메뉴 건너뛰기




Volumn 17, Issue 9, 2018, Pages 641-659

Gene therapy for neurological disorders: Progress and prospects

Author keywords

[No Author keywords available]

Indexed keywords

ADENO ASSOCIATED VIRUS VECTOR; CAPSID PROTEIN;

EID: 85053084107     PISSN: 14741776     EISSN: 14741784     Source Type: Journal    
DOI: 10.1038/nrd.2018.110     Document Type: Review
Times cited : (248)

References (249)
  • 1
    • 85032715202 scopus 로고    scopus 로고
    • Single-dose gene-replacement therapy for spinal muscular atrophy
    • This seminal clinical study demonstrates the safety and early efficacy of the first intravenously administered AAV-based therapy designed to correct the SMN deficiency in the CNS
    • Mendell, J. R. et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N. Engl. J. Med. 377, 1713–1722 (2017). This seminal clinical study demonstrates the safety and early efficacy of the first intravenously administered AAV-based therapy designed to correct the SMN deficiency in the CNS.
    • (2017) N. Engl. J. Med , vol.377 , pp. 1713-1722
    • Mendell, J.R.1
  • 2
    • 78751700314 scopus 로고    scopus 로고
    • Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice
    • Dominguez, E. et al. Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice. Hum. Mol. Genet. 20, 681–693 (2011).
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 681-693
    • Dominguez, E.1
  • 3
    • 77749249680 scopus 로고    scopus 로고
    • Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
    • Foust, K. D. et al. Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat. Biotechnol. 28, 271–274 (2010).
    • (2010) Nat. Biotechnol. , vol.28 , pp. 271-274
    • Foust, K.D.1
  • 4
    • 84911408927 scopus 로고    scopus 로고
    • Delayed disease onset and extended survival in the SOD1G93A rat model of amyotrophic lateral sclerosis after suppression of mutant SOD1 in the motor cortex
    • Thomsen, G. M. et al. Delayed disease onset and extended survival in the SOD1G93A rat model of amyotrophic lateral sclerosis after suppression of mutant SOD1 in the motor cortex. J. Neurosci. 34, 15587–15600 (2014).
    • (2014) J. Neurosci. , vol.34 , pp. 15587-15600
    • Thomsen, G.M.1
  • 5
    • 84955240380 scopus 로고    scopus 로고
    • Therapeutic rAAVrh10 mediated SOD1 silencing in adult SOD1(G93A) mice and nonhuman primates
    • Borel, F. et al. Therapeutic rAAVrh10 mediated SOD1 silencing in adult SOD1(G93A) mice and nonhuman primates. Hum. Gene Ther. 27, 19–31 (2016).
    • (2016) Hum. Gene Ther. , vol.27 , pp. 19-31
    • Borel, F.1
  • 6
    • 84890119907 scopus 로고    scopus 로고
    • Therapeutic AAV9-mediated suppression of mutant SOD1 slows disease progression and extends survival in models of inherited ALS
    • Foust, K. D. et al. Therapeutic AAV9-mediated suppression of mutant SOD1 slows disease progression and extends survival in models of inherited ALS. Mol. Ther. 21, 2148–2159 (2013).
    • (2013) Mol. Ther. , vol.21 , pp. 2148-2159
    • Foust, K.D.1
  • 7
    • 44449121785 scopus 로고    scopus 로고
    • Artificial miRNAs mitigate shRNA-mediated toxicity in the brain: Implications for the therapeutic development of RNAi
    • McBride, J. L. et al. Artificial miRNAs mitigate shRNA-mediated toxicity in the brain: implications for the therapeutic development of RNAi. Proc. Natl Acad. Sci. USA 105, 5868–5873 (2008).
    • (2008) Proc. Natl Acad. Sci. USA , vol.105 , pp. 5868-5873
    • McBride, J.L.1
  • 8
    • 84901195245 scopus 로고    scopus 로고
    • Silencing mutant huntingtin by adeno-associated virus-mediated RNA interference ameliorates disease manifestations in the YAC128 mouse model of Huntington’s disease
    • Stanek, L. M. et al. Silencing mutant huntingtin by adeno-associated virus-mediated RNA interference ameliorates disease manifestations in the YAC128 mouse model of Huntington’s disease. Hum. Gene Ther. 25, 461–474 (2014).
    • (2014) Hum. Gene Ther. , vol.25 , pp. 461-474
    • Stanek, L.M.1
  • 9
    • 67349100160 scopus 로고    scopus 로고
    • Nonallele-specific silencing of mutant and wild-type huntingtin demonstrates therapeutic efficacy in Huntington’s disease mice
    • Boudreau, R. L. et al. Nonallele-specific silencing of mutant and wild-type huntingtin demonstrates therapeutic efficacy in Huntington’s disease mice. Mol. Ther. 17, 1053–1063 (2009).
    • (2009) Mol. Ther. , vol.17 , pp. 1053-1063
    • Boudreau, R.L.1
  • 11
    • 84947975895 scopus 로고    scopus 로고
    • AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease
    • Katz, M. L. et al. AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease. Sci. Transl Med. 7, 313ra180 (2015).
    • (2015) Sci. Transl Med. , vol.7
    • Katz, M.L.1
  • 12
    • 84907276974 scopus 로고    scopus 로고
    • Comparative efficacy and safety of multiple routes of direct CNS administration of adeno-associated virus gene transfer vector serotype rh.10 expressing the human arylsulfatase A cDNA to nonhuman primates
    • Rosenberg, J. B. et al. Comparative efficacy and safety of multiple routes of direct CNS administration of adeno-associated virus gene transfer vector serotype rh.10 expressing the human arylsulfatase A cDNA to nonhuman primates. Hum. Gene Ther. Clin. Dev. 25, 164–177 (2014).
    • (2014) Hum. Gene Ther. Clin. Dev. , vol.25 , pp. 164-177
    • Rosenberg, J.B.1
  • 13
    • 79957882063 scopus 로고    scopus 로고
    • Correction of neurological disease of mucopolysaccharidosis IIIB in adult mice by rAAV9 trans-blood-brain barrier gene delivery
    • Fu, H., Dirosario, J., Killedar, S., Zaraspe, K. & McCarty, D. M. Correction of neurological disease of mucopolysaccharidosis IIIB in adult mice by rAAV9 trans-blood-brain barrier gene delivery. Mol. Ther. 19, 1025–1033 (2011).
    • (2011) Mol. Ther. , vol.19 , pp. 1025-1033
    • Fu, H.1    Dirosario, J.2    Killedar, S.3    Zaraspe, K.4    McCarty, D.M.5
  • 14
    • 85016650308 scopus 로고    scopus 로고
    • Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan
    • Weismann, C. M. et al. Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan. Hum. Mol. Genet. 24, 4353–4364 (2015).
    • (2015) Hum. Mol. Genet. , vol.24 , pp. 4353-4364
    • Weismann, C.M.1
  • 16
    • 84881228888 scopus 로고    scopus 로고
    • Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy
    • Haurigot, V. et al. Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy. J. Clin. Invest. 123, 3254–3271 (2013).
    • (2013) J. Clin. Invest. , vol.123 , pp. 3254-3271
    • Haurigot, V.1
  • 17
    • 84882718651 scopus 로고    scopus 로고
    • Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome
    • Garg, S. K. et al. Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome. J. Neurosci. 33, 13612–13620 (2013).
    • (2013) J. Neurosci. , vol.33 , pp. 13612-13620
    • Garg, S.K.1
  • 18
    • 84871919786 scopus 로고    scopus 로고
    • Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice
    • Gadalla, K. K. et al. Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice. Mol. Ther. 21, 18–30 (2013).
    • (2013) Mol. Ther , vol.21 , pp. 18-30
    • Gadalla, K.K.1
  • 19
    • 85020552794 scopus 로고    scopus 로고
    • Development of a novel AAV gene therapy cassette with improved safety features and efficacy in a mouse model of Rett syndrome
    • Gadalla, K. K. E. et al. Development of a novel AAV gene therapy cassette with improved safety features and efficacy in a mouse model of Rett syndrome. Mol. Ther. Methods Clin. Dev. 5, 180–190 (2017).
    • (2017) Mol. Ther. Methods Clin. Dev. , vol.5 , pp. 180-190
    • Gadalla, K.K.E.1
  • 20
    • 77955602597 scopus 로고    scopus 로고
    • Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy
    • Valori, C. F. et al. Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy. Sci. Transl Med. 2, 35-42 (2010).
    • (2010) Sci. Transl Med. , vol.2 , pp. 35-42
    • Valori, C.F.1
  • 21
    • 84977640297 scopus 로고    scopus 로고
    • An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models
    • Gerard, C. et al. An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models. Mol. Ther. Methods Clin. Dev. 1, 14044 (2014).
    • (2014) Mol. Ther. Methods Clin. Dev. , vol.1
    • Gerard, C.1
  • 22
    • 85006022210 scopus 로고    scopus 로고
    • Vectored intracerebral immunization with the anti-tau monoclonal antibody PHF1 markedly reduces tau pathology in mutant tau transgenic mice
    • Liu, W. et al. Vectored intracerebral immunization with the anti-tau monoclonal antibody PHF1 markedly reduces tau pathology in mutant tau transgenic mice. J. Neurosci. 36, 12425–12435 (2016).
    • (2016) J. Neurosci. , vol.36 , pp. 12425-12435
    • Liu, W.1
  • 23
    • 85021855424 scopus 로고    scopus 로고
    • AAV-mediated expression of anti-tau scFvs decreases tau accumulation in a mouse model of tauopathy
    • Ising, C. et al. AAV-mediated expression of anti-tau scFvs decreases tau accumulation in a mouse model of tauopathy. J. Exp. Med. 214, 1227–1238 (2017).
    • (2017) J. Exp. Med. , vol.214 , pp. 1227-1238
    • Ising, C.1
  • 24
    • 84926061715 scopus 로고    scopus 로고
    • In vivo interrogation of gene function in the mammalian brain using CRISPR-Cas9
    • Swiech, L. et al. In vivo interrogation of gene function in the mammalian brain using CRISPR-Cas9. Nat. Biotechnol. 33, 102–106 (2015).
    • (2015) Nat. Biotechnol. , vol.33 , pp. 102-106
    • Swiech, L.1
  • 25
    • 85000819280 scopus 로고    scopus 로고
    • In vivo genome editing via CRISPR/ Cas9 mediated homology-independent targeted integration
    • Suzuki, K. et al. In vivo genome editing via CRISPR/ Cas9 mediated homology-independent targeted integration. Nature 540, 144–149 (2016).
    • (2016) Nature , vol.540 , pp. 144-149
    • Suzuki, K.1
  • 26
    • 0034724209 scopus 로고    scopus 로고
    • Recombinant adeno-associated virus type 2, 4, and 5 vectors: Transduction of variant cell types and regions in the mammalian central nervous system
    • Davidson, B. L. et al. Recombinant adeno-associated virus type 2, 4, and 5 vectors: transduction of variant cell types and regions in the mammalian central nervous system. Proc. Natl Acad. Sci. USA 97, 3428–3432 (2000).
    • (2000) Proc. Natl Acad. Sci. USA , vol.97 , pp. 3428-3432
    • Davidson, B.L.1
  • 27
    • 37549061385 scopus 로고    scopus 로고
    • AAV8, 9, Rh10, Rh43 vector gene transfer in the rat brain: Effects of serotype, promoter and purification method
    • Klein, R. L., Dayton, R. D., Tatom, J. B., Henderson, K. M. & Henning, P. P. AAV8, 9, Rh10, Rh43 vector gene transfer in the rat brain: effects of serotype, promoter and purification method. Mol. Ther. 16, 89–96 (2008).
    • (2008) Mol. Ther. , vol.16 , pp. 89-96
    • Klein, R.L.1    Dayton, R.D.2    Tatom, J.B.3    Henderson, K.M.4    Henning, P.P.5
  • 28
    • 84855453499 scopus 로고    scopus 로고
    • Corticospinal tract transduction: A comparison of seven adeno-associated viral vector serotypes and a non-integrating lentiviral vector
    • Hutson, T. H., Verhaagen, J., Yáñez-Muñoz, R. J. & Moon, L. D. F. Corticospinal tract transduction: a comparison of seven adeno-associated viral vector serotypes and a non-integrating lentiviral vector. Gene Ther. 19, 49–60 (2012).
    • (2012) Gene Ther , vol.19 , pp. 49-60
    • Hutson, T.H.1    Verhaagen, J.2    Yáñez-Muñoz, R.J.3    Moon, L.D.F.4
  • 29
    • 0032550793 scopus 로고    scopus 로고
    • Selective and rapid uptake of adeno-associated virus type 2 in brain
    • Bartlett, J. S., Samulski, R. J. & McCown, T. J. Selective and rapid uptake of adeno-associated virus type 2 in brain. Hum. Gene Ther. 9, 1181–1186 (1998).
    • (1998) Hum. Gene Ther. , vol.9 , pp. 1181-1186
    • Bartlett, J.S.1    Samulski, R.J.2    McCown, T.J.3
  • 30
    • 4344566457 scopus 로고    scopus 로고
    • Recombinant AAV viral vectors pseudotyped with viral capsids from serotypes 1, 2, and 5 display differential efficiency and cell tropism after delivery to different regions of the central nervous system
    • Burger, C. et al. Recombinant AAV viral vectors pseudotyped with viral capsids from serotypes 1, 2, and 5 display differential efficiency and cell tropism after delivery to different regions of the central nervous system. Mol. Ther. 10, 302–317 (2004).
    • (2004) Mol. Ther. , vol.10 , pp. 302-317
    • Burger, C.1
  • 31
    • 32544458154 scopus 로고    scopus 로고
    • Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis
    • Passini, M. A. Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis. J. Neurosci. 26, 1334–1342 (2006).
    • (2006) J. Neurosci. , vol.26 , pp. 1334-1342
    • Passini, M.A.1
  • 32
    • 0038618702 scopus 로고    scopus 로고
    • Intraventricular brain injection of adeno-associated virus type 1 (AAV1) in neonatal mice results in complementary patterns of neuronal transduction to AAV2 and total long-term correction of storage lesions in the brains of β-glucuronidase-deficient mice
    • Passini, M. et al. Intraventricular brain injection of adeno-associated virus type 1 (AAV1) in neonatal mice results in complementary patterns of neuronal transduction to AAV2 and total long-term correction of storage lesions in the brains of β-glucuronidase-deficient mice. J. Virol. 77, 7034 (2003).
    • (2003) J. Virol. , vol.77 , pp. 7034
    • Passini, M.1
  • 33
    • 84864877570 scopus 로고    scopus 로고
    • Robust spinal motor neuron transduction following intrathecal delivery of AAV9 in pigs
    • Federici, T. et al. Robust spinal motor neuron transduction following intrathecal delivery of AAV9 in pigs. Gene Ther. 19, 852–859 (2012).
    • (2012) Gene Ther , vol.19 , pp. 852-859
    • Federici, T.1
  • 34
    • 54749126318 scopus 로고    scopus 로고
    • Expanded repertoire of AAV vector serotypes mediate unique patterns of transduction in mouse brain
    • Cearley, C. N. et al. Expanded repertoire of AAV vector serotypes mediate unique patterns of transduction in mouse brain. Mol. Ther. 16, 1710–1718 (2008).
    • (2008) Mol. Ther. , vol.16 , pp. 1710-1718
    • Cearley, C.N.1
  • 35
    • 26844444953 scopus 로고    scopus 로고
    • Adeno-associated virus type 4 (AAV4) targets ependyma and astrocytes in the subventricular zone and RMS
    • Liu, G., Martins, I. H., Chiorini, J. A. & Davidson, B. L. Adeno-associated virus type 4 (AAV4) targets ependyma and astrocytes in the subventricular zone and RMS. Gene Ther. 12, 1503–1508 (2005).
    • (2005) Gene Ther , vol.12 , pp. 1503-1508
    • Liu, G.1    Martins, I.H.2    Chiorini, J.A.3    Davidson, B.L.4
  • 36
    • 34247271439 scopus 로고    scopus 로고
    • Comparative analysis of adeno-associated viral vector serotypes 1, 2, 5, 7, and 8 in mouse brain
    • Taymans, J.-M. et al. Comparative analysis of adeno-associated viral vector serotypes 1, 2, 5, 7, and 8 in mouse brain. Hum. Gene Ther. 18, 195–206 (2007).
    • (2007) Hum. Gene Ther. , vol.18 , pp. 195-206
    • Taymans, J.-.M.1
  • 37
    • 84877847142 scopus 로고    scopus 로고
    • Strong cortical and spinal cord transduction after AAV7 and AAV9 delivery into the CSF of non-human primates
    • Samaranch, L. et al. Strong cortical and spinal cord transduction after AAV7 and AAV9 delivery into the CSF of non-human primates. Hum. Gene Ther. 24, 526–532 (2013).
    • (2013) Hum. Gene Ther. , vol.24 , pp. 526-532
    • Samaranch, L.1
  • 38
    • 0141996932 scopus 로고    scopus 로고
    • Adeno-associated virus vector-mediated transduction in the cat brain
    • Vite, C. H., Passini, M. A., Haskins, M. E. & Wolfe, J. H. Adeno-associated virus vector-mediated transduction in the cat brain. Gene Ther. 10, 1874–1881 (2003).
    • (2003) Gene Ther , vol.10 , pp. 1874-1881
    • Vite, C.H.1    Passini, M.A.2    Haskins, M.E.3    Wolfe, J.H.4
  • 39
    • 79958780875 scopus 로고    scopus 로고
    • T2 imaging in monitoring of intraparenchymal real-time convection-enhanced delivery
    • discussion 163
    • Richardson, R. M. et al. T2 imaging in monitoring of intraparenchymal real-time convection-enhanced delivery. Neurosurgery 69, 154–163; discussion 163 (2011).
    • (2011) Neurosurgery , vol.69 , pp. 154-163
    • Richardson, R.M.1
  • 40
    • 84904412918 scopus 로고    scopus 로고
    • Translational fidelity of intrathecal delivery of self-complementary AAV9-survival motor neuron 1 for spinal muscular atrophy
    • Passini, M. A. et al. Translational fidelity of intrathecal delivery of self-complementary AAV9-survival motor neuron 1 for spinal muscular atrophy. Hum. Gene Ther. 25, 619–630 (2014).
    • (2014) Hum. Gene Ther. , vol.25 , pp. 619-630
    • Passini, M.A.1
  • 41
    • 85015239684 scopus 로고    scopus 로고
    • Potent spinal parenchymal AAV9-mediated gene delivery by subpial injection in adult rats and pigs
    • Miyanohara, A. et al. Potent spinal parenchymal AAV9-mediated gene delivery by subpial injection in adult rats and pigs. Mol. Ther. Methods Clin. Dev. 3, 16046 (2016).
    • (2016) Mol. Ther. Methods Clin. Dev. , vol.3 , pp. 16046
    • Miyanohara, A.1
  • 42
    • 85053082992 scopus 로고    scopus 로고
    • Adeno-associated viral gene therapy using PHP.B:NPC1 ameliorates disease phenotype in mouse model of Niemann-Pick C1 disease
    • Gibson, L. A. et al. Adeno-associated viral gene therapy using PHP.B:NPC1 ameliorates disease phenotype in mouse model of Niemann-Pick C1 disease. Mol. Ther. 25, 1–363 (2017).
    • (2017) Mol. Ther. , vol.25 , pp. 1-363
    • Gibson, L.A.1
  • 43
    • 85028735261 scopus 로고    scopus 로고
    • AAV-PHP.B-mediated global-scale expression in the mouse nervous system enables GBA1 gene therapy for wide protection from synucleinopathy
    • Morabito, G. et al. AAV-PHP.B-mediated global-scale expression in the mouse nervous system enables GBA1 gene therapy for wide protection from synucleinopathy. Mol. Ther. 25, 2727–2742 (2017).
    • (2017) Mol. Ther. , vol.25 , pp. 2727-2742
    • Morabito, G.1
  • 44
    • 84855466746 scopus 로고    scopus 로고
    • Antibody-based protection against HIV infection by vectored immunoprophylaxis
    • Balazs, A. B. et al. Antibody-based protection against HIV infection by vectored immunoprophylaxis. Nature 481, 81–84 (2011).
    • (2011) Nature , vol.481 , pp. 81-84
    • Balazs, A.B.1
  • 45
    • 84880296945 scopus 로고    scopus 로고
    • Broad protection against influenza infection by vectored immunoprophylaxis in mice
    • Balazs, A. B., Bloom, J. D., Hong, C. M., Rao, D. S. & Baltimore, D. Broad protection against influenza infection by vectored immunoprophylaxis in mice. Nat. Biotechnol. 31, 647–652 (2013).
    • (2013) Nat. Biotechnol. , vol.31 , pp. 647-652
    • Balazs, A.B.1    Bloom, J.D.2    Hong, C.M.3    Rao, D.S.4    Baltimore, D.5
  • 46
    • 84957588611 scopus 로고    scopus 로고
    • Cre-dependent selection yields AAV variants for widespread gene transfer to the adult brain
    • A novel, cell-type-specific, functional in vivo selection system enables the identification of several engineered AAV capsids that provide up to 40-fold greater CNS transduction than the previous standard, AAV9, after IV administration in adult mice
    • Deverman, B. E. et al. Cre-dependent selection yields AAV variants for widespread gene transfer to the adult brain. Nat. Biotechnol. 34, 204–209 (2016). A novel, cell-type-specific, functional in vivo selection system enables the identification of several engineered AAV capsids that provide up to 40-fold greater CNS transduction than the previous standard, AAV9, after IV administration in adult mice.
    • (2016) Nat. Biotechnol , vol.34 , pp. 204-209
    • Deverman, B.E.1
  • 47
    • 85053082453 scopus 로고    scopus 로고
    • Intraputaminal AADC gene therapy for advanced Parkinson’s disease: Interim results of a phase 1b Trial [abstract]
    • Ravina, B. et al. Intraputaminal AADC gene therapy for advanced Parkinson’s disease: interim results of a phase 1b Trial [abstract]. Hum. Gene Ther. 28, OR12 (2017).
    • (2017) Hum. Gene Ther , vol.28
    • Ravina, B.1
  • 48
    • 84861139370 scopus 로고    scopus 로고
    • Gene therapy for aromatic L-amino acid decarboxylase deficiency
    • Hwu, W. L. et al. Gene therapy for aromatic L-amino acid decarboxylase deficiency. Sci. Transl Med. 4, 134ra61 (2012).
    • (2012) Sci. Transl Med. , vol.4
    • Hwu, W.L.1
  • 49
    • 84860130544 scopus 로고    scopus 로고
    • Long-term evaluation of a phase 1 study of AADC gene therapy for Parkinson’s disease
    • Mittermeyer, G. et al. Long-term evaluation of a phase 1 study of AADC gene therapy for Parkinson’s disease. Hum. Gene Ther. 23, 377–381 (2012).
    • (2012) Hum. Gene Ther. , vol.23 , pp. 377-381
    • Mittermeyer, G.1
  • 50
    • 85020759486 scopus 로고    scopus 로고
    • Persistent expression of dopamine-synthesizing enzymes 15 years after gene transfer in a primate model of Parkinson’s disease
    • Sehara, Y. et al. Persistent expression of dopamine-synthesizing enzymes 15 years after gene transfer in a primate model of Parkinson’s disease. Hum. Gene Ther. Clin. Dev. 28, 74–79 (2017).
    • (2017) Hum. Gene Ther. Clin. Dev. , vol.28 , pp. 74-79
    • Sehara, Y.1
  • 51
    • 84959530609 scopus 로고    scopus 로고
    • Production of recombinant adeno-associated virus vectors using suspension HEK293 cells and continuous harvest of vector from the culture media for GMP FIX and FLT1 clinical vector
    • Grieger, J. C., Soltys, S. M. & Samulski, R. J. Production of recombinant adeno-associated virus vectors using suspension HEK293 cells and continuous harvest of vector from the culture media for GMP FIX and FLT1 clinical vector. Mol. Ther. 24, 287–297 (2016).
    • (2016) Mol. Ther. , vol.24 , pp. 287-297
    • Grieger, J.C.1    Soltys, S.M.2    Samulski, R.J.3
  • 52
    • 85018473420 scopus 로고    scopus 로고
    • Manufacturing clinical grade recombinant adeno-associated virus using invertebrate cell lines
    • Kotin, R. M. & Snyder, R. O. Manufacturing clinical grade recombinant adeno-associated virus using invertebrate cell lines. Hum. Gene Ther. 28, 350–360 (2017).
    • (2017) Hum. Gene Ther. , vol.28 , pp. 350-360
    • Kotin, R.M.1    Snyder, R.O.2
  • 53
    • 70449427834 scopus 로고    scopus 로고
    • Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy
    • Cartier, N. et al. Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science 326, 818–823 (2009).
    • (2009) Science , vol.326 , pp. 818-823
    • Cartier, N.1
  • 54
    • 84857579405 scopus 로고    scopus 로고
    • Lentiviral hematopoietic cell gene therapy for X-linked adrenoleukodystrophy
    • Cartier, N. et al. Lentiviral hematopoietic cell gene therapy for X-linked adrenoleukodystrophy. Methods Enzymol. 507, 187–198 (2012).
    • (2012) Methods Enzymol , vol.507 , pp. 187-198
    • Cartier, N.1
  • 55
    • 61649095399 scopus 로고    scopus 로고
    • High-efficiency transduction of the mouse retina by tyrosine-mutant AAV serotype vectors
    • Petrs-Silva, H. et al. High-efficiency transduction of the mouse retina by tyrosine-mutant AAV serotype vectors. Mol. Ther. 17, 463–471 (2009).
    • (2009) Mol. Ther. , vol.17 , pp. 463-471
    • Petrs-Silva, H.1
  • 56
    • 84894242894 scopus 로고    scopus 로고
    • Selection and evaluation of clinically relevant AAV variants in a xenograft liver model
    • Lisowski, L. et al. Selection and evaluation of clinically relevant AAV variants in a xenograft liver model. Nature 506, 382–386 (2014).
    • (2014) Nature , vol.506 , pp. 382-386
    • Lisowski, L.1
  • 57
    • 0001592496 scopus 로고
    • Adenovirus-associated defective virus particles
    • The first identification of small viruses now known as AAVs as contaminants of adenovirus preparations
    • Atchison, R. W., Casto, B. C. & Hammon, W. M. Adenovirus-associated defective virus particles. Science 149, 754–756 (1965). The first identification of small viruses now known as AAVs as contaminants of adenovirus preparations.
    • (1965) Science , vol.149 , pp. 754-756
    • Atchison, R.W.1    Casto, B.C.2    Hammon, W.M.3
  • 58
    • 0013914098 scopus 로고
    • Studies of small DNA viruses found in various adenovirus preparations: Physical, biological, and immunological characteristics
    • Hoggan, M. D., Blacklow, N. R. & Rowe, W. P. Studies of small DNA viruses found in various adenovirus preparations: physical, biological, and immunological characteristics. Proc. Natl Acad. Sci. USA 55, 1467–1474 (1966).
    • (1966) Proc. Natl Acad. Sci. USA , vol.55 , pp. 1467-1474
    • Hoggan, M.D.1    Blacklow, N.R.2    Rowe, W.P.3
  • 59
    • 0014140741 scopus 로고
    • Physicochemical characterization of adeno-associated satellite virus type 4 and its nucleic acid
    • Parks, W. P., Green, M., Pina, M. & Melnick, J. L. Physicochemical characterization of adeno-associated satellite virus type 4 and its nucleic acid. J. Virol. 1, 980–987 (1967).
    • (1967) J. Virol. , vol.1 , pp. 980-987
    • Parks, W.P.1    Green, M.2    Pina, M.3    Melnick, J.L.4
  • 60
    • 0030841312 scopus 로고    scopus 로고
    • Cloning of adeno-associated virus type 4 (AAV4) and generation of recombinant AAV4 particles
    • Chiorini, J. A., Yang, L., Liu, Y., Safer, B. & Kotin, R. M. Cloning of adeno-associated virus type 4 (AAV4) and generation of recombinant AAV4 particles. J. Virol. 71, 6823–6833 (1997).
    • (1997) J. Virol. , vol.71 , pp. 6823-6833
    • Chiorini, J.A.1    Yang, L.2    Liu, Y.3    Safer, B.4    Kotin, R.M.5
  • 61
    • 0033885967 scopus 로고    scopus 로고
    • Adeno-associated virus (AAV)-3-based vectors transduce haematopoietic cells not susceptible to transduction with AAV-2-based vectors
    • Handa, A., Muramatsu, S., Qiu, J., Mizukami, H. & Brown, K. E. Adeno-associated virus (AAV)-3-based vectors transduce haematopoietic cells not susceptible to transduction with AAV-2-based vectors. J. Gen. Virol. 81, 2077–2084 (2000).
    • (2000) J. Gen. Virol. , vol.81 , pp. 2077-2084
    • Handa, A.1    Muramatsu, S.2    Qiu, J.3    Mizukami, H.4    Brown, K.E.5
  • 62
    • 2642512201 scopus 로고    scopus 로고
    • Clades of adeno-associated viruses are widely disseminated in human tissues
    • Gao, G. et al. Clades of adeno-associated viruses are widely disseminated in human tissues. J. Virol. 78, 6381–6388 (2004).
    • (2004) J. Virol. , vol.78 , pp. 6381-6388
    • Gao, G.1
  • 63
    • 0037947557 scopus 로고    scopus 로고
    • Adeno-associated viruses undergo substantial evolution in primates during natural infections
    • Gao, G. et al. Adeno-associated viruses undergo substantial evolution in primates during natural infections. Proc. Natl Acad. Sci. USA 100, 6081–6086 (2003).
    • (2003) Proc. Natl Acad. Sci. USA , vol.100 , pp. 6081-6086
    • Gao, G.1
  • 64
    • 28444491760 scopus 로고    scopus 로고
    • Identification of mouse AAV capsid-specific CD8+ T cell epitopes
    • Sabatino, D. E. et al. Identification of mouse AAV capsid-specific CD8+ T cell epitopes. Mol. Ther. 12, 1023–1033 (2005).
    • (2005) Mol. Ther. , vol.12 , pp. 1023-1033
    • Sabatino, D.E.1
  • 65
    • 29744466489 scopus 로고    scopus 로고
    • Novel caprine adeno-associated virus (AAV) capsid (AAV-Go.1) is closely related to the primate AAV-5 and has unique tropism and neutralization properties
    • Arbetman, A. E. et al. Novel caprine adeno-associated virus (AAV) capsid (AAV-Go.1) is closely related to the primate AAV-5 and has unique tropism and neutralization properties. J. Virol. 79, 15238–15245 (2005).
    • (2005) J. Virol. , vol.79 , pp. 15238-15245
    • Arbetman, A.E.1
  • 66
    • 77649271981 scopus 로고    scopus 로고
    • Comparative transduction efficiency of AAV vector serotypes 1–6 in the substantia nigra and striatum of the primate brain
    • Markakis, E. A. et al. Comparative transduction efficiency of AAV vector serotypes 1–6 in the substantia nigra and striatum of the primate brain. Mol. Ther. 18, 588–593 (2010).
    • (2010) Mol. Ther. , vol.18 , pp. 588-593
    • Markakis, E.A.1
  • 67
    • 80455173951 scopus 로고    scopus 로고
    • Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders
    • Bevan, A. K. et al. Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders. Mol. Ther. 19, 1971–1980 (2011).
    • (2011) Mol. Ther. , vol.19 , pp. 1971-1980
    • Bevan, A.K.1
  • 68
    • 84875925195 scopus 로고    scopus 로고
    • Global CNS gene delivery and evasion of anti-AAV-neutralizing antibodies by intrathecal AAV administration in non-human primates
    • Gray, S. J., Nagabhushan Kalburgi, S., McCown, T. J. & Jude Samulski, R. Global CNS gene delivery and evasion of anti-AAV-neutralizing antibodies by intrathecal AAV administration in non-human primates. Gene Ther. 20, 450–459 (2013).
    • (2013) Gene Ther , vol.20 , pp. 450-459
    • Gray, S.J.1    Nagabhushan Kalburgi, S.2    McCown, T.J.3    Jude Samulski, R.4
  • 69
    • 84860171925 scopus 로고    scopus 로고
    • Adeno-associated virus serotype 9 transduction in the central nervous system of nonhuman primates
    • Samaranch, L. et al. Adeno-associated virus serotype 9 transduction in the central nervous system of nonhuman primates. Hum. Gene Ther. 23, 382–389 (2012).
    • (2012) Hum. Gene Ther. , vol.23 , pp. 382-389
    • Samaranch, L.1
  • 70
    • 85040593458 scopus 로고    scopus 로고
    • Evaluation of intrathecal routes of administration for adeno-associated viral vectors in large animals
    • Hinderer, C. et al. Evaluation of intrathecal routes of administration for adeno-associated viral vectors in large animals. Hum. Gene Ther. 29, 15–24 (2018).
    • (2018) Hum. Gene Ther. , vol.29 , pp. 15-24
    • Hinderer, C.1
  • 71
    • 85015626885 scopus 로고    scopus 로고
    • Widespread gene transfer in the central nervous system of cynomolgus macaques following delivery of AAV9 into the cisterna magna
    • Hinderer, C. et al. Widespread gene transfer in the central nervous system of cynomolgus macaques following delivery of AAV9 into the cisterna magna. Mol. Ther. Methods Clin. Dev. 1, 14051 (2014).
    • (2014) Mol. Ther. Methods Clin. Dev. , vol.1
    • Hinderer, C.1
  • 72
    • 60149106907 scopus 로고    scopus 로고
    • Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes
    • Foust, K. D. et al. Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes. Nat. Biotechnol. 27, 59–65 (2009).
    • (2009) Nat. Biotechnol , vol.27 , pp. 59-65
    • Foust, K.D.1
  • 73
    • 67649861393 scopus 로고    scopus 로고
    • Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons
    • This report is one of two studies to first demonstrate that AAV vectors can cross the BBB and provide widespread gene expression throughout the neonatal and adult CNS; this study includes the cat
    • Duque, S. et al. Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons. Mol. Ther. 17, 1187–1196 (2009). This report is one of two studies to first demonstrate that AAV vectors can cross the BBB and provide widespread gene expression throughout the neonatal and adult CNS; this study includes the cat.
    • (2009) Mol. Ther. , vol.17 , pp. 1187-1196
    • Duque, S.1
  • 74
    • 78650903887 scopus 로고    scopus 로고
    • Expansive gene transfer in the rat CNS rapidly produces amyotrophic lateral sclerosis relevant sequelae when TDP-43 is overexpressed
    • Wang, D. B. et al. Expansive gene transfer in the rat CNS rapidly produces amyotrophic lateral sclerosis relevant sequelae when TDP-43 is overexpressed. Mol. Ther. 18, 2064–2074 (2010).
    • (2010) Mol. Ther. , vol.18 , pp. 2064-2074
    • Wang, D.B.1
  • 75
    • 79957888016 scopus 로고    scopus 로고
    • Preclinical differences of intravascular AAV9 delivery to neurons and glia: A comparative study of adult mice and nonhuman primates
    • This study highlights the species-specific tropism differences between mouse and NHPs that may complicate translational efforts of engineered AAV capsids
    • Gray, S. J. et al. Preclinical differences of intravascular AAV9 delivery to neurons and glia: a comparative study of adult mice and nonhuman primates. Mol. Ther. 19, 1058–1069 (2011). This study highlights the species-specific tropism differences between mouse and NHPs that may complicate translational efforts of engineered AAV capsids.
    • (2011) Mol. Ther. , vol.19 , pp. 1058-1069
    • Gray, S.J.1
  • 76
    • 84860171925 scopus 로고    scopus 로고
    • AAV9 transduction in the central nervous system of non-human primates
    • Samaranch, L. et al. AAV9 transduction in the central nervous system of non-human primates. Hum. Gene Ther. 23, 382–389 (2012).
    • (2012) Hum. Gene Ther. , vol.23 , pp. 382-389
    • Samaranch, L.1
  • 78
    • 80052506951 scopus 로고    scopus 로고
    • Local and retrograde gene transfer into primate neuronal pathways via adeno-associated virus serotype 8 and 9
    • Masamizu, Y. et al. Local and retrograde gene transfer into primate neuronal pathways via adeno-associated virus serotype 8 and 9. Neuroscience 193, 249–258 (2011).
    • (2011) Neuroscience , vol.193 , pp. 249-258
    • Masamizu, Y.1
  • 79
    • 84971439443 scopus 로고    scopus 로고
    • Characterization of the adeno-associated virus 1 and 6 sialic acid binding site
    • Huang, L. Y. et al. Characterization of the adeno-associated virus 1 and 6 sialic acid binding site. J. Virol. 90, 5219–5230 (2016).
    • (2016) J. Virol. , vol.90 , pp. 5219-5230
    • Huang, L.Y.1
  • 80
    • 0141454787 scopus 로고    scopus 로고
    • Identification of a heparin-binding motif on adeno-associated virus type 2 capsids
    • Kern, A. et al. Identification of a heparin-binding motif on adeno-associated virus type 2 capsids. J. Virol. 77, 11072–11081 (2003).
    • (2003) J. Virol. , vol.77 , pp. 11072-11081
    • Kern, A.1
  • 81
    • 0038618725 scopus 로고    scopus 로고
    • Identification of amino acid residues in the capsid proteins of adeno-associated virus type 2 that contribute to heparan sulfate proteoglycan binding
    • Opie, S. R. et al. Identification of amino acid residues in the capsid proteins of adeno-associated virus type 2 that contribute to heparan sulfate proteoglycan binding. J. Virol. 77, 6995–7006 (2003).
    • (2003) J. Virol. , vol.77 , pp. 6995-7006
    • Opie, S.R.1
  • 82
    • 33750722840 scopus 로고    scopus 로고
    • Single amino acid changes can influence titer, heparin binding, and tissue tropism in different adeno-associated virus serotypes
    • Wu, Z. et al. Single amino acid changes can influence titer, heparin binding, and tissue tropism in different adeno-associated virus serotypes. J. Virol. 80, 11393–11397 (2006).
    • (2006) J. Virol. , vol.80 , pp. 11393-11397
    • Wu, Z.1
  • 83
    • 79953857433 scopus 로고    scopus 로고
    • Terminal N-linked galactose is the primary receptor for adeno-associated virus 9
    • Shen, S., Bryant, K. D., Brown, S. M., Randell, S. H. & Asokan, A. Terminal N-linked galactose is the primary receptor for adeno-associated virus 9. J. Biol. Chem. 286, 13532–13540 (2011).
    • (2011) J. Biol. Chem. , vol.286 , pp. 13532-13540
    • Shen, S.1    Bryant, K.D.2    Brown, S.M.3    Randell, S.H.4    Asokan, A.5
  • 85
    • 84924777939 scopus 로고    scopus 로고
    • Unique glycan signatures regulate adeno-associated virus tropism in the developing brain
    • Murlidharan, G., Corriher, T., Ghashghaei, H. T. & Asokan, A. Unique glycan signatures regulate adeno-associated virus tropism in the developing brain. J. Virol. 89, 3976–3987 (2015).
    • (2015) J. Virol. , vol.89 , pp. 3976-3987
    • Murlidharan, G.1    Corriher, T.2    Ghashghaei, H.T.3    Asokan, A.4
  • 86
    • 84904908113 scopus 로고    scopus 로고
    • Drawing a high-resolution functional map of adeno-associated virus capsid by massively parallel sequencing
    • this tour de force study, the authors use alanine-scanning mutagenesis and AAV genome barcoding to map onto the linear AAV capsid sequence key functional features, including glycan binding, circulating half-life and liver and other organ transduction
    • Adachi, K., Enoki, T., Kawano, Y., Veraz, M. & Nakai, H. Drawing a high-resolution functional map of adeno-associated virus capsid by massively parallel sequencing. Nat. Commun. 5, 3075 (2014). In this tour de force study, the authors use alanine-scanning mutagenesis and AAV genome barcoding to map onto the linear AAV capsid sequence key functional features, including glycan binding, circulating half-life and liver and other organ transduction.
    • (2014) Nat. Commun. , vol.5 , pp. 3075
    • Adachi, K.1    Enoki, T.2    Kawano, Y.3    Veraz, M.4    Nakai, H.5
  • 87
    • 85034980347 scopus 로고    scopus 로고
    • Mapping the structural determinants required for AAVrh.10 transport across the blood-brain barrier
    • Albright, B. H. et al. Mapping the structural determinants required for AAVrh.10 transport across the blood-brain barrier. Mol. Ther. 26, 510–523 (2018).
    • (2018) Mol. Ther. , vol.26 , pp. 510-523
    • Albright, B.H.1
  • 88
    • 44949131860 scopus 로고    scopus 로고
    • In vitro and in vivo gene therapy vector evolution via multispecies interbreeding and retargeting of adeno-associated viruses
    • Grimm, D. et al. In vitro and in vivo gene therapy vector evolution via multispecies interbreeding and retargeting of adeno-associated viruses. J. Virol. 82, 5887–5911 (2008).
    • (2008) J. Virol. , vol.82 , pp. 5887-5911
    • Grimm, D.1
  • 89
    • 45749099260 scopus 로고    scopus 로고
    • Engineering and selection of shuffled AAV genomes: A new strategy for producing targeted biological nanoparticles
    • Li, W. et al. Engineering and selection of shuffled AAV genomes: a new strategy for producing targeted biological nanoparticles. Mol. Ther. 16, 1252–1260 (2008).
    • (2008) Mol. Ther. , vol.16 , pp. 1252-1260
    • Li, W.1
  • 90
    • 32844470411 scopus 로고    scopus 로고
    • Combinatorial engineering of a gene therapy vector: Directed evolution of adeno-associated virus
    • Perabo, L. et al. Combinatorial engineering of a gene therapy vector: directed evolution of adeno-associated virus. J. Gene Med. 8, 155–162 (2006).
    • (2006) J. Gene Med. , vol.8 , pp. 155-162
    • Perabo, L.1
  • 91
    • 62649174755 scopus 로고    scopus 로고
    • Directed evolution of adeno-associated virus to an infectious respiratory virus
    • Excoffon, K. J. D. A. et al. Directed evolution of adeno-associated virus to an infectious respiratory virus. Proc. Natl Acad. Sci. USA 106, 3865–3870 (2009).
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , pp. 3865-3870
    • Excoffon, K.J.D.A.1
  • 92
    • 32344438754 scopus 로고    scopus 로고
    • Directed evolution of adeno-associated virus yields enhanced gene delivery vectors
    • Maheshri, N., Koerber, J. T., Kaspar, B. K. & Schaffer, D. V. Directed evolution of adeno-associated virus yields enhanced gene delivery vectors. Nat. Biotechnol. 24, 198–204 (2006).
    • (2006) Nat. Biotechnol. , vol.24 , pp. 198-204
    • Maheshri, N.1    Koerber, J.T.2    Kaspar, B.K.3    Schaffer, D.V.4
  • 93
    • 0042360384 scopus 로고    scopus 로고
    • Random peptide libraries displayed on adeno-associated virus to select for targeted gene therapy vectors
    • Muller, O. J. et al. Random peptide libraries displayed on adeno-associated virus to select for targeted gene therapy vectors. Nat. Biotechnol. 21, 1040–1046 (2003).
    • (2003) Nat. Biotechnol. , vol.21 , pp. 1040-1046
    • Muller, O.J.1
  • 94
    • 84992036288 scopus 로고    scopus 로고
    • A designer AAV variant permits efficient retrograde access to projection neurons
    • Tervo, D. G. et al. A designer AAV variant permits efficient retrograde access to projection neurons. Neuron 92, 372–382 (2016).
    • (2016) Neuron , vol.92 , pp. 372-382
    • Tervo, D.G.1
  • 95
    • 84880540708 scopus 로고    scopus 로고
    • In vivo-directed evolution of a new adeno-associated virus for therapeutic outer retinal gene delivery from the vitreous
    • Dalkara, D. et al. In vivo-directed evolution of a new adeno-associated virus for therapeutic outer retinal gene delivery from the vitreous. Sci. Transl Med. 5, 189ra76 (2013).
    • (2013) Sci. Transl Med. , vol.5
    • Dalkara, D.1
  • 96
    • 84971449594 scopus 로고    scopus 로고
    • A brain microvasculature endothelial cell-specific viral vector with the potential to treat neurovascular and neurological diseases
    • Korbelin, J. et al. A brain microvasculature endothelial cell-specific viral vector with the potential to treat neurovascular and neurological diseases. EMBO Mol. Med. 8, 609–625 (2016).
    • (2016) EMBO Mol. Med. , vol.8 , pp. 609-625
    • Korbelin, J.1
  • 97
    • 34548743469 scopus 로고    scopus 로고
    • Construction of diverse adeno-associated viral libraries for directed evolution of enhanced gene delivery vehicles
    • Koerber, J. T., Maheshri, N., Kaspar, B. K. & Schaffer, D. V. Construction of diverse adeno-associated viral libraries for directed evolution of enhanced gene delivery vehicles. Nat. Protoc. 1, 701–706 (2006).
    • (2006) Nat. Protoc. , vol.1 , pp. 701-706
    • Koerber, J.T.1    Maheshri, N.2    Kaspar, B.K.3    Schaffer, D.V.4
  • 98
    • 79957890386 scopus 로고    scopus 로고
    • Engineering liver-detargeted AAV9 vectors for cardiac and musculoskeletal gene transfer
    • Pulicherla, N. et al. Engineering liver-detargeted AAV9 vectors for cardiac and musculoskeletal gene transfer. Mol. Ther. 19, 1070–1078 (2011).
    • (2011) Mol. Ther. , vol.19 , pp. 1070-1078
    • Pulicherla, N.1
  • 99
    • 85030643673 scopus 로고    scopus 로고
    • In vivo selection of a computationally designed SCHEMA AAV library yields a novel variant for infection of adult neural stem cells in the SVZ
    • Ojala, D. S. et al. In vivo selection of a computationally designed SCHEMA AAV library yields a novel variant for infection of adult neural stem cells in the SVZ. Mol. Ther. 26, 304–319 (2018).
    • (2018) Mol. Ther. , vol.26 , pp. 304-319
    • Ojala, D.S.1
  • 100
    • 85026400671 scopus 로고    scopus 로고
    • Engineered AAVs for efficient noninvasive gene delivery to the central and peripheral nervous systems
    • Chan, K. Y. et al. Engineered AAVs for efficient noninvasive gene delivery to the central and peripheral nervous systems. Nat. Neurosci. 20, 1172–1179 (2017).
    • (2017) Nat. Neurosci. , vol.20 , pp. 1172-1179
    • Chan, K.Y.1
  • 101
    • 85045025267 scopus 로고    scopus 로고
    • Therapeutic delivery of butyrylcholinesterase by brain-wide viral gene transfer to mice
    • Gao, Y., Geng, L., Chen, V. P. & Brimijoin, S. Therapeutic delivery of butyrylcholinesterase by brain-wide viral gene transfer to mice. Molecules 22, E1145 (2017).
    • (2017) Molecules , vol.22
    • Gao, Y.1    Geng, L.2    Chen, V.P.3    Brimijoin, S.4
  • 102
    • 85020069938 scopus 로고    scopus 로고
    • Global representations of goal-directed behavior in distinct cell types of mouse neocortex
    • Allen, W. E. et al. Global representations of goal-directed behavior in distinct cell types of mouse neocortex. Neuron 94, 891–907.e6 (2017).
    • (2017) Neuron 94 , pp. 891-907
    • Allen, W.E.1
  • 103
    • 84995699340 scopus 로고    scopus 로고
    • Better targeting, better efficiency for wide-scale neuronal transduction with the synapsin promoter and AAV-PHP.B
    • Jackson, K. L., Dayton, R. D., Deverman, B. E. & Klein, R. L. Better targeting, better efficiency for wide-scale neuronal transduction with the synapsin promoter and AAV-PHP.B. Front. Mol. Neurosci. 9, 116 (2016).
    • (2016) Front. Mol. Neurosci. , vol.9 , pp. 116
    • Jackson, K.L.1    Dayton, R.D.2    Deverman, B.E.3    Klein, R.L.4
  • 104
    • 85037644792 scopus 로고    scopus 로고
    • Intravenous administration of the adeno-associated virus-PHP.B capsid fails to upregulate transduction efficiency in the marmoset brain
    • Matsuzaki, Y. et al. Intravenous administration of the adeno-associated virus-PHP.B capsid fails to upregulate transduction efficiency in the marmoset brain. Neurosci. Lett. 665, 182–188 (2018).
    • (2018) Neurosci. Lett. , vol.665 , pp. 182-188
    • Matsuzaki, Y.1
  • 105
    • 85043250423 scopus 로고    scopus 로고
    • The neurotropic properties of AAV-PHP.B are limited to C57BL/6J mice
    • Hordeaux, J. et al. The neurotropic properties of AAV-PHP.B are limited to C57BL/6J mice. Mol. Ther. 26, 664–668 (2018).
    • (2018) Mol. Ther. , vol.26 , pp. 664-668
    • Hordeaux, J.1
  • 106
    • 84893307092 scopus 로고    scopus 로고
    • AAV9-mediated expression of a non-self protein in nonhuman primate central nervous system triggers widespread neuroinflammation driven by antigen-presenting cell transduction
    • This study highlights the risk of expressing the GFP transgene in the CNS with inflammation and immune responses as well as ataxia after direct CNS delivery in NHPs
    • Samaranch, L. et al. AAV9-mediated expression of a non-self protein in nonhuman primate central nervous system triggers widespread neuroinflammation driven by antigen-presenting cell transduction. Mol. Ther. 22, 329–337 (2014). This study highlights the risk of expressing the GFP transgene in the CNS with inflammation and immune responses as well as ataxia after direct CNS delivery in NHPs.
    • (2014) Mol. Ther. , vol.22 , pp. 329-337
    • Samaranch, L.1
  • 107
    • 85053074467 scopus 로고    scopus 로고
    • Translation of intravenous delivery of AAV gene therapy for the treatment of CNS diseases [abstract]
    • Sah, D. et al. Translation of intravenous delivery of AAV gene therapy for the treatment of CNS diseases [abstract]. Hum. Gene Ther. 28, P209 (2017).
    • (2017) Hum. Gene Ther , vol.28
    • Sah, D.1
  • 108
    • 85053082323 scopus 로고    scopus 로고
    • Safety and increased transduction efficiency in the adult nonhuman primate central nervous system with intravenous delivery of two novel adeno-associated virus capsids
    • abstract 661
    • Sah, D. et al. Safety and increased transduction efficiency in the adult nonhuman primate central nervous system with intravenous delivery of two novel adeno-associated virus capsids [abstract 661]. Mol. Ther. (2018).
    • (2018) Mol. Ther.
    • Sah, D.1
  • 109
    • 0029923638 scopus 로고    scopus 로고
    • Second-strand synthesis is a rate-limiting step for efficient transduction by recombinant adeno-associated virus vectors
    • Ferrari, F. K., Samulski, T., Shenk, T. & Samulski, R. J. Second-strand synthesis is a rate-limiting step for efficient transduction by recombinant adeno-associated virus vectors. J. Virol. 70, 3227–3234 (1996).
    • (1996) J. Virol. , vol.70 , pp. 3227-3234
    • Ferrari, F.K.1    Samulski, T.2    Shenk, T.3    Samulski, R.J.4
  • 110
    • 84863466713 scopus 로고    scopus 로고
    • Sialic acid deposition impairs the utility of AAV9, but not peptide-modified AAVs for brain gene therapy in a mouse model of lysosomal storage disease
    • Chen, Y. H., Claflin, K., Geoghegan, J. C. & Davidson, B. L. Sialic acid deposition impairs the utility of AAV9, but not peptide-modified AAVs for brain gene therapy in a mouse model of lysosomal storage disease. Mol. Ther. 20, 1393–1399 (2012).
    • (2012) Mol. Ther. , vol.20 , pp. 1393-1399
    • Chen, Y.H.1    Claflin, K.2    Geoghegan, J.C.3    Davidson, B.L.4
  • 111
    • 70349850388 scopus 로고    scopus 로고
    • Efficient gene delivery and selective transduction of glial cells in the mammalian brain by AAV serotypes isolated from nonhuman primates
    • Lawlor, P. A., Bland, R. J., Mouravlev, A., Young, D. & During, M. J. Efficient gene delivery and selective transduction of glial cells in the mammalian brain by AAV serotypes isolated from nonhuman primates. Mol. Ther. 17, 1692–1702 (2009).
    • (2009) Mol. Ther. , vol.17 , pp. 1692-1702
    • Lawlor, P.A.1    Bland, R.J.2    Mouravlev, A.3    Young, D.4    During, M.J.5
  • 112
    • 84879041937 scopus 로고    scopus 로고
    • Glial promoter selectivity following AAV-delivery to the immature brain
    • von Jonquieres, G. et al. Glial promoter selectivity following AAV-delivery to the immature brain. PLoS ONE 8, e65646 (2013).
    • (2013) Plos ONE , vol.8
    • von Jonquieres, G.1
  • 113
    • 84893586080 scopus 로고    scopus 로고
    • Intracerebroventricular injection of adeno-associated virus 6 and 9 vectors for cell type-specific transgene expression in the spinal cord
    • Dirren, E. et al. Intracerebroventricular injection of adeno-associated virus 6 and 9 vectors for cell type-specific transgene expression in the spinal cord. Hum. Gene Ther. 25, 109–120 (2014).
    • (2014) Hum. Gene Ther. , vol.25 , pp. 109-120
    • Dirren, E.1
  • 114
    • 0033022953 scopus 로고    scopus 로고
    • Recombinant adeno-associated virus purification using novel methods improves infectious titer and yield
    • This paper describes a simple and universally applicable purification protocol for AAV comprising an iodixanol step gradient, which has become a commonly used alternative to caesium chloride gradients
    • Zolotukhin, S. et al. Recombinant adeno-associated virus purification using novel methods improves infectious titer and yield. Gene Ther. 6, 973–985 (1999). This paper describes a simple and universally applicable purification protocol for AAV comprising an iodixanol step gradient, which has become a commonly used alternative to caesium chloride gradients.
    • (1999) Gene Ther , vol.6 , pp. 973-985
    • Zolotukhin, S.1
  • 115
    • 84902976174 scopus 로고    scopus 로고
    • Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich’s ataxia
    • Perdomini, M. et al. Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich’s ataxia. Nat. Med. 20, 542–547 (2014).
    • (2014) Nat. Med. , vol.20 , pp. 542-547
    • Perdomini, M.1
  • 116
    • 85015189278 scopus 로고    scopus 로고
    • Design, characterization, and lead selection of therapeutic miRNAs targeting huntingtin for development of gene therapy for Huntington’s disease
    • Miniarikova, J. et al. Design, characterization, and lead selection of therapeutic miRNAs targeting huntingtin for development of gene therapy for Huntington’s disease. Mol. Ther. Nucleic Acids 5, e297 (2016).
    • (2016) Mol. Ther. Nucleic Acids , vol.5
    • Miniarikova, J.1
  • 117
    • 85016289126 scopus 로고    scopus 로고
    • CRISPR/Cas9 editing of the mutant Huntingtin allele in vitro and in vivo
    • Monteys, A. M., Ebanks, S. A., Keiser, M. S. & Davidson, B. L. CRISPR/Cas9 editing of the mutant Huntingtin allele in vitro and in vivo. Mol. Ther. 25, 12–23 (2017).
    • (2017) Mol. Ther. , vol.25 , pp. 12-23
    • Monteys, A.M.1    Ebanks, S.A.2    Keiser, M.S.3    Davidson, B.L.4
  • 118
    • 33744825168 scopus 로고    scopus 로고
    • Immune responses to AAV in a phase I study for Canavan disease
    • McPhee, S. W. et al. Immune responses to AAV in a phase I study for Canavan disease. J. Gene Med. 8, 577–588 (2006).
    • (2006) J. Gene Med. , vol.8 , pp. 577-588
    • McPhee, S.W.1
  • 119
    • 84871525461 scopus 로고    scopus 로고
    • Long-term follow-up after gene therapy for canavan disease
    • 165ra163
    • Leone, P. et al. Long-term follow-up after gene therapy for canavan disease. Sci. Transl Med. 4, 165ra163 (2012).
    • (2012) Sci. Transl Med. , vol.4
    • Leone, P.1
  • 120
    • 44949222522 scopus 로고    scopus 로고
    • Results from a phase I safety trial of hAADC gene therapy for Parkinson disease
    • This article presents the initial results from one of the first CNS-targeted gene therapy trials and highlights the safety of IPa AAV delivery and AADC transgene expression in patients with PD
    • Eberling, J. L. et al. Results from a phase I safety trial of hAADC gene therapy for Parkinson disease. Neurology 70, 1980–1983 (2008). This article presents the initial results from one of the first CNS-targeted gene therapy trials and highlights the safety of IPa AAV delivery and AADC transgene expression in patients with PD.
    • (2008) Neurology , vol.70 , pp. 1980-1983
    • Eberling, J.L.1
  • 121
    • 79952740079 scopus 로고    scopus 로고
    • AAV2-GAD gene therapy for advanced Parkinson’s disease: A double-blind, sham-surgery controlled, randomised trial
    • LeWitt, P. A. et al. AAV2-GAD gene therapy for advanced Parkinson’s disease: a double-blind, sham-surgery controlled, randomised trial. Lancet Neurol. 10, 309–319 (2011).
    • (2011) Lancet Neurol , vol.10 , pp. 309-319
    • Lewitt, P.A.1
  • 122
    • 38949196405 scopus 로고    scopus 로고
    • Issues regarding gene therapy products for Parkinson’s disease: The development of CERE-120 (AAV-NTN) as one reference point
    • Bartus, R. T. et al. Issues regarding gene therapy products for Parkinson’s disease: the development of CERE-120 (AAV-NTN) as one reference point. Parkinsonism Relat. Disord. 13 (Suppl. 3), S469–S477 (2007).
    • (2007) Parkinsonism Relat. Disord , vol.13 , pp. S469-S477
    • Bartus, R.T.1
  • 123
    • 84880520936 scopus 로고    scopus 로고
    • Intranasal antibody gene transfer in mice and ferrets elicits broad protection against pandemic influenza
    • Limberis, M. P. et al. Intranasal antibody gene transfer in mice and ferrets elicits broad protection against pandemic influenza. Sci. Transl Med. 5, 187ra72 (2013).
    • (2013) Sci. Transl Med. , vol.5
    • Limberis, M.P.1
  • 124
    • 85026391149 scopus 로고    scopus 로고
    • Genome editing abrogates angiogenesis in vivo
    • Huang, X. et al. Genome editing abrogates angiogenesis in vivo. Nat. Commun. 8, 112 (2017).
    • (2017) Nat. Commun. , vol.8 , pp. 112
    • Huang, X.1
  • 125
    • 85015295355 scopus 로고    scopus 로고
    • Nrl knockdown by AAV-delivered CRISPR/ Cas9 prevents retinal degeneration in mice
    • Yu, W. et al. Nrl knockdown by AAV-delivered CRISPR/ Cas9 prevents retinal degeneration in mice. Nat. Commun. 8, 14716 (2017).
    • (2017) Nat. Commun. , vol.8
    • Yu, W.1
  • 126
    • 85044263291 scopus 로고    scopus 로고
    • Dose-dependent prevention of metabolic and neurologic disease in murine MPS II by ZFN-mediated in vivo genome editing
    • Laoharawee, K. et al. Dose-dependent prevention of metabolic and neurologic disease in murine MPS II by ZFN-mediated in vivo genome editing. Mol. Ther. 26, 1127–1136 (2018).
    • (2018) Mol. Ther. , vol.26 , pp. 1127-1136
    • Laoharawee, K.1
  • 127
    • 85053082680 scopus 로고    scopus 로고
    • Designed zinc finger protein transcription factors for single-gene regulation throughout the central nervous system [abstract 949]
    • Zeitler, B. J. et al. Designed zinc finger protein transcription factors for single-gene regulation throughout the central nervous system [abstract 949]. Mol. Ther. (2018).
    • (2018) Mol. Ther.
    • Zeitler, B.J.1
  • 129
    • 85044613077 scopus 로고    scopus 로고
    • Anti-amyloid-beta monoclonal antibodies for Alzheimer’s disease: Pitfalls and promise
    • van Dyck, C. H. Anti-amyloid-beta monoclonal antibodies for Alzheimer’s disease: pitfalls and promise. Biol. Psychiatry 83, 311–319 (2018).
    • (2018) Biol. Psychiatry , vol.83 , pp. 311-319
    • van Dyck, C.H.1
  • 130
    • 79957495282 scopus 로고    scopus 로고
    • Therapeutic antibodies for brain disorders
    • Paul, S. M. Therapeutic antibodies for brain disorders. Sci. Transl Med. 3, 84ps20 (2011).
    • (2011) Sci. Transl Med. , vol.3
    • Paul, S.M.1
  • 131
    • 84926521955 scopus 로고    scopus 로고
    • Highly efficient Cas9-mediated transcriptional programming
    • Chavez, A. et al. Highly efficient Cas9-mediated transcriptional programming. Nat. Methods 12, 326–328 (2015).
    • (2015) Nat. Methods , vol.12 , pp. 326-328
    • Chavez, A.1
  • 132
    • 84929135130 scopus 로고    scopus 로고
    • Epigenome editing by a CRISPR-Cas9-based acetyltransferase activates genes from promoters and enhancers
    • Hilton, I. B. et al. Epigenome editing by a CRISPR-Cas9-based acetyltransferase activates genes from promoters and enhancers. Nat. Biotechnol. 33, 510–517 (2015).
    • (2015) Nat. Biotechnol. , vol.33 , pp. 510-517
    • Hilton, I.B.1
  • 133
    • 85006307718 scopus 로고    scopus 로고
    • Naturally occurring off-switches for CRISPR-Cas9
    • Pawluk, A. et al. Naturally occurring off-switches for CRISPR-Cas9. Cell 167, 1829–1838.e9 (2016).
    • (2016) Cell , vol.167 , pp. 1829-1838
    • Pawluk, A.1
  • 134
    • 84963941043 scopus 로고    scopus 로고
    • High-fidelity CRISPR-Cas9 nucleases with no detectable genome-wide off-target effects
    • Kleinstiver, B. P. et al. High-fidelity CRISPR-Cas9 nucleases with no detectable genome-wide off-target effects. Nature 529, 490–495 (2016).
    • (2016) Nature , vol.529 , pp. 490-495
    • Kleinstiver, B.P.1
  • 135
    • 85011072174 scopus 로고    scopus 로고
    • Multiplex gene editing by CRISPR-Cpf1 using a single crRNA array
    • Zetsche, B. et al. Multiplex gene editing by CRISPR-Cpf1 using a single crRNA array. Nat. Biotechnol. 35, 31–34 (2017).
    • (2017) Nat. Biotechnol. , vol.35 , pp. 31-34
    • Zetsche, B.1
  • 136
    • 85031099583 scopus 로고    scopus 로고
    • Enhanced proofreading governs CRISPR-Cas9 targeting accuracy
    • Chen, J. S. et al. Enhanced proofreading governs CRISPR-Cas9 targeting accuracy. Nature 550, 407–410 (2017).
    • (2017) Nature , vol.550 , pp. 407-410
    • Chen, J.S.1
  • 137
    • 85022143145 scopus 로고    scopus 로고
    • Engineered Cpf1 variants with altered PAM specificities
    • Gao, L. et al. Engineered Cpf1 variants with altered PAM specificities. Nat. Biotechnol. 35, 789–792 (2017).
    • (2017) Nat. Biotechnol. , vol.35 , pp. 789-792
    • Gao, L.1
  • 138
    • 85032331429 scopus 로고    scopus 로고
    • RNA editing with CRISPR-Cas13
    • Cox, D. B. T. et al. RNA editing with CRISPR-Cas13. Science 358, 1019–1027 (2017).
    • (2017) Science , vol.358 , pp. 1019-1027
    • Cox, D.B.T.1
  • 139
    • 84974606818 scopus 로고    scopus 로고
    • C2c2 is a single-component programmable RNA-guided RNA-targeting CRISPR effector
    • Abudayyeh, O. O. et al. C2c2 is a single-component programmable RNA-guided RNA-targeting CRISPR effector. Science 353, aaf5573 (2016).
    • (2016) Science , vol.353
    • Abudayyeh, O.O.1
  • 140
    • 85045114654 scopus 로고    scopus 로고
    • Base editing with a Cpf1-cytidine deaminase fusion
    • Li, X. et al. Base editing with a Cpf1-cytidine deaminase fusion. Nat. Biotechnol. 36, 324–327 (2018).
    • (2018) Nat. Biotechnol. , vol.36 , pp. 324-327
    • Li, X.1
  • 141
    • 84971006562 scopus 로고    scopus 로고
    • Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage
    • Komor, A. C., Kim, Y. B., Packer, M. S., Zuris, J. A. & Liu, D. R. Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage. Nature 533, 420–424 (2016).
    • (2016) Nature , vol.533 , pp. 420-424
    • Komor, A.C.1    Kim, Y.B.2    Packer, M.S.3    Zuris, J.A.4    Liu, D.R.5
  • 142
    • 85034861903 scopus 로고    scopus 로고
    • Programmable base editing of A*T to G*C in genomic DNA without DNA cleavage
    • Gaudelli, N. M. et al. Programmable base editing of A*T to G*C in genomic DNA without DNA cleavage. Nature 551, 464–471 (2017).
    • (2017) Nature , vol.551 , pp. 464-471
    • Gaudelli, N.M.1
  • 143
    • 85056804094 scopus 로고    scopus 로고
    • Update on phase 1/2 clinical trials for MPS I and MPS II using ZFN-mediated in vivo genome editing
    • Harmatz, P. et al. Update on phase 1/2 clinical trials for MPS I and MPS II using ZFN-mediated in vivo genome editing. Mol. Genet. Metab. 123, S59–S60 (2018).
    • (2018) Mol. Genet. Metab. , vol.123 , pp. S59-S60
    • Harmatz, P.1
  • 144
    • 27644465844 scopus 로고    scopus 로고
    • RNAi the natural way
    • Cullen, B. R. RNAi the natural way. Nat. Genet. 37, 1163–1165 (2005).
    • (2005) Nat. Genet. , vol.37 , pp. 1163-1165
    • Cullen, B.R.1
  • 146
    • 84885023525 scopus 로고    scopus 로고
    • Silencing mutant ATXN3 expression resolves molecular phenotypes in SCA3 transgenic mice
    • Rodriguez-Lebron, E. et al. Silencing mutant ATXN3 expression resolves molecular phenotypes in SCA3 transgenic mice. Mol. Ther. 21, 1909–1918 (2013).
    • (2013) Mol. Ther. , vol.21 , pp. 1909-1918
    • Rodriguez-Lebron, E.1
  • 147
    • 84902952909 scopus 로고    scopus 로고
    • Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: Results of a phase I/II trial
    • Tardieu, M. et al. Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial. Hum. Gene Ther. 25, 506–516 (2014).
    • (2014) Hum. Gene Ther. , vol.25 , pp. 506-516
    • Tardieu, M.1
  • 148
    • 44449173870 scopus 로고    scopus 로고
    • GFAP promoter elements required for region-specific and astrocyte-specific expression
    • Lee, Y., Messing, A., Su, M. & Brenner, M. GFAP promoter elements required for region-specific and astrocyte-specific expression. Glia 56, 481–493 (2008).
    • (2008) Glia , vol.56 , pp. 481-493
    • Lee, Y.1    Messing, A.2    Su, M.3    Brenner, M.4
  • 149
    • 84992735630 scopus 로고    scopus 로고
    • A viral strategy for targeting and manipulating interneurons across vertebrate species
    • Dimidschstein, J. et al. A viral strategy for targeting and manipulating interneurons across vertebrate species. Nat. Neurosci. 19, 1743–1749 (2016).
    • (2016) Nat. Neurosci. , vol.19 , pp. 1743-1749
    • Dimidschstein, J.1
  • 150
    • 84971254695 scopus 로고    scopus 로고
    • RAAV-compatible MiniPromoters for restricted expression in the brain and eye
    • de Leeuw, C. N. et al. rAAV-compatible MiniPromoters for restricted expression in the brain and eye. Mol. Brain 9, 52 (2016).
    • (2016) Mol. Brain , vol.9 , pp. 52
    • de Leeuw, C.N.1
  • 151
    • 80052982705 scopus 로고    scopus 로고
    • Optimizing promoters for recombinant adeno-associated virus-mediated gene expression in the peripheral and central nervous system using self-complementary vectors
    • Gray, S. J. et al. Optimizing promoters for recombinant adeno-associated virus-mediated gene expression in the peripheral and central nervous system using self-complementary vectors. Hum. Gene Ther. 22, 1143–1153 (2011).
    • (2011) Hum. Gene Ther. , vol.22 , pp. 1143-1153
    • Gray, S.J.1
  • 152
    • 0037019811 scopus 로고    scopus 로고
    • Generation of a synthetic mammalian promoter library by modification of sequences spacing transcription factor binding sites
    • Tornoe, J., Kusk, P., Johansen, T. E. & Jensen, P. R. Generation of a synthetic mammalian promoter library by modification of sequences spacing transcription factor binding sites. Gene 297, 21–32 (2002).
    • (2002) Gene , vol.297 , pp. 21-32
    • Tornoe, J.1    Kusk, P.2    Johansen, T.E.3    Jensen, P.R.4
  • 153
    • 34548160395 scopus 로고    scopus 로고
    • Reduction of arthritis following intra-articular administration of an adeno-associated virus serotype 5 expressing a disease-inducible TNF-blocking agent
    • Adriaansen, J. et al. Reduction of arthritis following intra-articular administration of an adeno-associated virus serotype 5 expressing a disease-inducible TNF-blocking agent. Ann. Rheum. Dis. 66, 1143–1150 (2007).
    • (2007) Ann. Rheum. Dis. , vol.66 , pp. 1143-1150
    • Adriaansen, J.1
  • 154
    • 36348981089 scopus 로고    scopus 로고
    • Application of a disease-regulated promoter is a safer mode of local IL-4 gene therapy for arthritis
    • Geurts, J. et al. Application of a disease-regulated promoter is a safer mode of local IL-4 gene therapy for arthritis. Gene Ther. 14, 1632–1638 (2007).
    • (2007) Gene Ther , vol.14 , pp. 1632-1638
    • Geurts, J.1
  • 155
    • 84871908609 scopus 로고    scopus 로고
    • An adeno-associated virus-based intracellular sensor of pathological nuclear factor-kappaB activation for disease-inducible gene transfer
    • Chtarto, A. et al. An adeno-associated virus-based intracellular sensor of pathological nuclear factor-kappaB activation for disease-inducible gene transfer. PLoS ONE 8, e53156 (2013).
    • (2013) Plos ONE , vol.8
    • Chtarto, A.1
  • 156
    • 84938271246 scopus 로고    scopus 로고
    • Intracisternal delivery of NFkappaB-inducible scAAV2/9 reveals locoregional neuroinflammation induced by systemic kainic acid treatment
    • Bockstael, O. et al. Intracisternal delivery of NFkappaB-inducible scAAV2/9 reveals locoregional neuroinflammation induced by systemic kainic acid treatment. Front. Mol. Neurosci. 7, 92 (2014).
    • (2014) Front. Mol. Neurosci. , vol.7 , Issue.92
    • Bockstael, O.1
  • 157
    • 37249078258 scopus 로고    scopus 로고
    • Adeno-associated viral vector-mediated hypoxia-regulated VEGF gene transfer promotes angiogenesis following focal cerebral ischemia in mice
    • Shen, F. et al. Adeno-associated viral vector-mediated hypoxia-regulated VEGF gene transfer promotes angiogenesis following focal cerebral ischemia in mice. Gene Ther. 15, 30–39 (2008).
    • (2008) Gene Ther , vol.15 , pp. 30-39
    • Shen, F.1
  • 158
    • 0025269031 scopus 로고
    • Intervening sequences increase efficiency of RNA 3ʹ processing and accumulation of cytoplasmic RNA
    • Huang, M. T. & Gorman, C. M. Intervening sequences increase efficiency of RNA 3ʹ processing and accumulation of cytoplasmic RNA. Nucleic Acids Res. 18, 937–947 (1990).
    • (1990) Nucleic Acids Res , vol.18 , pp. 937-947
    • Huang, M.T.1    Gorman, C.M.2
  • 159
    • 0035002059 scopus 로고    scopus 로고
    • Interruption of coding sequences by heterologous introns can enhance the functional expression of recombinant genes
    • Lacy-Hulbert, A. et al. Interruption of coding sequences by heterologous introns can enhance the functional expression of recombinant genes. Gene Ther. 8, 649–653 (2001).
    • (2001) Gene Ther , vol.8 , pp. 649-653
    • Lacy-Hulbert, A.1
  • 160
    • 84898477363 scopus 로고    scopus 로고
    • Optimization of AAV expression cassettes to improve packaging capacity and transgene expression in neurons
    • Choi, J. H. et al. Optimization of AAV expression cassettes to improve packaging capacity and transgene expression in neurons. Mol. Brain 7, 17 (2014).
    • (2014) Mol. Brain , vol.7 , pp. 17
    • Choi, J.H.1
  • 161
    • 79952193362 scopus 로고    scopus 로고
    • MicroRNA-regulated, systemically delivered rAAV9: A step closer to CNS-restricted transgene expression
    • Xie, J. et al. MicroRNA-regulated, systemically delivered rAAV9: a step closer to CNS-restricted transgene expression. Mol. Ther. 19, 526–535 (2010).
    • (2010) Mol. Ther. , vol.19 , pp. 526-535
    • Xie, J.1
  • 162
    • 84880409307 scopus 로고    scopus 로고
    • Mir-142-3p target sequences reduce transgene-directed immunogenicity following intramuscular adeno-associated virus 1 vector-mediated gene delivery
    • Majowicz, A. et al. Mir-142-3p target sequences reduce transgene-directed immunogenicity following intramuscular adeno-associated virus 1 vector-mediated gene delivery. J. Gene Med. 15, 219–232 (2013).
    • (2013) J. Gene Med. , vol.15 , pp. 219-232
    • Majowicz, A.1
  • 163
    • 84879984918 scopus 로고    scopus 로고
    • Tuning gene expression with synthetic upstream open reading frames
    • Ferreira, J. P., Overton, K. W. & Wang, C. L. Tuning gene expression with synthetic upstream open reading frames. Proc. Natl Acad. Sci. USA 110, 11284–11289 (2013).
    • (2013) Proc. Natl Acad. Sci. USA , vol.110 , pp. 11284-11289
    • Ferreira, J.P.1    Overton, K.W.2    Wang, C.L.3
  • 164
    • 78751681902 scopus 로고    scopus 로고
    • Codon optimization of human factor VIII cDNAs leads to high-level expression
    • Ward, N. J. et al. Codon optimization of human factor VIII cDNAs leads to high-level expression. Blood 117, 798–807 (2011).
    • (2011) Blood , vol.117 , pp. 798-807
    • Ward, N.J.1
  • 165
    • 38949107300 scopus 로고    scopus 로고
    • Analysis of factor VIII mediated suppression of lentiviral vector titres
    • Radcliffe, P. A. et al. Analysis of factor VIII mediated suppression of lentiviral vector titres. Gene Ther. 15, 289–297 (2008).
    • (2008) Gene Ther , vol.15 , pp. 289-297
    • Radcliffe, P.A.1
  • 166
    • 84875240244 scopus 로고    scopus 로고
    • Adeno-associated virus (AAV) gene therapy for neurological disease
    • Weinberg, M. S., Samulski, R. J. & McCown, T. J. Adeno-associated virus (AAV) gene therapy for neurological disease. Neuropharmacology 69, 82–88 (2013).
    • (2013) Neuropharmacology , vol.69 , pp. 82-88
    • Weinberg, M.S.1    Samulski, R.J.2    McCown, T.J.3
  • 167
    • 85015168703 scopus 로고    scopus 로고
    • Widespread AAV1-and AAV2-mediated transgene expression in the nonhuman primate brain: Implications for Huntington’s disease
    • Hadaczek, P. et al. Widespread AAV1-and AAV2-mediated transgene expression in the nonhuman primate brain: implications for Huntington’s disease. Mol. Ther. Methods Clin. Dev. 3, 16037 (2016).
    • (2016) Mol. Ther. Methods Clin. Dev. , vol.3 , pp. 16037
    • Hadaczek, P.1
  • 168
    • 60549099179 scopus 로고    scopus 로고
    • Efficient gene therapy-based method for the delivery of therapeutics to primate cortex
    • Kells, A. P. et al. Efficient gene therapy-based method for the delivery of therapeutics to primate cortex. Proc. Natl Acad. Sci. USA 106, 2407–2411 (2009).
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , pp. 2407-2411
    • Kells, A.P.1
  • 169
    • 34548610909 scopus 로고    scopus 로고
    • A single injection of an adeno-associated virus vector into nuclei with divergent connections results in widespread vector distribution in the brain and global correction of a neurogenetic disease
    • Cearley, C. N. & Wolfe, J. H. A single injection of an adeno-associated virus vector into nuclei with divergent connections results in widespread vector distribution in the brain and global correction of a neurogenetic disease. J. Neurosci. 27, 9928–9940 (2007).
    • (2007) J. Neurosci. , vol.27 , pp. 9928-9940
    • Cearley, C.N.1    Wolfe, J.H.2
  • 170
    • 84906279894 scopus 로고    scopus 로고
    • Adeno-associated virus serotypes 1, 8, and 9 share conserved mechanisms for anterograde and retrograde axonal transport
    • Castle, M. J., Gershenson, Z. T., Giles, A. R., Holzbaur, E. L. & Wolfe, J. H. Adeno-associated virus serotypes 1, 8, and 9 share conserved mechanisms for anterograde and retrograde axonal transport. Hum. Gene Ther. 25, 705–720 (2014).
    • (2014) Hum. Gene Ther. , vol.25 , pp. 705-720
    • Castle, M.J.1    Gershenson, Z.T.2    Giles, A.R.3    Holzbaur, E.L.4    Wolfe, J.H.5
  • 171
    • 84961390363 scopus 로고    scopus 로고
    • Axonal transport of AAV9 in nonhuman primate brain
    • Green, F. et al. Axonal transport of AAV9 in nonhuman primate brain. Gene Ther. 23, 520–526 (2016).
    • (2016) Gene Ther , vol.23 , pp. 520-526
    • Green, F.1
  • 172
    • 84964695778 scopus 로고    scopus 로고
    • Intracerebral gene therapy using AAVrh.10-hARSA recombinant vector to treat patients with early-onset forms of metachromatic leukodystrophy: Preclinical feasibility and safety assessments in nonhuman primates
    • Zerah, M. et al. Intracerebral gene therapy using AAVrh.10-hARSA recombinant vector to treat patients with early-onset forms of metachromatic leukodystrophy: preclinical feasibility and safety assessments in nonhuman primates. Hum. Gene Ther. Clin. Dev. 26, 113–124 (2015).
    • (2015) Hum. Gene Ther. Clin. Dev. , vol.26 , pp. 113-124
    • Zerah, M.1
  • 173
    • 85023745177 scopus 로고    scopus 로고
    • Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: An uncontrolled phase 1/2 clinical trial
    • Tardieu, M. et al. Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial. Lancet Neurol. 16, 712–720 (2017).
    • (2017) Lancet Neurol , vol.16 , pp. 712-720
    • Tardieu, M.1
  • 174
    • 0029001712 scopus 로고
    • Convection-enhanced distribution of large molecules in gray matter during interstitial drug infusion
    • Lieberman, D. M., Laske, D. W., Morrison, P. F., Bankiewicz, K. S. & Oldfield, E. H. Convection-enhanced distribution of large molecules in gray matter during interstitial drug infusion. J. Neurosurg. 82, 1021–1029 (1995).
    • (1995) J. Neurosurg. , vol.82 , pp. 1021-1029
    • Lieberman, D.M.1    Laske, D.W.2    Morrison, P.F.3    Bankiewicz, K.S.4    Oldfield, E.H.5
  • 175
    • 85029280741 scopus 로고    scopus 로고
    • Rationally engineered AAV capsids improve transduction and volumetric spread in the CNS
    • Kanaan, N. M. et al. Rationally engineered AAV capsids improve transduction and volumetric spread in the CNS. Mol. Ther. Nucleic Acids 8, 184–197 (2017).
    • (2017) Mol. Ther. Nucleic Acids , vol.8 , pp. 184-197
    • Kanaan, N.M.1
  • 176
    • 84927155708 scopus 로고    scopus 로고
    • Intrathecal gene therapy corrects CNS pathology in a feline model of mucopolysaccharidosis I
    • Hinderer, C. et al. Intrathecal gene therapy corrects CNS pathology in a feline model of mucopolysaccharidosis I. Mol. Ther. 22, 2018–2027 (2014).
    • (2014) Mol. Ther. , vol.22 , pp. 2018-2027
    • Hinderer, C.1
  • 177
    • 79961032418 scopus 로고    scopus 로고
    • Several rAAV vectors efficiently cross the blood–brain barrier and transduce neurons and astrocytes in the neonatal mouse central nervous system
    • Zhang, H. et al. Several rAAV vectors efficiently cross the blood–brain barrier and transduce neurons and astrocytes in the neonatal mouse central nervous system. Mol. Ther. 19, 1440–1448 (2011).
    • (2011) Mol. Ther. , vol.19 , pp. 1440-1448
    • Zhang, H.1
  • 178
    • 84903760379 scopus 로고    scopus 로고
    • Global CNS transduction of adult mice by intravenously delivered rAAVrh.8 and rAAVrh.10 and nonhuman primates by rAAVrh.10
    • Yang, B. et al. Global CNS transduction of adult mice by intravenously delivered rAAVrh.8 and rAAVrh.10 and nonhuman primates by rAAVrh.10. Mol. Ther. 22, 1299–1309 (2014).
    • (2014) Mol. Ther. , vol.22 , pp. 1299-1309
    • Yang, B.1
  • 179
    • 84864868331 scopus 로고    scopus 로고
    • Novel random peptide libraries displayed on AAV serotype 9 for selection of endothelial cell-directed gene transfer vectors
    • Varadi, K. et al. Novel random peptide libraries displayed on AAV serotype 9 for selection of endothelial cell-directed gene transfer vectors. Gene Ther. 19, 800–809 (2012).
    • (2012) Gene Ther , vol.19 , pp. 800-809
    • Varadi, K.1
  • 180
    • 85043267068 scopus 로고    scopus 로고
    • Severe toxicity in nonhuman primates and piglets following high-dose intravenous administration of an adeno-associated virus vector expressing human SMN
    • Hinderer, C. et al. Severe toxicity in nonhuman primates and piglets following high-dose intravenous administration of an adeno-associated virus vector expressing human SMN. Hum. Gene Ther. 29, 285–298 (2018).
    • (2018) Hum. Gene Ther. , vol.29 , pp. 285-298
    • Hinderer, C.1
  • 181
    • 85031020157 scopus 로고    scopus 로고
    • Direct head-to-head evaluation of recombinant adeno-associated viral vectors manufactured in human versus insect cells
    • Kondratov, O. et al. Direct head-to-head evaluation of recombinant adeno-associated viral vectors manufactured in human versus insect cells. Mol. Ther. 25, 2661–2675 (2017).
    • (2017) Mol. Ther. , vol.25 , pp. 2661-2675
    • Kondratov, O.1
  • 182
    • 85015200249 scopus 로고    scopus 로고
    • A scalable method for the production of high-titer and high-quality adeno-associated type 9 vectors using the HSV platform
    • Adamson-Small, L. et al. A scalable method for the production of high-titer and high-quality adeno-associated type 9 vectors using the HSV platform. Mol. Ther. Methods Clin. Dev. 3, 16031 (2016).
    • (2016) Mol. Ther. Methods Clin. Dev. , vol.3
    • Adamson-Small, L.1
  • 183
    • 0033054126 scopus 로고    scopus 로고
    • High-titer recombinant adeno-associated virus production utilizing a recombinant herpes simplex virus type I vector expressing AAV-2 Rep and Cap
    • Conway, J. E. et al. High-titer recombinant adeno-associated virus production utilizing a recombinant herpes simplex virus type I vector expressing AAV-2 Rep and Cap. Gene Ther. 6, 986–993 (1999).
    • (1999) Gene Ther , vol.6 , pp. 986-993
    • Conway, J.E.1
  • 184
    • 68949210394 scopus 로고    scopus 로고
    • Large-scale adeno-associated viral vector production using a herpesvirus-based system enables manufacturing for clinical studies
    • Clément, N., Knop, D. R. & Byrne, B. J. Large-scale adeno-associated viral vector production using a herpesvirus-based system enables manufacturing for clinical studies. Hum. Gene Ther. 20, 796–806 (2009).
    • (2009) Hum. Gene Ther. , vol.20 , pp. 796-806
    • Clément, N.1    Knop, D.R.2    Byrne, B.J.3
  • 185
    • 0034295382 scopus 로고    scopus 로고
    • Selective Rep-Cap gene amplification as a mechanism for high-titer recombinant AAV production from stable cell lines
    • Liu, X., Voulgaropoulou, F., Chen, R., Johnson, P. R. & Clark, K. R. Selective Rep-Cap gene amplification as a mechanism for high-titer recombinant AAV production from stable cell lines. Mol. Ther. 2, 394–403 (2000).
    • (2000) Mol. Ther. , vol.2 , pp. 394-403
    • Liu, X.1    Voulgaropoulou, F.2    Chen, R.3    Johnson, P.R.4    Clark, K.R.5
  • 186
    • 0030458783 scopus 로고    scopus 로고
    • A stable cell line carrying adenovirus-inducible rep and cap genes allows for infectivity titration of adeno-associated virus vectors
    • Clark, K. R., Voulgaropoulou, F. & Johnson, P. R. A stable cell line carrying adenovirus-inducible rep and cap genes allows for infectivity titration of adeno-associated virus vectors. Gene Ther. 3, 1124–1132 (1996).
    • (1996) Gene Ther , vol.3 , pp. 1124-1132
    • Clark, K.R.1    Voulgaropoulou, F.2    Johnson, P.R.3
  • 187
    • 0028889443 scopus 로고
    • Cell lines for the production of recombinant adeno-associated virus
    • Clark, K. R., Voulgaropoulou, F., Fraley, D. M. & Johnson, P. R. Cell lines for the production of recombinant adeno-associated virus. Hum. Gene Ther. 6, 1329–1341 (1995).
    • (1995) Hum. Gene Ther. , vol.6 , pp. 1329-1341
    • Clark, K.R.1    Voulgaropoulou, F.2    Fraley, D.M.3    Johnson, P.R.4
  • 189
    • 84973342068 scopus 로고    scopus 로고
    • Intracerebral adeno-associated virus gene delivery of apolipoprotein E2 markedly reduces brain amyloid pathology in Alzheimer’s disease mouse models
    • Zhao, L. et al. Intracerebral adeno-associated virus gene delivery of apolipoprotein E2 markedly reduces brain amyloid pathology in Alzheimer’s disease mouse models. Neurobiol. Aging 44, 159–172 (2016).
    • (2016) Neurobiol. Aging , vol.44 , pp. 159-172
    • Zhao, L.1
  • 190
    • 84964612393 scopus 로고    scopus 로고
    • Clinical tests of neurotrophic factors for human neurodegenerative diseases, part 1: Where have we been and what have we learned?
    • Bartus, R. T. & Johnson, E. M. Jr. Clinical tests of neurotrophic factors for human neurodegenerative diseases, part 1: where have we been and what have we learned? Neurobiol. Dis. 97, 156–168 (2017).
    • (2017) Neurobiol. Dis , vol.97 , pp. 156-168
    • Bartus, R.T.1    Johnson, E.M.2
  • 191
    • 84980395560 scopus 로고    scopus 로고
    • Transplantation of spinal cord-derived neural stem cells for ALS: Analysis of phase 1 and 2 trials
    • Glass, J. D. et al. Transplantation of spinal cord-derived neural stem cells for ALS: analysis of phase 1 and 2 trials. Neurology 87, 392–400 (2016).
    • (2016) Neurology , vol.87 , pp. 392-400
    • Glass, J.D.1
  • 192
    • 84858005636 scopus 로고    scopus 로고
    • Neutralizing antibodies against adeno-associated virus examined prospectively in pediatric patients with hemophilia
    • Li, C. et al. Neutralizing antibodies against adeno-associated virus examined prospectively in pediatric patients with hemophilia. Gene Ther. 19, 288–294 (2012).
    • (2012) Gene Ther , vol.19 , pp. 288-294
    • Li, C.1
  • 193
    • 33645923713 scopus 로고    scopus 로고
    • Prevalence of neutralizing antibodies against adeno-associated virus (AAV) types 2, 5, and 6 in cystic fibrosis and normal populations: Implications for gene therapy using AAV vectors
    • Halbert, C. L. et al. Prevalence of neutralizing antibodies against adeno-associated virus (AAV) types 2, 5, and 6 in cystic fibrosis and normal populations: implications for gene therapy using AAV vectors. Hum. Gene Ther. 17, 440–447 (2006).
    • (2006) Hum. Gene Ther. , vol.17 , pp. 440-447
    • Halbert, C.L.1
  • 194
    • 80052497157 scopus 로고    scopus 로고
    • Adeno-associated virus antibody profiles in newborns, children, and adolescents
    • Calcedo, R. et al. Adeno-associated virus antibody profiles in newborns, children, and adolescents. Clin. Vaccine Immunol. 18, 1586–1588 (2011).
    • (2011) Clin. Vaccine Immunol. , vol.18 , pp. 1586-1588
    • Calcedo, R.1
  • 195
    • 33645798271 scopus 로고    scopus 로고
    • Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH
    • Lugtenberg, D. et al. Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. J. Med. Genet. 43, 362–370 (2006).
    • (2006) J. Med. Genet. , vol.43 , pp. 362-370
    • Lugtenberg, D.1
  • 196
    • 84864824367 scopus 로고    scopus 로고
    • A partial MECP2 duplication in a mildly affected adult male: A putative role for the 3’ untranslated region in the MECP2 duplication phenotype
    • Hanchard, N. A. et al. A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3’ untranslated region in the MECP2 duplication phenotype. BMC Med. Genet. 13, 71 (2012).
    • (2012) BMC Med. Genet. , vol.13 , pp. 71
    • Hanchard, N.A.1
  • 197
    • 33845772985 scopus 로고    scopus 로고
    • Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28
    • Friez, M. J. et al. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics 118, e1687-95 (2006).
    • (2006) Pediatrics , vol.118 , pp. e1687-e1695
    • Friez, M.J.1
  • 198
    • 23944503759 scopus 로고    scopus 로고
    • Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
    • Van Esch, H. et al. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am. J. Hum. Genet. 77, 442–453 (2005).
    • (2005) Am. J. Hum. Genet. , vol.77 , pp. 442-453
    • van Esch, H.1
  • 199
    • 23944509593 scopus 로고    scopus 로고
    • Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome
    • Meins, M. et al. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. J. Med. Genet. 42, e12 (2005).
    • (2005) J. Med. Genet. , vol.42
    • Meins, M.1
  • 200
    • 3442895308 scopus 로고    scopus 로고
    • Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication
    • Ariani, F. et al. Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: report of one case of MECP2 deletion and one case of MECP2 duplication. Hum. Mutat. 24, 172–177 (2004).
    • (2004) Hum. Mutat. , vol.24 , pp. 172-177
    • Ariani, F.1
  • 201
    • 84857519646 scopus 로고    scopus 로고
    • A mouse model for MeCP2 duplication syndrome: MeCP2 overexpression impairs learning and memory and synaptic transmission
    • Na, E. S. et al. A mouse model for MeCP2 duplication syndrome: MeCP2 overexpression impairs learning and memory and synaptic transmission. J. Neurosci. 32, 3109–3117 (2012).
    • (2012) J. Neurosci. , vol.32 , pp. 3109-3117
    • Na, E.S.1
  • 202
    • 0029055717 scopus 로고
    • Targeted disruption of the Huntington’s disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes
    • Nasir, J. et al. Targeted disruption of the Huntington’s disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell 81, 811–823 (1995).
    • (1995) Cell , vol.81 , pp. 811-823
    • Nasir, J.1
  • 203
    • 0030613177 scopus 로고    scopus 로고
    • Huntingtin is required for neurogenesis and is not impaired by the Huntington’s disease CAG expansion
    • White, J. K. et al. Huntingtin is required for neurogenesis and is not impaired by the Huntington’s disease CAG expansion. Nat. Genet. 17, 404–410 (1997).
    • (1997) Nat. Genet. , vol.17 , pp. 404-410
    • White, J.K.1
  • 204
    • 82955199935 scopus 로고    scopus 로고
    • Preclinical safety of RNAi-mediated HTT suppression in the rhesus macaque as a potential therapy for Huntington’s disease
    • McBride, J. L. et al. Preclinical safety of RNAi-mediated HTT suppression in the rhesus macaque as a potential therapy for Huntington’s disease. Mol. Ther. 19, 2152–2162 (2011).
    • (2011) Mol. Ther. , vol.19 , pp. 2152-2162
    • McBride, J.L.1
  • 205
    • 85048587347 scopus 로고    scopus 로고
    • Randomized, double-blind, placebo-controlled trial of arimoclomol in rapidly progressive SOD1 ALS
    • Benatar, M. et al. Randomized, double-blind, placebo-controlled trial of arimoclomol in rapidly progressive SOD1 ALS. Neurology 90, e565–e574 (2018).
    • (2018) Neurology , vol.90 , pp. e565-e574
    • Benatar, M.1
  • 206
    • 84898017417 scopus 로고    scopus 로고
    • Huntington disease: Natural history, biomarkers and prospects for therapeutics
    • Ross, C. A. et al. Huntington disease: natural history, biomarkers and prospects for therapeutics. Nat. Rev. Neurol. 10, 204–216 (2014).
    • (2014) Nat. Rev. Neurol. , vol.10 , pp. 204-216
    • Ross, C.A.1
  • 207
    • 84865529158 scopus 로고    scopus 로고
    • Clinical and biomarker changes in dominantly inherited Alzheimer’s disease
    • Bateman, R. J. et al. Clinical and biomarker changes in dominantly inherited Alzheimer’s disease. N. Engl. J. Med. 367, 795–804 (2012).
    • (2012) N. Engl. J. Med. , vol.367 , pp. 795-804
    • Bateman, R.J.1
  • 208
    • 85038413158 scopus 로고    scopus 로고
    • Natural history of infantile-onset spinal muscular atrophy
    • Kolb, S. J. et al. Natural history of infantile-onset spinal muscular atrophy. Ann. Neurol. 82, 883–891 (2017).
    • (2017) Ann. Neurol. , vol.82 , pp. 883-891
    • Kolb, S.J.1
  • 209
    • 85032714516 scopus 로고    scopus 로고
    • Nusinersen versus sham control in infantile-onset spinal muscular atrophy
    • Finkel, R. S. et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N. Engl. J. Med. 377, 1723–1732 (2017).
    • (2017) N. Engl. J. Med. , vol.377 , pp. 1723-1732
    • Finkel, R.S.1
  • 210
    • 0032589751 scopus 로고    scopus 로고
    • AlphaVbeta5 integrin: A co-receptor for adeno-associated virus type 2 infection
    • Summerford, C., Bartlett, J. S. & Samulski, R. J. AlphaVbeta5 integrin: a co-receptor for adeno-associated virus type 2 infection. Nat. Med. 5, 78-82 (1999).
    • (1999) Nat. Med. , vol.5 , pp. 78-82
    • Summerford, C.1    Bartlett, J.S.2    Samulski, R.J.3
  • 211
    • 78650105132 scopus 로고    scopus 로고
    • Human hepatocyte growth factor receptor is a cellular coreceptor for adeno-associated virus serotype 3
    • Ling, C. et al. Human hepatocyte growth factor receptor is a cellular coreceptor for adeno-associated virus serotype 3. Hum. Gene Ther. 21, 1741–1747 (2010).
    • (2010) Hum. Gene Ther. , vol.21 , pp. 1741-1747
    • Ling, C.1
  • 212
    • 0142105497 scopus 로고    scopus 로고
    • Identification of PDGFR as a receptor for AAV-5 transduction
    • Di Pasquale, G. et al. Identification of PDGFR as a receptor for AAV-5 transduction. Nat. Med. 9, 1306–1312 (2003).
    • (2003) Nat. Med. , vol.9 , pp. 1306-1312
    • Di Pasquale, G.1
  • 213
    • 33748945422 scopus 로고    scopus 로고
    • The 37/67-kilodalton laminin receptor is a receptor for adeno-associated virus serotypes 8, 2, 3, and 9
    • Akache, B. et al. The 37/67-kilodalton laminin receptor is a receptor for adeno-associated virus serotypes 8, 2, 3, and 9. J. Virol. 80, 9831–9836 (2006).
    • (2006) J. Virol. , vol.80 , pp. 9831-9836
    • Akache, B.1
  • 214
    • 85043790566 scopus 로고    scopus 로고
    • An alternate route for adeno-associated virus entry independent of AAVR
    • Dudek, A. M. et al. An alternate route for adeno-associated virus entry independent of AAVR. J. Virol. 92, e02213-17 (2018).
    • (2018) J. Virol , vol.92 , pp. e02213-e02217
    • Dudek, A.M.1
  • 215
    • 85050326152 scopus 로고    scopus 로고
    • AAV serotypes have distinctive interactions with domains of the cellular receptor AAVR
    • Pillay, S. et al. AAV serotypes have distinctive interactions with domains of the cellular receptor AAVR. J. Virol. 91, e00391-17 (2017).
    • (2017) J. Virol , vol.91
    • Pillay, S.1
  • 216
    • 13444310872 scopus 로고    scopus 로고
    • Mutational analysis of narrow pores at the fivefold symmetry axes of adeno-associated virus type 2 capsids reveals a dual role in genome packaging and activation of phospholipase A2 activity
    • Bleker, S., Sonntag, F. & Kleinschmidt, J. A. Mutational analysis of narrow pores at the fivefold symmetry axes of adeno-associated virus type 2 capsids reveals a dual role in genome packaging and activation of phospholipase A2 activity. J. Virol. 79, 2528–2540 (2005).
    • (2005) J. Virol. , vol.79 , pp. 2528-2540
    • Bleker, S.1    Sonntag, F.2    Kleinschmidt, J.A.3
  • 217
    • 34547117580 scopus 로고    scopus 로고
    • Surface-exposed adeno-associated virus Vp1-NLS capsid fusion protein rescues infectivity of noninfectious wild-type Vp2/Vp3 and Vp3-only capsids but not that of fivefold pore mutant virions
    • Grieger, J. C., Johnson, J. S., Gurda-Whitaker, B., Agbandje-Mckenna, M. & Samulski, R. J. Surface-exposed adeno-associated virus Vp1-NLS capsid fusion protein rescues infectivity of noninfectious wild-type Vp2/Vp3 and Vp3-only capsids but not that of fivefold pore mutant virions. J. Virol. 81, 7833–7843 (2007).
    • (2007) J. Virol. , vol.81 , pp. 7833-7843
    • Grieger, J.C.1    Johnson, J.S.2    Gurda-Whitaker, B.3    Agbandje-Mckenna, M.4    Samulski, R.J.5
  • 218
    • 33646719922 scopus 로고    scopus 로고
    • Separate basic region motifs within the adeno-associated virus capsid proteins are essential for infectivity and assembly
    • Grieger, J. C., Snowdy, S. & Samulski, R. J. Separate basic region motifs within the adeno-associated virus capsid proteins are essential for infectivity and assembly. J. Virol. 80, 5199–5210 (2006).
    • (2006) J. Virol. , vol.80 , pp. 5199-5210
    • Grieger, J.C.1    Snowdy, S.2    Samulski, R.J.3
  • 219
    • 84891716579 scopus 로고    scopus 로고
    • Adeno-associated virus capsid proteins may play a role in transcription and second-strand synthesis of recombinant genomes
    • Salganik, M. et al. Adeno-associated virus capsid proteins may play a role in transcription and second-strand synthesis of recombinant genomes. J. Virol. 88, 1071–1079 (2014).
    • (2014) J. Virol. , vol.88 , pp. 1071-1079
    • Salganik, M.1
  • 220
    • 84982214236 scopus 로고    scopus 로고
    • Mutants at the 2-fold interface of adeno-associated virus type 2 (AAV2) structural proteins suggest a role in viral transcription for AAV capsids
    • Aydemir, F. et al. Mutants at the 2-fold interface of adeno-associated virus type 2 (AAV2) structural proteins suggest a role in viral transcription for AAV capsids. J. Virol. 90, 7196–7204 (2016).
    • (2016) J. Virol. , vol.90 , pp. 7196-7204
    • Aydemir, F.1
  • 221
    • 0036140216 scopus 로고    scopus 로고
    • Cross-packaging of a single adeno-associated virus (AAV) type 2 vector genome into multiple AAV serotypes enables transduction with broad specificity
    • Rabinowitz, J. E. et al. Cross-packaging of a single adeno-associated virus (AAV) type 2 vector genome into multiple AAV serotypes enables transduction with broad specificity. J. Virol. 76, 791–801 (2002).
    • (2002) J. Virol. , vol.76 , pp. 791-801
    • Rabinowitz, J.E.1
  • 222
    • 0029849257 scopus 로고    scopus 로고
    • Quantitative analysis of the packaging capacity of recombinant adeno-associated virus
    • Dong, J. Y., Fan, P. D. & Frizzell, R. A. Quantitative analysis of the packaging capacity of recombinant adeno-associated virus. Hum. Gene Ther. 7, 2101–2112 (1996).
    • (1996) Hum. Gene Ther. , vol.7 , pp. 2101-2112
    • Dong, J.Y.1    Fan, P.D.2    Frizzell, R.A.3
  • 223
    • 74049085498 scopus 로고    scopus 로고
    • Effect of genome size on AAV vector packaging
    • Wu, Z., Yang, H. & Colosi, P. Effect of genome size on AAV vector packaging. Mol. Ther. 18, 80–86 (2010).
    • (2010) Mol. Ther. , vol.18 , pp. 80-86
    • Wu, Z.1    Yang, H.2    Colosi, P.3
  • 224
    • 0034030443 scopus 로고    scopus 로고
    • Nonrandom transduction of recombinant adeno-associated virus vectors in mouse hepatocytes in vivo: Cell cycling does not influence hepatocyte transduction
    • Miao, C. H. et al. Nonrandom transduction of recombinant adeno-associated virus vectors in mouse hepatocytes in vivo: cell cycling does not influence hepatocyte transduction. J. Virol. 74, 3793–3803 (2000).
    • (2000) J. Virol. , vol.74 , pp. 3793-3803
    • Miao, C.H.1
  • 225
    • 0033997905 scopus 로고    scopus 로고
    • Design and packaging of adeno-associated virus gene targeting vectors
    • Hirata, R. K. & Russell, D. W. Design and packaging of adeno-associated virus gene targeting vectors. J. Virol. 74, 4612–4620 (2000).
    • (2000) J. Virol. , vol.74 , pp. 4612-4620
    • Hirata, R.K.1    Russell, D.W.2
  • 226
    • 0346777307 scopus 로고    scopus 로고
    • Adeno-associated virus terminal repeat (TR) mutant generates self-complementary vectors to overcome the rate-limiting step to transduction in vivo
    • McCarty, D. M. et al. Adeno-associated virus terminal repeat (TR) mutant generates self-complementary vectors to overcome the rate-limiting step to transduction in vivo. Gene Ther. 10, 2112–2118 (2003).
    • (2003) Gene Ther , vol.10 , pp. 2112-2118
    • McCarty, D.M.1
  • 227
    • 79955597265 scopus 로고    scopus 로고
    • Long-term safety and efficacy following systemic administration of a self-complementary AAV vector encoding human FIX pseudotyped with serotype 5 and 8 capsid proteins
    • Nathwani, A. C. et al. Long-term safety and efficacy following systemic administration of a self-complementary AAV vector encoding human FIX pseudotyped with serotype 5 and 8 capsid proteins. Mol. Ther. 19, 876–885 (2011).
    • (2011) Mol. Ther. , vol.19 , pp. 876-885
    • Nathwani, A.C.1
  • 228
    • 77958471348 scopus 로고    scopus 로고
    • Qualitative imaging of adeno-associated virus serotype 2-human aromatic L-amino acid decarboxylase gene therapy in a phase I study for the treatment of Parkinson disease
    • Valles, F. et al. Qualitative imaging of adeno-associated virus serotype 2-human aromatic L-amino acid decarboxylase gene therapy in a phase I study for the treatment of Parkinson disease. Neurosurgery 67, 1377–1385 (2010).
    • (2010) Neurosurgery , vol.67 , pp. 1377-1385
    • Valles, F.1
  • 229
    • 84959272376 scopus 로고    scopus 로고
    • AAV viral vector delivery to the brain by shape-conforming MR-guided infusions
    • Bankiewicz, K. S. et al. AAV viral vector delivery to the brain by shape-conforming MR-guided infusions. J. Control. Release 240, 434–442 (2016).
    • (2016) J. Control. Release , vol.240 , pp. 434-442
    • Bankiewicz, K.S.1
  • 230
    • 85035794747 scopus 로고    scopus 로고
    • ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy
    • Shi, Y. et al. ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy. Nature 549, 523–527 (2017).
    • (2017) Nature , vol.549 , pp. 523-527
    • Shi, Y.1
  • 231
    • 85046476951 scopus 로고    scopus 로고
    • Targeting of nonlipidated, aggregated apoE with antibodies inhibits amyloid accumulation
    • Liao, F. et al. Targeting of nonlipidated, aggregated apoE with antibodies inhibits amyloid accumulation. J. Clin. Invest. 128, 2144–2155 (2018).
    • (2018) J. Clin. Invest. , vol.128 , pp. 2144-2155
    • Liao, F.1
  • 232
    • 12844273475 scopus 로고    scopus 로고
    • Gene delivery of human apolipoprotein E alters brain Abeta burden in a mouse model of Alzheimer’s disease
    • Dodart, J.-C. et al. Gene delivery of human apolipoprotein E alters brain Abeta burden in a mouse model of Alzheimer’s disease. Proc. Natl Acad. Sci. USA 102, 1211–1216 (2005).
    • (2005) Proc. Natl Acad. Sci. USA , vol.102 , pp. 1211-1216
    • Dodart, J.-.C.1
  • 233
    • 84985896386 scopus 로고    scopus 로고
    • The antibody aducanumab reduces Abeta plaques in Alzheimer’s disease
    • Sevigny, J. et al. The antibody aducanumab reduces Abeta plaques in Alzheimer’s disease. Nature 537, 50–56 (2016).
    • (2016) Nature , vol.537 , pp. 50-56
    • Sevigny, J.1
  • 234
    • 85046808882 scopus 로고    scopus 로고
    • Combination anti-Abeta treatment maximizes cognitive recovery and rebalances mTOR signaling in APP mice
    • Chiang, A. C. A. et al. Combination anti-Abeta treatment maximizes cognitive recovery and rebalances mTOR signaling in APP mice. J. Exp. Med. 215, 1349–1364 (2018).
    • (2018) J. Exp. Med. , vol.215 , pp. 1349-1364
    • Chiang, A.C.A.1
  • 235
    • 85042868121 scopus 로고    scopus 로고
    • Progranulin gene therapy improves lysosomal dysfunction and microglial pathology associated with frontotemporal dementia and neuronal ceroid lipofuscinosis
    • Arrant, A. E., Onyilo, V. C., Unger, D. E. & Roberson, E. D. Progranulin gene therapy improves lysosomal dysfunction and microglial pathology associated with frontotemporal dementia and neuronal ceroid lipofuscinosis. J. Neurosci. 38, 2341–2358 (2018).
    • (2018) J. Neurosci. , vol.38 , pp. 2341-2358
    • Arrant, A.E.1    Onyilo, V.C.2    Unger, D.E.3    Roberson, E.D.4
  • 236
    • 84976317472 scopus 로고    scopus 로고
    • Development of therapeutics for C9ORF72 ALS/FTD-related disorders
    • Mis, M. S. C. et al. Development of therapeutics for C9ORF72 ALS/FTD-related disorders. Mol. Neurobiol. 54, 4466–4476 (2017).
    • (2017) Mol. Neurobiol. , vol.54 , pp. 4466-4476
    • Mis, M.S.C.1
  • 237
    • 84955567365 scopus 로고    scopus 로고
    • Widespread central nervous system gene transfer and silencing after systemic delivery of novel AAV-AS vector
    • Choudhury, S. R. et al. Widespread central nervous system gene transfer and silencing after systemic delivery of novel AAV-AS vector. Mol. Ther. 24, 726–735 (2016).
    • (2016) Mol. Ther. , vol.24 , pp. 726-735
    • Choudhury, S.R.1
  • 238
    • 77956262279 scopus 로고    scopus 로고
    • A phase I study of aromatic L-amino acid decarboxylase gene therapy for Parkinson’s disease
    • Muramatsu, S. et al. A phase I study of aromatic L-amino acid decarboxylase gene therapy for Parkinson’s disease. Mol. Ther. 18, 1731–1735 (2010).
    • (2010) Mol. Ther. , vol.18 , pp. 1731-1735
    • Muramatsu, S.1
  • 239
    • 84947037583 scopus 로고    scopus 로고
    • Glucocerebrosidase gene therapy prevents alpha-synucleinopathy of midbrain dopamine neurons
    • Rocha, E. M. et al. Glucocerebrosidase gene therapy prevents alpha-synucleinopathy of midbrain dopamine neurons. Neurobiol. Dis. 82, 495–503 (2015).
    • (2015) Neurobiol. Dis. , vol.82 , pp. 495-503
    • Rocha, E.M.1
  • 240
    • 84866679781 scopus 로고    scopus 로고
    • Antibody-aided clearance of extracellular alpha-synuclein prevents cell-to-cell aggregate transmission
    • Bae, E. J. et al. Antibody-aided clearance of extracellular alpha-synuclein prevents cell-to-cell aggregate transmission. J. Neurosci. 32, 13454–13469 (2012).
    • (2012) J. Neurosci. , vol.32 , pp. 13454-13469
    • Bae, E.J.1
  • 241
    • 84976885213 scopus 로고    scopus 로고
    • Mechanism of anti-alpha-synuclein immunotherapy
    • Lee, J. S. & Lee, S. J. Mechanism of anti-alpha-synuclein immunotherapy. J. Mov. Disord. 9, 14–19 (2016).
    • (2016) J. Mov. Disord. , vol.9 , pp. 14-19
    • Lee, J.S.1    Lee, S.J.2
  • 242
    • 79957923807 scopus 로고    scopus 로고
    • An alpha-synuclein AAV gene silencing vector ameliorates a behavioral deficit in a rat model of Parkinson’s disease, but displays toxicity in dopamine neurons
    • Khodr, C. E. et al. An alpha-synuclein AAV gene silencing vector ameliorates a behavioral deficit in a rat model of Parkinson’s disease, but displays toxicity in dopamine neurons. Brain Res. 1395, 94–107 (2011).
    • (2011) Brain Res , vol.1395 , pp. 94-107
    • Khodr, C.E.1
  • 243
    • 84936818605 scopus 로고    scopus 로고
    • ShRNA targeting alpha-synuclein prevents neurodegeneration in a Parkinson’s disease model
    • Zharikov, A. D. et al. shRNA targeting alpha-synuclein prevents neurodegeneration in a Parkinson’s disease model. J. Clin. Invest. 125, 2721–2735 (2015).
    • (2015) J. Clin. Invest. , vol.125 , pp. 2721-2735
    • Zharikov, A.D.1
  • 244
    • 84964314523 scopus 로고    scopus 로고
    • Nonallele specific silencing of ataxin-7 improves disease phenotypes in a mouse model of SCA7
    • Ramachandran, P. S., Boudreau, R. L., Schaefer, K. A., La Spada, A. R. & Davidson, B. L. Nonallele specific silencing of ataxin-7 improves disease phenotypes in a mouse model of SCA7. Mol. Ther. 22, 1635–1642 (2014).
    • (2014) Mol. Ther. , vol.22 , pp. 1635-1642
    • Ramachandran, P.S.1    Boudreau, R.L.2    Schaefer, K.A.3    la Spada, A.R.4    Davidson, B.L.5
  • 245
    • 85021066962 scopus 로고    scopus 로고
    • A new AAV10-U7-mediated gene therapy prolongs survival and restores function in an ALS mouse model
    • Biferi, M. G. et al. A new AAV10-U7-mediated gene therapy prolongs survival and restores function in an ALS mouse model. Mol. Ther. 25, 2038–2052 (2017).
    • (2017) Mol. Ther. , vol.25 , pp. 2038-2052
    • Biferi, M.G.1
  • 246
    • 79551641133 scopus 로고    scopus 로고
    • Neuroprotection by gene therapy targeting mutant SOD1 in individual pools of motor neurons does not translate into therapeutic benefit in fALS mice
    • Towne, C., Setola, V., Schneider, B. L. & Aebischer, P. Neuroprotection by gene therapy targeting mutant SOD1 in individual pools of motor neurons does not translate into therapeutic benefit in fALS mice. Mol. Ther. 19, 274–283 (2011).
    • (2011) Mol. Ther. , vol.19 , pp. 274-283
    • Towne, C.1    Setola, V.2    Schneider, B.L.3    Aebischer, P.4
  • 247
    • 84892474913 scopus 로고    scopus 로고
    • Widespread spinal cord transduction by intrathecal injection of rAAV delivers efficacious RNAi therapy for amyotrophic lateral sclerosis
    • Wang, H. et al. Widespread spinal cord transduction by intrathecal injection of rAAV delivers efficacious RNAi therapy for amyotrophic lateral sclerosis. Hum. Mol. Genet. 23, 668–681 (2014).
    • (2014) Hum. Mol. Genet. , vol.23 , pp. 668-681
    • Wang, H.1
  • 248
    • 84940006774 scopus 로고    scopus 로고
    • TDP-43 proteinopathy and ALS: Insights into disease mechanisms and therapeutic targets
    • Scotter, E. L., Chen, H. J. & Shaw, C. E. TDP-43 proteinopathy and ALS: insights into disease mechanisms and therapeutic targets. Neurotherapeutics 12, 352–363 (2015).
    • (2015) Neurotherapeutics , vol.12 , pp. 352-363
    • Scotter, E.L.1    Chen, H.J.2    Shaw, C.E.3
  • 249
    • 84991798519 scopus 로고    scopus 로고
    • ShRNA mediated knockdown of Nav1.7 in rat dorsal root ganglion attenuates pain following burn injury
    • Cai, W. et al. shRNA mediated knockdown of Nav1.7 in rat dorsal root ganglion attenuates pain following burn injury. BMC Anesthesiol. 16, 59 (2016).
    • (2016) BMC Anesthesiol , vol.16 , Issue.59
    • Cai, W.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.