메뉴 건너뛰기




Volumn 3, Issue 3, 2013, Pages 144-176

Antisense therapy in neurology

Author keywords

Amyotrophic lateral sclerosis (ALS); Antisense therapy; Distal myopathy with anterior tibial onset (DMAT); Duchenne muscular dystrophy (DMD); Fukuyama congenital muscular dystrophy (FCMD); Huntington's disease (HD); Limb girdle muscular dystrophy 2B (LGMD2B); Miyoshi myopathy (MM); Myotonic dystrophy (DM); Spinal muscular atrophy (SMA)

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; COPPER ZINC SUPEROXIDE DISMUTASE; DRISAPERSEN; DYSFERLIN; ETEPLIRSEN; FOMIVIRSEN; ISIS 333611; ISIS SMNRX; LOCKED NUCLEIC ACID; MIPOMERSEN; MORPHOLINO OLIGONUCLEOTIDE; MYOTONIC DYSTROPHY PROTEIN KINASE; NCNP 01; NS 065; PRO135; PRO289; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; UNCLASSIFIED DRUG;

EID: 84893552611     PISSN: None     EISSN: 20754426     Source Type: Journal    
DOI: 10.3390/jpm3030144     Document Type: Review
Times cited : (59)

References (253)
  • 1
    • 33746224027 scopus 로고    scopus 로고
    • Applying nonsense-mediated mRNA decay research to the clinic: Progress and challenges
    • Kuzmiak, H.A.; Maquat, L.E. Applying nonsense-mediated mRNA decay research to the clinic: Progress and challenges. Trends Mol. Med. 2006, 12, 306-316.
    • (2006) Trends Mol. Med , vol.12 , pp. 306-316
    • Kuzmiak, H.A.1    Maquat, L.E.2
  • 2
    • 0028220670 scopus 로고
    • Inhibition of endothelial cell adhesion molecule expression with antisense oligonucleotides
    • Bennett, C.F.; Condon, T.P.; Grimm, S.; Chan, H.; Chiang, M.Y. Inhibition of endothelial cell adhesion molecule expression with antisense oligonucleotides. J. Immunol. 1994, 152, 3530-3540.
    • (1994) J. Immunol , vol.152 , pp. 3530-3540
    • Bennett, C.F.1    Condon, T.P.2    Grimm, S.3    Chan, H.4    Chiang, M.Y.5
  • 3
    • 84877244539 scopus 로고    scopus 로고
    • Biotechcomestoitsantisensesafterhard-won drug approval
    • 10.1038/nm0313-252
    • Jiang, K. Biotechcomestoitsantisensesafterhard-won drug approval. Nat. Med. 2013, 19, doi:10.1038/nm0313-252.
    • (2013) Nat. Med , vol.19
    • Jiang, K.1
  • 4
    • 33646950391 scopus 로고    scopus 로고
    • Evaluation of cell-penetrating peptides (CPPs) as vehicles for intracellular delivery of antisense peptide nucleic acid (PNA)
    • Bendifallah, N.; Rasmussen, F.W.; Zachar, V.; Ebbesen, P.; Nielsen, P.E.; Koppelhus, U. Evaluation of cell-penetrating peptides (CPPs) as vehicles for intracellular delivery of antisense peptide nucleic acid (PNA). Bioconjug. Chem. 2006, 17, 750-758.
    • (2006) Bioconjug. Chem , vol.17 , pp. 750-758
    • Bendifallah, N.1    Rasmussen, F.W.2    Zachar, V.3    Ebbesen, P.4    Nielsen, P.E.5    Koppelhus, U.6
  • 5
    • 0017342771 scopus 로고
    • Effects of a trinucleotide ethyl phosphotriester, Gmp(Et)Gmp(Et)U, on mammalian cells in culture
    • Miller, P.S.; Braiterman, L.T.; Ts'o, P.O. Effects of a trinucleotide ethyl phosphotriester, Gmp(Et)Gmp(Et)U, on mammalian cells in culture. Biochemistry 1977, 16, 1988-1996.
    • (1977) Biochemistry , vol.16 , pp. 1988-1996
    • Miller, P.S.1    Braiterman, L.T.2    Ts'O, P.O.3
  • 6
    • 80053301462 scopus 로고    scopus 로고
    • Improved cellular uptake of antisense peptide nucleic acids by conjugation to a cell-penetrating peptide and a lipid domain
    • Shiraishi, T.; Nielsen, P.E. Improved cellular uptake of antisense peptide nucleic acids by conjugation to a cell-penetrating peptide and a lipid domain. Methods Mol. Biol. 2011, 751, 209-221.
    • (2011) Methods Mol. Biol , vol.751 , pp. 209-221
    • Shiraishi, T.1    Nielsen, P.E.2
  • 7
    • 33748126226 scopus 로고    scopus 로고
    • Recent approaches to intracellular delivery of drugs and DNA and organelle targeting
    • Torchilin, V.P. Recent approaches to intracellular delivery of drugs and DNA and organelle targeting. Annu. Rev. Biomed. Eng. 2006, 8, 343-375.
    • (2006) Annu. Rev. Biomed. Eng , vol.8 , pp. 343-375
    • Torchilin, V.P.1
  • 8
    • 53249130741 scopus 로고    scopus 로고
    • Therapeutic application of histone deacetylase inhibitors for central nervous system disorders
    • Kazantsev, A.G.; Thompson, L.M. Therapeutic application of histone deacetylase inhibitors for central nervous system disorders. Nat. Rev. Drug Discov. 2008, 7, 854-868.
    • (2008) Nat. Rev. Drug Discov , vol.7 , pp. 854-868
    • Kazantsev, A.G.1    Thompson, L.M.2
  • 9
    • 79960981599 scopus 로고    scopus 로고
    • Targeting RNA to treat neuromuscular disease
    • Muntoni, F.; Wood, M.J. Targeting RNA to treat neuromuscular disease. Nat. Rev. Drug Discov. 2011, 10, 621-637.
    • (2011) Nat. Rev. Drug Discov , vol.10 , pp. 621-637
    • Muntoni, F.1    Wood, M.J.2
  • 10
    • 5444262511 scopus 로고    scopus 로고
    • Toll-like receptor control of the adaptive immune responses
    • Iwasaki, A.; Medzhitov, R. Toll-like receptor control of the adaptive immune responses. Nat. Immunol. 2004, 5, 987-995.
    • (2004) Nat. Immunol , vol.5 , pp. 987-995
    • Iwasaki, A.1    Medzhitov, R.2
  • 11
    • 80052513011 scopus 로고    scopus 로고
    • Restoring dystrophin expression in Duchenne muscular dystrophy muscle progress in exon skipping and stop codon read through
    • Hoffman, E.P.; Bronson, A.; Levin, A.A.; Takeda, S.; Yokota, T.; Baudy, A.R.; Connor, E.M. Restoring dystrophin expression in Duchenne muscular dystrophy muscle progress in exon skipping and stop codon read through. Am. J. Pathol. 2011, 179, 12-22.
    • (2011) Am. J. Pathol , vol.179 , pp. 12-22
    • Hoffman, E.P.1    Bronson, A.2    Levin, A.A.3    Takeda, S.4    Yokota, T.5    Baudy, A.R.6    Connor, E.M.7
  • 12
    • 67249122712 scopus 로고    scopus 로고
    • Biological barriers to therapy with antisense and siRNA oligonucleotides
    • Juliano, R.; Bauman, J.; Kang, H.; Ming, X. Biological barriers to therapy with antisense and siRNA oligonucleotides. Mol. Pharm. 2009, 6, 686-695.
    • (2009) Mol. Pharm , vol.6 , pp. 686-695
    • Juliano, R.1    Bauman, J.2    Kang, H.3    Ming, X.4
  • 13
    • 66649109864 scopus 로고    scopus 로고
    • Distribution and stability of antisense phosphorothioate oligonucleotides in rodent brain following direct intraparenchymal controlled-rate infusion
    • Broaddus, W.C.; Prabhu, S.S.; Gillies, G.T.; Neal, J.; Conrad, W.S.; Chen, Z.J.; Fillmore, H.; Young, H.F. Distribution and stability of antisense phosphorothioate oligonucleotides in rodent brain following direct intraparenchymal controlled-rate infusion. Neurosurg. Focus 1997, 3, e6.
    • (1997) Neurosurg. Focus , vol.3
    • Broaddus, W.C.1    Prabhu, S.S.2    Gillies, G.T.3    Neal, J.4    Conrad, W.S.5    Chen, Z.J.6    Fillmore, H.7    Young, H.F.8
  • 22
    • 63449133262 scopus 로고    scopus 로고
    • Gene knockdowns in adult animals: PPMOs and vivo-morpholinos
    • Moulton, J.D.; Jiang, S. Gene knockdowns in adult animals: PPMOs and vivo-morpholinos. Molecules 2009, 14, 1304-1323.
    • (2009) Molecules , vol.14 , pp. 1304-1323
    • Moulton, J.D.1    Jiang, S.2
  • 23
    • 79960695660 scopus 로고    scopus 로고
    • Repeat-dose toxicology evaluation in cynomolgus monkeys of AVI-4658, a phosphorodiamidate morpholino oligomer (PMO) drug for the treatment of duchenne muscular dystrophy
    • Sazani, P.; Ness, K.P.; Weller, D.L.; Poage, D.W.; Palyada, K.; Shrewsbury, S.B. Repeat-dose toxicology evaluation in cynomolgus monkeys of AVI-4658, a phosphorodiamidate morpholino oligomer (PMO) drug for the treatment of duchenne muscular dystrophy. Int. J. Toxicol. 2011, 30, 313-321.
    • (2011) Int. J. Toxicol , vol.30 , pp. 313-321
    • Sazani, P.1    Ness, K.P.2    Weller, D.L.3    Poage, D.W.4    Palyada, K.5    Shrewsbury, S.B.6
  • 24
    • 0029791763 scopus 로고    scopus 로고
    • Second-generation antisense oligonucleotides: Structure-activity relationships and the design of improved signal-transduction inhibitors
    • Altmann, K.H.; Fabbro, D.; Dean, N.M.; Geiger, T.; Monia, B.P.; Muller, M.; Nicklin, P. Second-generation antisense oligonucleotides: Structure-activity relationships and the design of improved signal-transduction inhibitors. Biochem. Soc. Trans. 1996, 24, 630-637.
    • (1996) Biochem. Soc. Trans , vol.24 , pp. 630-637
    • Altmann, K.H.1    Fabbro, D.2    Dean, N.M.3    Geiger, T.4    Monia, B.P.5    Muller, M.6    Nicklin, P.7
  • 26
    • 34247586674 scopus 로고    scopus 로고
    • 2'-Modified oligonucleotides for antisense therapeutics
    • Prakash, T.P.; Bhat, B. 2'-Modified oligonucleotides for antisense therapeutics. Curr. Top. Med. Chem. 2007, 7, 641-649.
    • (2007) Curr. Top. Med. Chem , vol.7 , pp. 641-649
    • Prakash, T.P.1    Bhat, B.2
  • 31
    • 57049102809 scopus 로고    scopus 로고
    • Cell-penetrating peptide-conjugated antisense oligonucleotides restore systemic muscle and cardiac dystrophin expression and function
    • Yin, H.; Moulton, H.M.; Seow, Y.; Boyd, C.; Boutilier, J.; Iverson, P.; Wood, M.J. Cell-penetrating peptide-conjugated antisense oligonucleotides restore systemic muscle and cardiac dystrophin expression and function. Hum. Mol. Genet. 2008, 17, 3909-3918.
    • (2008) Hum. Mol. Genet , vol.17 , pp. 3909-3918
    • Yin, H.1    Moulton, H.M.2    Seow, Y.3    Boyd, C.4    Boutilier, J.5    Iverson, P.6    Wood, M.J.7
  • 32
    • 79959995255 scopus 로고    scopus 로고
    • Pip5 transduction peptides direct high efficiency oligonucleotidemediated dystrophin exon skipping in heart and phenotypic correction in mdx mice
    • Yin, H.; Saleh, A.F.; Betts, C.; Camelliti, P.; Seow, Y.; Ashraf, S.; Arzumanov, A.; Hammond, S.; Merritt, T.; Gait, M.J.; et al. Pip5 transduction peptides direct high efficiency oligonucleotidemediated dystrophin exon skipping in heart and phenotypic correction in mdx mice. Mol. Ther. 2011, 19, 1295-1303.
    • (2011) Mol. Ther , vol.19 , pp. 1295-1303
    • Yin, H.1    Saleh, A.F.2    Betts, C.3    Camelliti, P.4    Seow, Y.5    Ashraf, S.6    Arzumanov, A.7    Hammond, S.8    Merritt, T.9    Gait, M.J.10
  • 33
    • 70350697818 scopus 로고    scopus 로고
    • A fusion peptide directs enhanced systemic dystrophin exon skipping and functional restoration in dystrophin-deficient mdx mice
    • Yin, H.; Moulton, H.M.; Betts, C.; Seow, Y.; Boutilier, J.; Iverson, P.L.; Wood, M.J. A fusion peptide directs enhanced systemic dystrophin exon skipping and functional restoration in dystrophin-deficient mdx mice. Hum. Mol. Genet. 2009, 18, 4405-4414.
    • (2009) Hum. Mol. Genet , vol.18 , pp. 4405-4414
    • Yin, H.1    Moulton, H.M.2    Betts, C.3    Seow, Y.4    Boutilier, J.5    Iverson, P.L.6    Wood, M.J.7
  • 34
    • 79952198357 scopus 로고    scopus 로고
    • CPP-directed oligonucleotide exon skipping in animal models of Duchenne muscular dystrophy
    • Yin, H.; Moulton, H.; Betts, C.; Wood, M. CPP-directed oligonucleotide exon skipping in animal models of Duchenne muscular dystrophy. Methods Mol. Biol. 2011, 683, 321-338.
    • (2011) Methods Mol. Biol , vol.683 , pp. 321-338
    • Yin, H.1    Moulton, H.2    Betts, C.3    Wood, M.4
  • 35
    • 37549022222 scopus 로고    scopus 로고
    • Effective exon skipping and restoration of dystrophin expression by peptide nucleic acid antisense oligonucleotides in mdx mice
    • Yin, H.; Lu, Q.; Wood, M. Effective exon skipping and restoration of dystrophin expression by peptide nucleic acid antisense oligonucleotides in mdx mice. Mol. Ther. 2008, 16, 38-45.
    • (2008) Mol. Ther , vol.16 , pp. 38-45
    • Yin, H.1    Lu, Q.2    Wood, M.3
  • 36
    • 77950518145 scopus 로고    scopus 로고
    • Optimization of peptide nucleic acid antisense oligonucleotides for local and systemic dystrophin splice correction in the mdx mouse
    • Yin, H.; Betts, C.; Saleh, A.F.; Ivanova, G.D.; Lee, H.; Seow, Y.; Kim, D.; Gait, M.J.; Wood, M.J. Optimization of peptide nucleic acid antisense oligonucleotides for local and systemic dystrophin splice correction in the mdx mouse. Mol. Ther. 2010, 18, 819-827.
    • (2010) Mouse. Mol. Ther , vol.18 , pp. 819-827
    • Yin, H.1    Betts, C.2    Saleh, A.F.3    Ivanova, G.D.4    Lee, H.5    Seow, Y.6    Kim, D.7    Gait, M.J.8    Wood, M.J.9
  • 39
    • 33746334153 scopus 로고    scopus 로고
    • Promising nucleic acid analogs and mimics: Characteristic features and applications of PNA, LNA, and morpholino
    • Karkare, S.; Bhatnagar, D. Promising nucleic acid analogs and mimics: Characteristic features and applications of PNA, LNA, and morpholino. Appl. Microbiol. Biotechnol. 2006, 71, 575-586.
    • (2006) Appl. Microbiol. Biotechnol , vol.71 , pp. 575-586
    • Karkare, S.1    Bhatnagar, D.2
  • 40
    • 56649113066 scopus 로고    scopus 로고
    • Improved cell-penetrating peptide-PNA conjugates for splicing redirection in HeLa cells and exon skipping in mdx mouse muscle
    • Ivanova, G.D.; Arzumanov, A.; Abes, R.; Yin, H.; Wood, M.J.; Lebleu, B.; Gait, M.J. Improved cell-penetrating peptide-PNA conjugates for splicing redirection in HeLa cells and exon skipping in mdx mouse muscle. Nucleic Acids Res.2008, 36, 6418-6428.
    • (2008) Nucleic Acids Res , vol.36 , pp. 6418-6428
    • Ivanova, G.D.1    Arzumanov, A.2    Abes, R.3    Yin, H.4    Wood, M.J.5    Lebleu, B.6    Gait, M.J.7
  • 41
    • 44249093742 scopus 로고    scopus 로고
    • Locked nucleic acids: Synthesis and characterization of LNA-T diol
    • 10.1002/0471142700.nc0412s08
    • Pfundheller, H.M.; Lomholt, C. Locked nucleic acids: Synthesis and characterization of LNA-T diol. Curr. Protoc. Nucleic Acid Chem. 2002, doi: 10.1002/0471142700.nc0412s08
    • (2002) Curr. Protoc. Nucleic Acid Chem
    • Pfundheller, H.M.1    Lomholt, C.2
  • 42
    • 0000484783 scopus 로고    scopus 로고
    • Synthesis of Novel Bicyclo [2.2.1] Ribonucleosides: 2'-Amino- and 2'-Thio-LNA Monomeric Nucleosides
    • Singh, S.K.; Kumar, R.; Wengel, J. Synthesis of Novel Bicyclo [2.2.1] Ribonucleosides: 2'-Amino- and 2'-Thio-LNA Monomeric Nucleosides. J. Org. Chem. 1998, 63, 6078-6079.
    • (1998) J. Org. Chem , vol.63 , pp. 6078-6079
    • Singh, S.K.1    Kumar, R.2    Wengel, J.3
  • 43
    • 2442496406 scopus 로고    scopus 로고
    • Sequence-dependent thermodynamic parameters for locked nucleic acid (LNA)-DNA duplex formation
    • McTigue, P.M.; Peterson, R.J.; Kahn, J.D. Sequence-dependent thermodynamic parameters for locked nucleic acid (LNA)-DNA duplex formation. Biochemistry 2004, 43, 5388-5405.
    • (2004) Biochemistry , vol.43 , pp. 5388-5405
    • McTigue, P.M.1    Peterson, R.J.2    Kahn, J.D.3
  • 45
    • 0042121058 scopus 로고    scopus 로고
    • Oligo Design: Optimal design of LNA (locked nucleic acid) oligonucleotide capture probes for gene expression profiling
    • Tolstrup, N.; Nielsen, P.S.; Kolberg, J.G.; Frankel, A.M.; Vissing, H.; Kauppinen, S. Oligo Design: Optimal design of LNA (locked nucleic acid) oligonucleotide capture probes for gene expression profiling. Nucleic Acids Res.2003, 31, 3758-3762.
    • (2003) Nucleic Acids Res , vol.31 , pp. 3758-3762
    • Tolstrup, N.1    Nielsen, P.S.2    Kolberg, J.G.3    Frankel, A.M.4    Vissing, H.5    Kauppinen, S.6
  • 46
    • 2342520656 scopus 로고    scopus 로고
    • Locked nucleic acid (LNA) single nucleotide polymorphism (SNP) genotype analysis and validation using real-time PCR
    • Johnson, M.P.; Haupt, L.M.; Griffiths, L.R. Locked nucleic acid (LNA) single nucleotide polymorphism (SNP) genotype analysis and validation using real-time PCR. Nucleic Acids Res. 2004, 32, e55.
    • (2004) Nucleic Acids Res , vol.32
    • Johnson, M.P.1    Haupt, L.M.2    Griffiths, L.R.3
  • 47
    • 0038723184 scopus 로고    scopus 로고
    • Enhanced allele-specific PCR discrimination in SNP genotyping using 3' locked nucleic acid (LNA) primers
    • Latorra, D.; Campbell, K.; Wolter, A.; Hurley, J.M. Enhanced allele-specific PCR discrimination in SNP genotyping using 3' locked nucleic acid (LNA) primers. Hum. Mutat. 2003, 22, 79-85.
    • (2003) Hum. Mutat , vol.22 , pp. 79-85
    • Latorra, D.1    Campbell, K.2    Wolter, A.3    Hurley, J.M.4
  • 48
    • 0036730530 scopus 로고    scopus 로고
    • Single nucleotide polymorphism genotyping using short, fluorescently labeled locked nucleic acid (LNA) probes and fluorescence polarization detection
    • Simeonov, A.; Nikiforov, T.T. Single nucleotide polymorphism genotyping using short, fluorescently labeled locked nucleic acid (LNA) probes and fluorescence polarization detection. Nucleic Acids Res.2002, 30, e91.
    • (2002) Nucleic Acids Res , vol.30
    • Simeonov, A.1    Nikiforov, T.T.2
  • 49
    • 0037310844 scopus 로고    scopus 로고
    • LNA: A versatile tool for therapeutics and genomics
    • Petersen, M.; Wengel, J. LNA: A versatile tool for therapeutics and genomics. Trends Biotechnol. 2003, 21, 74-81.
    • (2003) Trends Biotechnol , vol.21 , pp. 74-81
    • Petersen, M.1    Wengel, J.2
  • 50
    • 0026594622 scopus 로고
    • The synthesis and antineoplastic activity of 2'-deoxy-nucleoside-cyanoboranes in murine and human culture cells
    • Sood, A.; Spielvogel, B.F.; Shaw, B.R.; Carlton, L.D.; Burnham, B.S.; Hall, E.S.; Hall, I.H. The synthesis and antineoplastic activity of 2'-deoxy-nucleoside-cyanoboranes in murine and human culture cells. Anticancer Res. 1992, 12, 335-343.
    • (1992) Anticancer Res , vol.12 , pp. 335-343
    • Sood, A.1    Spielvogel, B.F.2    Shaw, B.R.3    Carlton, L.D.4    Burnham, B.S.5    Hall, E.S.6    Hall, I.H.7
  • 51
    • 0032995076 scopus 로고    scopus 로고
    • Boranophosphates support the RNase H cleavage of polyribonucleotides
    • Rait, V.K.; Shaw, B.R. Boranophosphates support the RNase H cleavage of polyribonucleotides. Antisense Nucleic Acid Drug Dev. 1999, 9, 53-60.
    • (1999) Antisense Nucleic Acid Drug Dev , vol.9 , pp. 53-60
    • Rait, V.K.1    Shaw, B.R.2
  • 53
    • 0037071921 scopus 로고    scopus 로고
    • Synthesis of prodrug candidates: Conjugates of amino acid with nucleoside boranophosphate
    • Li, P.; Shaw, B.R. Synthesis of prodrug candidates: Conjugates of amino acid with nucleoside boranophosphate. Org. Lett. 2002, 4, 2009-2012.
    • (2002) Org. Lett , vol.4 , pp. 2009-2012
    • Li, P.1    Shaw, B.R.2
  • 55
    • 0033990454 scopus 로고    scopus 로고
    • Boranophosphate backbone: A mimic of phosphodiesters, phosphorothioates, and methyl phosphonates
    • Shaw, B.R.; Sergueev, D.; He, K.; Porter, K.; Summers, J.; Sergueeva, Z.; Rait, V. Boranophosphate backbone: A mimic of phosphodiesters, phosphorothioates, and methyl phosphonates. Meth. Enzymol. 2000, 313, 226-257.
    • (2000) Meth. Enzymol , vol.313 , pp. 226-257
    • Shaw, B.R.1    Sergueev, D.2    He, K.3    Porter, K.4    Summers, J.5    Sergueeva, Z.6    Rait, V.7
  • 57
    • 33745318259 scopus 로고    scopus 로고
    • Rationally targeted, conformationally constrained, oxetane-modified oligonucleotides demonstrate efficient gene-silencing activity in a cellular system
    • Opalinska, J.B.; Gewirtz, A.M. Rationally targeted, conformationally constrained, oxetane-modified oligonucleotides demonstrate efficient gene-silencing activity in a cellular system. Ann. N. Y. Acad. Sci. 2005, 1058, 39-51.
    • (2005) Ann. N. Y. Acad. Sci , vol.1058 , pp. 39-51
    • Opalinska, J.B.1    Gewirtz, A.M.2
  • 58
    • 82955237522 scopus 로고    scopus 로고
    • Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene/allele-specific silencing of mutant huntingtin
    • Carroll, J.B.; Warby, S.C.; Southwell, A.L.; Doty, C.N.; Greenlee, S.; Skotte, N.; Hung, G.; Bennett, C.F.; Freier, S.M.; Hayden, M.R. Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene/allele-specific silencing of mutant huntingtin. Mol. Ther. 2011, 19, 2178-2185.
    • (2011) Mol. Ther , vol.19 , pp. 2178-2185
    • Carroll, J.B.1    Warby, S.C.2    Southwell, A.L.3    Doty, C.N.4    Greenlee, S.5    Skotte, N.6    Hung, G.7    Bennett, C.F.8    Freier, S.M.9    Hayden, M.R.10
  • 59
    • 80455158257 scopus 로고    scopus 로고
    • Expression and role of fibroblast activation protein-alpha in microinvasive breast carcinoma
    • Hua, X.; Yu, L.; Huang, X.; Liao, Z.; Xian, Q. Expression and role of fibroblast activation protein-alpha in microinvasive breast carcinoma. Diagn. Pathol. 2011, 6, e111.
    • (2011) Diagn. Pathol , vol.6
    • Hua, X.1    Yu, L.2    Huang, X.3    Liao, Z.4    Xian, Q.5
  • 60
    • 84876466100 scopus 로고    scopus 로고
    • An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: A phase 1, randomised, first-in-man study
    • Miller, T.M.; Pestronk, A.; David, W.; Rothstein, J.; Simpson, E.; Appel, S.H.; Andres, P.L.; Mahoney, K.; Allred, P.; Alexander, K.; et al. An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: A phase 1, randomised, first-in-man study. Lancet Neurol. 2013, 12, 435-442.
    • (2013) Lancet Neurol , vol.12 , pp. 435-442
    • Miller, T.M.1    Pestronk, A.2    David, W.3    Rothstein, J.4    Simpson, E.5    Appel, S.H.6    Andres, P.L.7    Mahoney, K.8    Allred, P.9    Alexander, K.10
  • 61
    • 79551530731 scopus 로고    scopus 로고
    • Oligonucleotide therapeutic approaches for Huntington disease
    • Sah, D.W.; Aronin, N. Oligonucleotide therapeutic approaches for Huntington disease. J. Clin. Invest. 2011, 121, 500-507.
    • (2011) J. Clin. Invest , vol.121 , pp. 500-507
    • Sah, D.W.1    Aronin, N.2
  • 63
    • 84903807831 scopus 로고    scopus 로고
    • Efficient nuclear delivery and nuclear body localization of antisense oligo-nucleotides using degradable polymersomes
    • EMBS'06. 28th Annual International Conference of the IEEE, New York, NY, USA, 30 August-3 September 2006
    • Kim, Y.; Tewari, M.; Pajeroski, D.J.; Sen, S.; Jason, W.; Sirsi, S.; Lutz, G.; Discher, D.E. Efficient nuclear delivery and nuclear body localization of antisense oligo-nucleotides using degradable polymersomes. In Proceedings of the Engineering in Medicine and Biology Society, 2006. EMBS'06. 28th Annual International Conference of the IEEE, New York, NY, USA, 30 August-3 September 2006; pp. 4350-4353.
    • (2006) In Proceedings of the Engineering in Medicine and Biology Society , pp. 4350-4353
    • Kim, Y.1    Tewari, M.2    Pajeroski, D.J.3    Sen, S.4    Jason, W.5    Sirsi, S.6    Lutz, G.7    Discher, D.E.8
  • 64
    • 37549049805 scopus 로고    scopus 로고
    • Skipping toward personalized molecular medicine
    • Hoffman, E.P. Skipping toward personalized molecular medicine. N. Engl. J. Med. 2007, 357, 2719-2722.
    • (2007) N. Engl. J. Med , vol.357 , pp. 2719-2722
    • Hoffman, E.P.1
  • 65
    • 34250773365 scopus 로고    scopus 로고
    • Potential of oligonucleotide-mediated exon-skipping therapy for Duchenne muscular dystrophy
    • Yokota, T.; Pistilli, E.; Duddy, W.; Nagaraju, K. Potential of oligonucleotide-mediated exon-skipping therapy for Duchenne muscular dystrophy. Expert Opin. Biol. Ther. 2007, 7, 831-842.
    • (2007) Expert Opin. Biol. Ther , vol.7 , pp. 831-842
    • Yokota, T.1    Pistilli, E.2    Duddy, W.3    Nagaraju, K.4
  • 66
    • 84865313416 scopus 로고    scopus 로고
    • Exon skipping for nonsense mutations in Duchenne muscular dystrophy: Too many mutations, too few patients?
    • Yokota, T.; Duddy, W.; Echigoya, Y.; Kolski, H. Exon skipping for nonsense mutations in Duchenne muscular dystrophy: Too many mutations, too few patients? Expert Opin. Biol. Ther. 2012, 12, 1141-1152.
    • (2012) Expert Opin. Biol. Ther , vol.12 , pp. 1141-1152
    • Yokota, T.1    Duddy, W.2    Echigoya, Y.3    Kolski, H.4
  • 67
    • 80052213474 scopus 로고    scopus 로고
    • Long-term systemic administration of unconjugated morpholino oligomers for therapeutic expression of dystrophin by exon skipping in skeletal muscle: Implications for cardiac muscle integrity
    • Malerba, A.; Boldrin, L.; Dickson, G. Long-term systemic administration of unconjugated morpholino oligomers for therapeutic expression of dystrophin by exon skipping in skeletal muscle: Implications for cardiac muscle integrity. Nucleic Acid Ther. 2011, 21, 293-298.
    • (2011) Nucleic Acid Ther , vol.21 , pp. 293-298
    • Malerba, A.1    Boldrin, L.2    Dickson, G.3
  • 68
    • 53049100021 scopus 로고    scopus 로고
    • Myotonic dystrophy: Therapeutic strategies for the future
    • Wheeler, T.M. Myotonic dystrophy: Therapeutic strategies for the future. Neurotherapeutics 2008, 5, 592-600.
    • (2008) Neurotherapeutics , vol.5 , pp. 592-600
    • Wheeler, T.M.1
  • 69
    • 34247388843 scopus 로고    scopus 로고
    • Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon
    • Hua, Y.; Vickers, T.A.; Baker, B.F.; Bennett, C.F.; Krainer, A.R. Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon. PLoS Biol. 2007, 5, e73.
    • (2007) PLoS Biol , vol.5
    • Hua, Y.1    Vickers, T.A.2    Baker, B.F.3    Bennett, C.F.4    Krainer, A.R.5
  • 71
    • 80052668013 scopus 로고
    • The pathology of paralysis with muscular degeneration (paralysie myosclerotique), or paralysis with apparent hypertrophy
    • Duchenne, G.B. The pathology of paralysis with muscular degeneration (paralysie myosclerotique), or paralysis with apparent hypertrophy. Br. Med. J. 1867, 2, 541-542.
    • (1867) Br. Med. J , vol.2 , pp. 541-542
    • Duchenne, G.B.1
  • 72
    • 0023614188 scopus 로고
    • Dystrophin: The protein product of the Duchenne muscular dystrophy locus
    • Hoffman, E.P.; Brown, R.H., Jr.; Kunkel, L.M. Dystrophin: The protein product of the Duchenne muscular dystrophy locus. Cell 1987, 51, 919-928.
    • (1987) Cell , vol.51 , pp. 919-928
    • Hoffman, E.P.1    Brown Jr., R.H.2    Kunkel, L.M.3
  • 73
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    • Koenig, M.; Hoffman, E.P.; Bertelson, C.J.; Monaco, A.P.; Feener, C.; Kunkel, L.M. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987, 50, 509-517.
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Hoffman, E.P.2    Bertelson, C.J.3    Monaco, A.P.4    Feener, C.5    Kunkel, L.M.6
  • 74
    • 78650916689 scopus 로고    scopus 로고
    • The status of exon skipping as a therapeutic approach to Duchenne muscular dystrophy
    • Lu, Q.L.; Yokota, T.; Takeda, S.; Garcia, L.; Muntoni, F.; Partridge, T. The status of exon skipping as a therapeutic approach to Duchenne muscular dystrophy. Mol. Ther. 2011, 19, 9-15.
    • (2011) Mol. Ther , vol.19 , pp. 9-15
    • Lu, Q.L.1    Yokota, T.2    Takeda, S.3    Garcia, L.4    Muntoni, F.5    Partridge, T.6
  • 75
    • 77957322170 scopus 로고    scopus 로고
    • Antisense-mediated modulation of splicing: Therapeutic implications for Duchenne muscular dystrophy
    • Aartsma-Rus, A. Antisense-mediated modulation of splicing: Therapeutic implications for Duchenne muscular dystrophy. RNA Biol. 2010, 7, 453-461.
    • (2010) RNA Biol , vol.7 , pp. 453-461
    • Aartsma-Rus, A.1
  • 76
    • 43449113543 scopus 로고    scopus 로고
    • Optimizing exon skipping therapies for DMD
    • Yokota, T.; Duddy, W.; Partridge, T. Optimizing exon skipping therapies for DMD. Acta Myol. 2007, 26, 179-184.
    • (2007) Acta Myol , vol.26 , pp. 179-184
    • Yokota, T.1    Duddy, W.2    Partridge, T.3
  • 77
    • 33746899641 scopus 로고    scopus 로고
    • Expansion of revertant fibers in dystrophic mdx muscles reflects activity of muscle precursor cells and serves as an index of muscle regeneration
    • Yokota, T.; Lu, Q.L.; Morgan, J.E.; Davies, K.E.; Fisher, R.; Takeda, S.; Partridge, T.A. Expansion of revertant fibers in dystrophic mdx muscles reflects activity of muscle precursor cells and serves as an index of muscle regeneration. J. Cell Sci. 2006, 119, 2679-2687.
    • (2006) J. Cell Sci , vol.119 , pp. 2679-2687
    • Yokota, T.1    Lu, Q.L.2    Morgan, J.E.3    Davies, K.E.4    Fisher, R.5    Takeda, S.6    Partridge, T.A.7
  • 79
    • 0026637764 scopus 로고
    • Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): Evidence supporting a framerestoring mechanism in rare dystrophin-positive fibers
    • Klein, C.J.; Coovert, D.D.; Bulman, D.E.; Ray, P.N.; Mendell, J.R.; Burghes, A.H. Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): Evidence supporting a framerestoring mechanism in rare dystrophin-positive fibers. Am. J. Hum. Genet. 1992, 50, 950-959.
    • (1992) Am. J. Hum. Genet , vol.50 , pp. 950-959
    • Klein, C.J.1    Coovert, D.D.2    Bulman, D.E.3    Ray, P.N.4    Mendell, J.R.5    Burghes, A.H.6
  • 80
    • 0034611016 scopus 로고    scopus 로고
    • Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion
    • Lu, Q.L.; Morris, G.E.; Wilton, S.D.; Ly, T.; Artem'yeva, O.V.; Strong, P.; Partridge, T.A. Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion. J. Cell Biol. 2000, 148, 985-996.
    • (2000) J. Cell Biol , vol.148 , pp. 985-996
    • Lu, Q.L.1    Morris, G.E.2    Wilton, S.D.3    Ly, T.4    Artem'Yeva, O.V.5    Strong, P.6    Partridge, T.A.7
  • 82
    • 78049472917 scopus 로고    scopus 로고
    • In-frame dystrophin following exon 51-skipping improves muscle pathology and function in the exon 52-deficient mdx mouse
    • Aoki, Y.; Nakamura, A.; Yokota, T.; Saito, T.; Okazawa, H.; Nagata, T.; Takeda, S. In-frame dystrophin following exon 51-skipping improves muscle pathology and function in the exon 52-deficient mdx mouse. Mol. Ther. 2010, 18, 1995-2005.
    • (2010) Mol. Ther , vol.18 , pp. 1995-2005
    • Aoki, Y.1    Nakamura, A.2    Yokota, T.3    Saito, T.4    Okazawa, H.5    Nagata, T.6    Takeda, S.7
  • 83
    • 77957913755 scopus 로고    scopus 로고
    • Antisense PMO found in dystrophic dog model was effective in cells from exon 7-deleted DMD patient
    • Saito, T.; Nakamura, A.; Aoki, Y.; Yokota, T.; Okada, T.; Osawa, M.; Takeda, S. Antisense PMO found in dystrophic dog model was effective in cells from exon 7-deleted DMD patient. PLoS One 2010, 5, e12239.
    • (2010) PLoS One , vol.5
    • Saito, T.1    Nakamura, A.2    Aoki, Y.3    Yokota, T.4    Okada, T.5    Osawa, M.6    Takeda, S.7
  • 84
    • 30844436415 scopus 로고    scopus 로고
    • Functional analysis of 114 exon-internal AONs for targeted DMD exon skipping: Indication for steric hindrance of SR protein binding sites
    • Aartsma-Rus, A.; de Winter, C.L.; Janson, A.A.; Kaman, W.E.; van Ommen, G.J.; den Dunnen, J.T.; van Deutekom, J.C. Functional analysis of 114 exon-internal AONs for targeted DMD exon skipping: Indication for steric hindrance of SR protein binding sites. Oligonucleotides 2005, 15, 284-297.
    • (2005) Oligonucleotides , vol.15 , pp. 284-297
    • Aartsma-Rus, A.1    de Winter, C.L.2    Janson, A.A.3    Kaman, W.E.4    van Ommen, G.J.5    den Dunnen, J.T.6    van Deutekom, J.C.7
  • 86
    • 0038440559 scopus 로고    scopus 로고
    • Restoration of dystrophin expression in mdx muscle cells by chimeraplast-mediated exon skipping
    • Bertoni, C.; Lau, C.; Rando, T.A. Restoration of dystrophin expression in mdx muscle cells by chimeraplast-mediated exon skipping. Hum. Mol. Genet. 2003, 12, 1087-1099.
    • (2003) Hum. Mol. Genet , vol.12 , pp. 1087-1099
    • Bertoni, C.1    Lau, C.2    Rando, T.A.3
  • 91
    • 33745479703 scopus 로고    scopus 로고
    • Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMD
    • McClorey, G.; Moulton, H.M.; Iversen, P.L.; Fletcher, S.; Wilton, S.D. Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMD. Gene Ther. 2006, 13, 1373-1381.
    • (2006) Gene Ther , vol.13 , pp. 1373-1381
    • McClorey, G.1    Moulton, H.M.2    Iversen, P.L.3    Fletcher, S.4    Wilton, S.D.5
  • 92
    • 59449107366 scopus 로고    scopus 로고
    • By-passing the nonsense mutation in the 4 CV mouse model of muscular dystrophy by induced exon skipping
    • Mitrpant, C.; Fletcher, S.; Iversen, P.L.; Wilton, S.D. By-passing the nonsense mutation in the 4 CV mouse model of muscular dystrophy by induced exon skipping. J. Gene Med. 2009, 11, 46-56.
    • (2009) J. Gene Med , vol.11 , pp. 46-56
    • Mitrpant, C.1    Fletcher, S.2    Iversen, P.L.3    Wilton, S.D.4
  • 94
    • 34248511708 scopus 로고    scopus 로고
    • Antisense oligonucleotide-induced exon skipping across the human dystrophin gene transcript
    • Wilton, S.D.; Fall, A.M.; Harding, P.L.; McClorey, G.; Coleman, C.; Fletcher, S. Antisense oligonucleotide-induced exon skipping across the human dystrophin gene transcript. Mol. Ther. 2007, 15, 1288-1296.
    • (2007) Mol. Ther , vol.15 , pp. 1288-1296
    • Wilton, S.D.1    Fall, A.M.2    Harding, P.L.3    McClorey, G.4    Coleman, C.5    Fletcher, S.6
  • 95
    • 25644449483 scopus 로고    scopus 로고
    • Intraperitoneal administration of phosphorothioate antisense oligodeoxynucleotide against splicing enhancer sequence induced exon skipping in dystrophin mRNA expressed in mdx skeletal muscle
    • Takeshima, Y.; Yagi, M.; Wada, H.; Matsuo, M. Intraperitoneal administration of phosphorothioate antisense oligodeoxynucleotide against splicing enhancer sequence induced exon skipping in dystrophin mRNA expressed in mdx skeletal muscle. Brain Dev. 2005, 27, 488-493.
    • (2005) Brain Dev , vol.27 , pp. 488-493
    • Takeshima, Y.1    Yagi, M.2    Wada, H.3    Matsuo, M.4
  • 96
    • 79960055339 scopus 로고    scopus 로고
    • Antisense oligo-mediated multiple exon skipping in a dog model of Duchenne muscular dystrophy
    • Yokota, T.; Hoffman, E.; Takeda, S. Antisense oligo-mediated multiple exon skipping in a dog model of Duchenne muscular dystrophy. Methods Mol. Biol. 2011, 709, 299-312.
    • (2011) Methods Mol. Biol , vol.709 , pp. 299-312
    • Yokota, T.1    Hoffman, E.2    Takeda, S.3
  • 97
    • 84856546632 scopus 로고    scopus 로고
    • Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy
    • Cirak, S.; Feng, L.; Anthony, K.; Arechavala-Gomeza, V.; Torelli, S.; Sewry, C.; Morgan, J.E.; Muntoni, F. Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy. Mol. Ther. 2012, 20, 462-467.
    • (2012) Mol. Ther , vol.20 , pp. 462-467
    • Cirak, S.1    Feng, L.2    Anthony, K.3    Arechavala-Gomeza, V.4    Torelli, S.5    Sewry, C.6    Morgan, J.E.7    Muntoni, F.8
  • 98
    • 19344369694 scopus 로고    scopus 로고
    • 128th ENMC internationalworkshoponpreclinical optimization and phase I/II clinical trials using antisense oligonucleotides in Duchenne muscular dystrophy 22-24 October 2004, Naarden, The Netherlands
    • Muntoni, F.; Bushby, K.; van Ommen, G. 128th ENMC internationalworkshoponpreclinical optimization and phase I/II clinical trials using antisense oligonucleotides in Duchenne muscular dystrophy 22-24 October 2004, Naarden, The Netherlands. Neuromuscul. Disord. 2005, 15, 450-457.
    • (2005) Neuromuscul. Disord , vol.15 , pp. 450-457
    • Muntoni, F.1    Bushby, K.2    van Ommen, G.3
  • 99
    • 69949107887 scopus 로고    scopus 로고
    • Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: A single-blind, placebo-controlled, dose-escalation, proof-of-concept study
    • Kinali, M.; Arechavala-Gomeza, V.; Feng, L.; Cirak, S.; Hunt, D.; Adkin, C.; Guglieri, M.; Ashton, E.; Abbs, S.; Nihoyannopoulos, P.; et al. Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: A single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol. 2009, 8, 918-928.
    • (2009) Lancet Neurol , vol.8 , pp. 918-928
    • Kinali, M.1    Arechavala-Gomeza, V.2    Feng, L.3    Cirak, S.4    Hunt, D.5    Adkin, C.6    Guglieri, M.7    Ashton, E.8    Abbs, S.9    Nihoyannopoulos, P.10
  • 100
    • 80051690306 scopus 로고    scopus 로고
    • Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: An open-label, phase 2, dose-escalation study
    • Cirak, S.; Arechavala-Gomeza, V.; Guglieri, M.; Feng, L.; Torelli, S.; Anthony, K.; Abbs, S.; Garralda, M.E.; Bourke, J.; Wells, D.J.; et al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: An open-label, phase 2, dose-escalation study. Lancet 2011, 378, 595-605.
    • (2011) Lancet , vol.378 , pp. 595-605
    • Cirak, S.1    Arechavala-Gomeza, V.2    Guglieri, M.3    Feng, L.4    Torelli, S.5    Anthony, K.6    Abbs, S.7    Garralda, M.E.8    Bourke, J.9    Wells, D.J.10
  • 101
    • 0017123442 scopus 로고
    • Congenital muscular dystrophy as a disease of the central nervous system
    • Kamoshita, S.; Konishi, Y.; Segawa, M.; Fukuyama, Y. Congenital muscular dystrophy as a disease of the central nervous system. Arch. Neurol. 1976, 33, 513-516.
    • (1976) Arch. Neurol , vol.33 , pp. 513-516
    • Kamoshita, S.1    Konishi, Y.2    Segawa, M.3    Fukuyama, Y.4
  • 104
    • 0035838362 scopus 로고    scopus 로고
    • Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy
    • Hayashi, Y.K.; Ogawa, M.; Tagawa, K.; Noguchi, S.; Ishihara, T.; Nonaka, I.; Arahata, K. Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology 2001, 57, 115-121.
    • (2001) Neurology , vol.57 , pp. 115-121
    • Hayashi, Y.K.1    Ogawa, M.2    Tagawa, K.3    Noguchi, S.4    Ishihara, T.5    Nonaka, I.6    Arahata, K.7
  • 105
    • 0034535132 scopus 로고    scopus 로고
    • Age and origin of the FCMD 3'-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population
    • Colombo, R.; Bignamini, A.A.; Carobene, A.; Sasaki, J.; Tachikawa, M.; Kobayashi, K.; Toda, T. Age and origin of the FCMD 3'-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population. Hum. genet. 2000, 107, 559-567.
    • (2000) Hum. Genet , vol.107 , pp. 559-567
    • Colombo, R.1    Bignamini, A.A.2    Carobene, A.3    Sasaki, J.4    Tachikawa, M.5    Kobayashi, K.6    Toda, T.7
  • 106
    • 0035793428 scopus 로고    scopus 로고
    • Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin
    • Kobayashi, K.; Sasaki, J.; Kondo-Iida, E.; Fukuda, Y.; Kinoshita, M.; Sunada, Y.; Nakamura, Y.; Toda, T. Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin. FEBS Lett. 2001, 489, 192-196.
    • (2001) FEBS Lett , vol.489 , pp. 192-196
    • Kobayashi, K.1    Sasaki, J.2    Kondo-Iida, E.3    Fukuda, Y.4    Kinoshita, M.5    Sunada, Y.6    Nakamura, Y.7    Toda, T.8
  • 107
    • 0042242582 scopus 로고    scopus 로고
    • ESEfinder: A web resource to identify exonic splicing enhancers
    • Cartegni, L.; Wang, J.; Zhu, Z.; Zhang, M.Q.; Krainer, A.R. ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res. 2003, 31, 3568-3571.
    • (2003) Nucleic Acids Res , vol.31 , pp. 3568-3571
    • Cartegni, L.1    Wang, J.2    Zhu, Z.3    Zhang, M.Q.4    Krainer, A.R.5
  • 109
    • 0037047644 scopus 로고    scopus 로고
    • Predictive identification of exonic splicing enhancers in human genes
    • Fairbrother, W.G.; Yeh, R.F.; Sharp, P.A.; Burge, C.B. Predictive identification of exonic splicing enhancers in human genes. Science 2002, 297, 1007-1013.
    • (2002) Science , vol.297 , pp. 1007-1013
    • Fairbrother, W.G.1    Yeh, R.F.2    Sharp, P.A.3    Burge, C.B.4
  • 110
    • 0031194913 scopus 로고    scopus 로고
    • Myotonic dystrophy: Decreased levels of myotonin protein kinase (Mt-PK) leads to apoptosis in muscle cells
    • Bhagavati, S.; Leung, B.; Shafiq, S.A.; Ghatpande, A. Myotonic dystrophy: Decreased levels of myotonin protein kinase (Mt-PK) leads to apoptosis in muscle cells. Exp. Neurol. 1997, 146, 277-281.
    • (1997) Exp. Neurol , vol.146 , pp. 277-281
    • Bhagavati, S.1    Leung, B.2    Shafiq, S.A.3    Ghatpande, A.4
  • 111
    • 0033653152 scopus 로고    scopus 로고
    • Clinical and genetic heterogeneity in myotonic dystrophies
    • Meola, G. Clinical and genetic heterogeneity in myotonic dystrophies. Muscle Nerve 2000, 23, 1789-1799.
    • (2000) Muscle Nerve , vol.23 , pp. 1789-1799
    • Meola, G.1
  • 112
    • 0033782822 scopus 로고    scopus 로고
    • Myotonic dystrophies
    • Meola, G. Myotonic dystrophies. Curr. Opin. Neurol. 2000, 13, 519-525.
    • (2000) Curr. Opin. Neurol , vol.13 , pp. 519-525
    • Meola, G.1
  • 113
    • 77950434868 scopus 로고    scopus 로고
    • Myotonic dystrophies 1 and 2: Complex diseases with complex mechanisms
    • Schoser, B.; Timchenko, L. Myotonic dystrophies 1 and 2: Complex diseases with complex mechanisms. Curr. Genomics 2010, 11, 77-90.
    • (2010) Curr. Genomics , vol.11 , pp. 77-90
    • Schoser, B.1    Timchenko, L.2
  • 114
    • 33846318219 scopus 로고    scopus 로고
    • Myotonic dystrophy: Emerging mechanisms for DM1 and DM2
    • Cho, D.H.; Tapscott, S.J. Myotonic dystrophy: Emerging mechanisms for DM1 and DM2. Biochim. Biophys. Acta 2007, 1772, 195-204.
    • (2007) Biochim. Biophys. Acta , vol.1772 , pp. 195-204
    • Cho, D.H.1    Tapscott, S.J.2
  • 115
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member
    • Brook, J.D.; McCurrach, M.E.; Harley, H.G.; Buckler, A.J.; Church, D.; Aburatani, H.; Hunter, K.; Stanton, V.P.; Thirion, J.P.; Hudson, T.; et al. Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell 1992, 68, 799-808.
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3    Buckler, A.J.4    Church, D.5    Aburatani, H.6    Hunter, K.7    Stanton, V.P.8    Thirion, J.P.9    Hudson, T.10
  • 119
    • 0032910562 scopus 로고    scopus 로고
    • Myotonic dystrophy: The correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions
    • Hamshere, M.G.; Harley, H.; Harper, P.; Brook, J.D.; Brookfield, J.F. Myotonic dystrophy: The correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions. J. Med. Genet. 1999, 36, 59-61.
    • (1999) J. Med. Genet , vol.36 , pp. 59-61
    • Hamshere, M.G.1    Harley, H.2    Harper, P.3    Brook, J.D.4    Brookfield, J.F.5
  • 121
    • 0028947317 scopus 로고
    • Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
    • Taneja, K.L.; McCurrach, M.; Schalling, M.; Housman, D.; Singer, R.H. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J. Cell Biol. 1995, 128, 995-1002.
    • (1995) J. Cell Biol , vol.128 , pp. 995-1002
    • Taneja, K.L.1    McCurrach, M.2    Schalling, M.3    Housman, D.4    Singer, R.H.5
  • 123
    • 78751680320 scopus 로고    scopus 로고
    • Perspectives on gene therapy in myotonic dystrophy type 1
    • Magana, J.J.; Cisneros, B. Perspectives on gene therapy in myotonic dystrophy type 1. J. Neurosci. Res. 2011, 89, 275-285.
    • (2011) J. Neurosci. Res , vol.89 , pp. 275-285
    • Magana, J.J.1    Cisneros, B.2
  • 124
    • 79960512053 scopus 로고    scopus 로고
    • Therapeutics development in myotonic dystrophy type 1
    • Foff, E.P.; Mahadevan, M.S. Therapeutics development in myotonic dystrophy type 1. Muscle Nerve 2011, 44, 160-169.
    • (2011) Muscle Nerve , vol.44 , pp. 160-169
    • Foff, E.P.1    Mahadevan, M.S.2
  • 125
    • 0027372107 scopus 로고
    • Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy
    • Carango, P.; Noble, J.E.; Marks, H.G.; Funanage, V.L. Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy. Genomics 1993, 18, 340-348.
    • (1993) Genomics , vol.18 , pp. 340-348
    • Carango, P.1    Noble, J.E.2    Marks, H.G.3    Funanage, V.L.4
  • 126
    • 0027291764 scopus 로고
    • Myotonic dystrophy: Absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele
    • Hofmann-Radvanyi, H.; Lavedan, C.; Rabes, J.P.; Savoy, D.; Duros, C.; Johnson, K.; Junien, C. Myotonic dystrophy: Absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele. Hum. Mol. Genet. 1993, 2, 1263-1266.
    • (1993) Hum. Mol. Genet , vol.2 , pp. 1263-1266
    • Hofmann-Radvanyi, H.1    Lavedan, C.2    Rabes, J.P.3    Savoy, D.4    Duros, C.5    Johnson, K.6    Junien, C.7
  • 129
    • 0029163447 scopus 로고
    • Identification, tissue-specific expression, and subcellular localization of the 80- and 71-kDa forms of myotonic dystrophy kinase protein
    • Maeda, M.; Taft, C.S.; Bush, E.W.; Holder, E.; Bailey, W.M.; Neville, H.; Perryman, M.B.; Bies, R.D. Identification, tissue-specific expression, and subcellular localization of the 80- and 71-kDa forms of myotonic dystrophy kinase protein. J. Biol. Chem. 1995, 270, 20246-20249.
    • (1995) J. Biol. Chem , vol.270 , pp. 20246-20249
    • Maeda, M.1    Taft, C.S.2    Bush, E.W.3    Holder, E.4    Bailey, W.M.5    Neville, H.6    Perryman, M.B.7    Bies, R.D.8
  • 133
    • 84863270094 scopus 로고    scopus 로고
    • RNase H-mediated degradation of toxic RNA in myotonic dystrophy type 1
    • Lee, J.E.; Bennett, C.F.; Cooper, T.A. RNase H-mediated degradation of toxic RNA in myotonic dystrophy type 1. Proc. Natl. Acad. Sci. USA 2012, 109, 4221-4226.
    • (2012) Proc. Natl. Acad. Sci. USA , vol.109 , pp. 4221-4226
    • Lee, J.E.1    Bennett, C.F.2    Cooper, T.A.3
  • 135
    • 0034007548 scopus 로고    scopus 로고
    • An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
    • Wirth, B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum. Mutat. 2000, 15, 228-237.
    • (2000) Hum. Mutat , vol.15 , pp. 228-237
    • Wirth, B.1
  • 136
    • 0033358719 scopus 로고    scopus 로고
    • Quantitative analysis of survival motor neuron copies: Identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling
    • Wirth, B.; Herz, M.; Wetter, A.; Moskau, S.; Hahnen, E.; Rudnik-Schoneborn, S.; Wienker, T.; Zerres, K. Quantitative analysis of survival motor neuron copies: Identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am. J. Hum. Genet. 1999, 64, 1340-1356.
    • (1999) Am. J. Hum. Genet , vol.64 , pp. 1340-1356
    • Wirth, B.1    Herz, M.2    Wetter, A.3    Moskau, S.4    Hahnen, E.5    Rudnik-Schoneborn, S.6    Wienker, T.7    Zerres, K.8
  • 137
    • 0015007599 scopus 로고
    • The genetic heterogeneity of spinal muscular atrophy (SMA)
    • Zellweger, H. The genetic heterogeneity of spinal muscular atrophy (SMA). Birth Defects Orig. Artic. Ser. 1971, 7, 82-89.
    • (1971) Birth Defects Orig. Artic. Ser , vol.7 , pp. 82-89
    • Zellweger, H.1
  • 138
    • 0032799998 scopus 로고    scopus 로고
    • A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
    • Monani, U.R.; Lorson, C.L.; Parsons, D.W.; Prior, T.W.; Androphy, E.J.; Burghes, A.H.; McPherson, J.D. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum. Mol. Genet. 1999, 8, 1177-1183.
    • (1999) Hum. Mol. Genet , vol.8 , pp. 1177-1183
    • Monani, U.R.1    Lorson, C.L.2    Parsons, D.W.3    Prior, T.W.4    Androphy, E.J.5    Burghes, A.H.6    McPherson, J.D.7
  • 139
    • 63849196603 scopus 로고    scopus 로고
    • Splicing therapeutics in SMN2 and APOB
    • Khoo, B.; Krainer, A.R. Splicing therapeutics in SMN2 and APOB. Curr. Opin. Mol. Ther. 2009, 11, 108-115.
    • (2009) Curr. Opin. Mol. Ther , vol.11 , pp. 108-115
    • Khoo, B.1    Krainer, A.R.2
  • 140
    • 84555218229 scopus 로고    scopus 로고
    • Spinal muscular atrophy: A clinical and research update
    • Markowitz, J.A.; Singh, P.; Darras, B.T. Spinal muscular atrophy: A clinical and research update. Pediatr. Neurol. 2012, 46, 1-12.
    • (2012) Pediatr. Neurol , vol.46 , pp. 1-12
    • Markowitz, J.A.1    Singh, P.2    Darras, B.T.3
  • 141
    • 80051554264 scopus 로고    scopus 로고
    • Spinal muscular atrophy: A timely review
    • Kolb, S.J.; Kissel, J.T. Spinal muscular atrophy: A timely review. Arch. Neurol. 2011, 68, 979-984.
    • (2011) Arch. Neurol , vol.68 , pp. 979-984
    • Kolb, S.J.1    Kissel, J.T.2
  • 142
    • 77953893282 scopus 로고    scopus 로고
    • Spinal muscular atrophy: Mechanisms and therapeutic strategies
    • Lorson, C.L.; Rindt, H.; Shababi, M. Spinal muscular atrophy: Mechanisms and therapeutic strategies. Hum. Mol. Genet. 2010, 19, R111-R118.
    • (2010) Hum. Mol. Genet , vol.19
    • Lorson, C.L.1    Rindt, H.2    Shababi, M.3
  • 143
    • 84859642566 scopus 로고    scopus 로고
    • Progress and promise: The current status of spinal muscular atrophy therapeutics
    • van Meerbeke, J.P.; Sumner, C.J. Progress and promise: The current status of spinal muscular atrophy therapeutics. Discov. Med. 2011, 12, 291-305.
    • (2011) Discov. Med , vol.12 , pp. 291-305
    • van Meerbeke, J.P.1    Sumner, C.J.2
  • 144
    • 84876444381 scopus 로고    scopus 로고
    • Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing: Towards a treatment for spinal muscular atrophy
    • Mitrpant, C.; Porensky, P.; Zhou, H.; Price, L.; Muntoni, F.; Fletcher, S.; Wilton, S.D.; Burghes, A.H. Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing: Towards a treatment for spinal muscular atrophy. PLoS One 2013, 8, e62114.
    • (2013) PLoS One , vol.8
    • Mitrpant, C.1    Porensky, P.2    Zhou, H.3    Price, L.4    Muntoni, F.5    Fletcher, S.6    Wilton, S.D.7    Burghes, A.H.8
  • 149
    • 1342282487 scopus 로고    scopus 로고
    • Characterisation of the dysferlin skeletal muscle promoter
    • Foxton, R.M.; Laval, S.H.; Bushby, K.M. Characterisation of the dysferlin skeletal muscle promoter. Eur. J. Hum. Genet. 2004, 12, 127-131.
    • (2004) Eur. J. Hum. Genet , vol.12 , pp. 127-131
    • Foxton, R.M.1    Laval, S.H.2    Bushby, K.M.3
  • 150
    • 56049115820 scopus 로고    scopus 로고
    • How to go about diagnosing and managing the limb-girdle muscular dystrophies
    • Guglieri, M.; Bushby, K. How to go about diagnosing and managing the limb-girdle muscular dystrophies. Neurol. India 2008, 56, 271-280.
    • (2008) Neurol. India , vol.56 , pp. 271-280
    • Guglieri, M.1    Bushby, K.2
  • 154
    • 1842556210 scopus 로고    scopus 로고
    • Dysferlin and the plasma membrane repair in muscular dystrophy
    • Bansal, D.; Campbell, K.P. Dysferlin and the plasma membrane repair in muscular dystrophy. Trends Cell Biol. 2004, 14, 206-213.
    • (2004) Trends Cell Biol , vol.14 , pp. 206-213
    • Bansal, D.1    Campbell, K.P.2
  • 155
    • 67650133653 scopus 로고    scopus 로고
    • Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin
    • Cai, C.; Weisleder, N.; Ko, J.K.; Komazaki, S.; Sunada, Y.; Nishi, M.; Takeshima, H.; Ma, J. Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. J. Biol. Chem. 2009, 284, 15894-15902.
    • (2009) J. Biol. Chem , vol.284 , pp. 15894-15902
    • Cai, C.1    Weisleder, N.2    Ko, J.K.3    Komazaki, S.4    Sunada, Y.5    Nishi, M.6    Takeshima, H.7    Ma, J.8
  • 156
    • 34447118089 scopus 로고    scopus 로고
    • Dysferlin-mediated membrane repair protects the heart from stress-induced left ventricular injury
    • Han, R.; Bansal, D.; Miyake, K.; Muniz, V.P.; Weiss, R.M.; McNeil, P.L.; Campbell, K.P. Dysferlin-mediated membrane repair protects the heart from stress-induced left ventricular injury. J. Clin. Invest. 2007, 117, 1805-1813.
    • (2007) J. Clin. Invest , vol.117 , pp. 1805-1813
    • Han, R.1    Bansal, D.2    Miyake, K.3    Muniz, V.P.4    Weiss, R.M.5    McNeil, P.L.6    Campbell, K.P.7
  • 157
    • 34548009359 scopus 로고    scopus 로고
    • Dysferlin and muscle membrane repair
    • Han, R.; Campbell, K.P. Dysferlin and muscle membrane repair. Curr. Opin. Cell Biol. 2007, 19, 409-416.
    • (2007) Curr. Opin. Cell Biol , vol.19 , pp. 409-416
    • Han, R.1    Campbell, K.P.2
  • 159
    • 0033595539 scopus 로고    scopus 로고
    • Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
    • Matsuda, C.; Aoki, M.; Hayashi, Y.K.; Ho, M.F.; Arahata, K.; Brown, R.H., Jr. Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. Neurology 1999, 53, 1119-1122.
    • (1999) Neurology , vol.53 , pp. 1119-1122
    • Matsuda, C.1    Aoki, M.2    Hayashi, Y.K.3    Ho, M.F.4    Arahata, K.5    Brown Jr., R.H.6
  • 162
    • 33646082014 scopus 로고    scopus 로고
    • Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy
    • Sinnreich, M.; Therrien, C.; Karpati, G. Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy. Neurology 2006, 66, 1114-1116.
    • (2006) Neurology , vol.66 , pp. 1114-1116
    • Sinnreich, M.1    Therrien, C.2    Karpati, G.3
  • 163
    • 80355127274 scopus 로고    scopus 로고
    • ALS-Motor neuron disease: Mechanism and development of new therapies
    • Rothstein, J.D. ALS-Motor neuron disease: Mechanism and development of new therapies. J. Vis. Exp. 2007, e245.
    • (2007) J. Vis. Exp
    • Rothstein, J.D.1
  • 164
    • 0037168769 scopus 로고    scopus 로고
    • Early symptom progression rate is related to ALS outcome: A prospective population-based study
    • Turner, M.; Al-Chalabi, A. Early symptom progression rate is related to ALS outcome: A prospective population-based study. Neurology 2002, 59, 2012-2013.
    • (2002) Neurology , vol.59 , pp. 2012-2013
    • Turner, M.1    Al-Chalabi, A.2
  • 165
    • 0033231494 scopus 로고    scopus 로고
    • From Charcot to SOD1: Mechanisms of selective motor neuron death in ALS
    • Cleveland, D.W. From Charcot to SOD1: Mechanisms of selective motor neuron death in ALS. Neuron 1999, 24, 515-520.
    • (1999) Neuron , vol.24 , pp. 515-520
    • Cleveland, D.W.1
  • 166
    • 79251625564 scopus 로고    scopus 로고
    • Neurophysiological index as a biomarker for ALS progression: Validity of mixed effects models
    • Cheah, B.C.; Vucic, S.; Krishnan, A.V.; Boland, R.A.; Kiernan, M.C. Neurophysiological index as a biomarker for ALS progression: Validity of mixed effects models. Amyotroph. Lateral Scler. 2011, 12, 33-38.
    • (2011) Amyotroph. Lateral Scler , vol.12 , pp. 33-38
    • Cheah, B.C.1    Vucic, S.2    Krishnan, A.V.3    Boland, R.A.4    Kiernan, M.C.5
  • 167
    • 0017661112 scopus 로고
    • A new classification of amyotrophic lateral sclerosis (ALS) and familial amyotrophic lateral sclerosis (FALS)
    • Morariu, M.A. A new classification of amyotrophic lateral sclerosis (ALS) and familial amyotrophic lateral sclerosis (FALS). Dis. Nerv. Syst. 1977, 38, 468-469.
    • (1977) Dis. Nerv. Syst , vol.38 , pp. 468-469
    • Morariu, M.A.1
  • 170
    • 0029053881 scopus 로고
    • An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria
    • Wong, P.C.; Pardo, C.A.; Borchelt, D.R.; Lee, M.K.; Copeland, N.G.; Jenkins, N.A.; Sisodia, S.S.; Cleveland, D.W.; Price, D.L. An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron 1995, 14, 1105-1116.
    • (1995) Neuron , vol.14 , pp. 1105-1116
    • Wong, P.C.1    Pardo, C.A.2    Borchelt, D.R.3    Lee, M.K.4    Copeland, N.G.5    Jenkins, N.A.6    Sisodia, S.S.7    Cleveland, D.W.8    Price, D.L.9
  • 171
    • 3943102116 scopus 로고    scopus 로고
    • Unraveling the mechanisms involved in motor neuron degeneration in ALS
    • Bruijn, L.I.; Miller, T.M.; Cleveland, D.W. Unraveling the mechanisms involved in motor neuron degeneration in ALS. Annu. Rev. Neurosci. 2004, 27, 723-749.
    • (2004) Annu. Rev. Neurosci , vol.27 , pp. 723-749
    • Bruijn, L.I.1    Miller, T.M.2    Cleveland, D.W.3
  • 176
    • 0032815965 scopus 로고    scopus 로고
    • Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds
    • Ratovitski, T.; Corson, L.B.; Strain, J.; Wong, P.; Cleveland, D.W.; Culotta, V.C.; Borchelt, D.R. Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds. Hum. Mol. Genet. 1999, 8, 1451-1460.
    • (1999) Hum. Mol. Genet , vol.8 , pp. 1451-1460
    • Ratovitski, T.1    Corson, L.B.2    Strain, J.3    Wong, P.4    Cleveland, D.W.5    Culotta, V.C.6    Borchelt, D.R.7
  • 177
    • 84880956773 scopus 로고    scopus 로고
    • Is SOD1 loss of function involved in amyotrophic lateral sclerosis?
    • 10.1093/brain/awt097
    • Saccon, R.A.; Bunton-Stasyshyn, R.K.; Fisher, E.M.; Fratta, P. Is SOD1 loss of function involved in amyotrophic lateral sclerosis? Brain 2013, doi:10.1093/brain/awt097
    • (2013) Brain
    • Saccon, R.A.1    Bunton-Stasyshyn, R.K.2    Fisher, E.M.3    Fratta, P.4
  • 178
    • 38549169530 scopus 로고    scopus 로고
    • The two faces of protein misfolding: Gain- and loss-of-function in neurodegenerative diseases
    • Winklhofer, K.F.; Tatzelt, J.; Haass, C. The two faces of protein misfolding: Gain- and loss-of-function in neurodegenerative diseases. EMBO J. 2008, 27, 336-349.
    • (2008) EMBO J , vol.27 , pp. 336-349
    • Winklhofer, K.F.1    Tatzelt, J.2    Haass, C.3
  • 179
    • 77955643169 scopus 로고    scopus 로고
    • Molecular mechanisms and potential therapeutical targets in Huntington's disease
    • Zuccato, C.; Valenza, M.; Cattaneo, E. Molecular mechanisms and potential therapeutical targets in Huntington's disease. Physiol. Rev. 2010, 90, 905-981.
    • (2010) Physiol. Rev , vol.90 , pp. 905-981
    • Zuccato, C.1    Valenza, M.2    Cattaneo, E.3
  • 180
    • 84879958098 scopus 로고    scopus 로고
    • Antisense oligonucleotides: Treating neurodegeneration at the level of RNA
    • Devos, S.L.; Miller, T.M. Antisense oligonucleotides: Treating neurodegeneration at the level of RNA. Neurotherapeutics 2013, 10, 486-497.
    • (2013) Neurotherapeutics , vol.10 , pp. 486-497
    • Devos, S.L.1    Miller, T.M.2
  • 185
    • 84861860140 scopus 로고    scopus 로고
    • Wide phenotypic spectrum of the TARDBP gene: Homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject
    • Mosca, L.; Lunetta, C.; Tarlarini, C.; Avemaria, F.; Maestri, E.; Melazzini, M.; Corbo, M.; Penco, S. Wide phenotypic spectrum of the TARDBP gene: Homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject. Neurobiol. Aging 2012, 33, 1846.e1-1846.e4.
    • (2012) Neurobiol. Aging , vol.33
    • Mosca, L.1    Lunetta, C.2    Tarlarini, C.3    Avemaria, F.4    Maestri, E.5    Melazzini, M.6    Corbo, M.7    Penco, S.8
  • 190
    • 84857050135 scopus 로고    scopus 로고
    • Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: A population-based cohort study
    • Byrne, S.; Elamin, M.; Bede, P.; Shatunov, A.; Walsh, C.; Corr, B.; Heverin, M.; Jordan, N.; Kenna, K.; Lynch, C.; et al. Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: A population-based cohort study. Lancet Neurol. 2012, 11, 232-240.
    • (2012) Lancet Neurol , vol.11 , pp. 232-240
    • Byrne, S.1    Elamin, M.2    Bede, P.3    Shatunov, A.4    Walsh, C.5    Corr, B.6    Heverin, M.7    Jordan, N.8    Kenna, K.9    Lynch, C.10
  • 193
    • 84858622829 scopus 로고    scopus 로고
    • Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study
    • Majounie, E.; Renton, A.E.; Mok, K.; Dopper, E.G.; Waite, A.; Rollinson, S.; Chio, A.; Restagno, G.; Nicolaou, N.; Simon-Sanchez, J.; et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study. Lancet Neurol. 2012, 11, 323-330.
    • (2012) Lancet Neurol , vol.11 , pp. 323-330
    • Majounie, E.1    Renton, A.E.2    Mok, K.3    Dopper, E.G.4    Waite, A.5    Rollinson, S.6    Chio, A.7    Restagno, G.8    Nicolaou, N.9    Simon-Sanchez, J.10
  • 194
    • 84861889360 scopus 로고    scopus 로고
    • High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients
    • Mok, K.Y.; Koutsis, G.; Schottlaender, L.V.; Polke, J.; Panas, M.; Houlden, H. High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients. Neurobiol. Aging 2012, 33, 1851.e1-1851.e5.
    • (2012) Neurobiol. Aging , vol.33
    • Mok, K.Y.1    Koutsis, G.2    Schottlaender, L.V.3    Polke, J.4    Panas, M.5    Houlden, H.6
  • 197
    • 84870041158 scopus 로고    scopus 로고
    • How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: Can we learn from other noncoding repeat expansion disorders
    • van Blitterswijk, M.; DeJesus-Hernandez, M.; Rademakers, R. How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: Can we learn from other noncoding repeat expansion disorders? Curr. Opin. Neurol. 2012, 25, 689-700.
    • (2012) Curr. Opin. Neurol , vol.25 , pp. 689-700
    • van Blitterswijk, M.1    Dejesus-Hernandez, M.2    Rademakers, R.3
  • 203
    • 84858620858 scopus 로고    scopus 로고
    • C9orf72 repeat expansions in patients with ALS and FTD
    • Rademakers, R. C9orf72 repeat expansions in patients with ALS and FTD. Lancet Neurol. 2012, 11, 297-298.
    • (2012) Lancet Neurol , vol.11 , pp. 297-298
    • Rademakers, R.1
  • 209
    • 0029039238 scopus 로고
    • Transcription of the Huntington disease gene during the quinolinic acid excitotoxic cascade
    • Carlock, L.; Walker, P.D.; Shan, Y.; Gutridge, K. Transcription of the Huntington disease gene during the quinolinic acid excitotoxic cascade. Neuroreport 1995, 6, 1121-1124.
    • (1995) Neuroreport , vol.6 , pp. 1121-1124
    • Carlock, L.1    Walker, P.D.2    Shan, Y.3    Gutridge, K.4
  • 210
    • 0025281642 scopus 로고
    • Clinical assessment of irritability, aggression, and apathy in Huntington and Alzheimer disease
    • Burns, A.; Folstein, S.; Brandt, J.; Folstein, M. Clinical assessment of irritability, aggression, and apathy in Huntington and Alzheimer disease. J. Nerv. Ment. Dis. 1990, 178, 20-26.
    • (1990) J. Nerv. Ment. Dis , vol.178 , pp. 20-26
    • Burns, A.1    Folstein, S.2    Brandt, J.3    Folstein, M.4
  • 213
    • 24644479046 scopus 로고    scopus 로고
    • Regional cortical thinning in preclinical Huntington disease and its relationship to cognition
    • Rosas, H.D.; Hevelone, N.D.; Zaleta, A.K.; Greve, D.N.; Salat, D.H.; Fischl, B. Regional cortical thinning in preclinical Huntington disease and its relationship to cognition. Neurology 2005, 65, 745-747.
    • (2005) Neurology , vol.65 , pp. 745-747
    • Rosas, H.D.1    Hevelone, N.D.2    Zaleta, A.K.3    Greve, D.N.4    Salat, D.H.5    Fischl, B.6
  • 215
    • 72149084425 scopus 로고    scopus 로고
    • Huntington disease: Pathogenesis, biomarkers, and approaches to experimental therapeutics
    • Ross, C.A.; Shoulson, I. Huntington disease: Pathogenesis, biomarkers, and approaches to experimental therapeutics. Parkinsonism Relat. Disord. 2009, 15, S135-S138.
    • (2009) Parkinsonism Relat. Disord , vol.15
    • Ross, C.A.1    Shoulson, I.2
  • 216
    • 80555156565 scopus 로고    scopus 로고
    • The long and the short of aberrant ciliogenesis in Huntington disease
    • Liu, J.P.; Zeitlin, S.O. The long and the short of aberrant ciliogenesis in Huntington disease. J. Clin. Invest. 2011, 121, 4237-4241.
    • (2011) J. Clin. Invest , vol.121 , pp. 4237-4241
    • Liu, J.P.1    Zeitlin, S.O.2
  • 217
    • 77952963489 scopus 로고    scopus 로고
    • Gene- and cell-based approaches for neurodegenerative disease
    • Urbaniak Hunter, K.; Yarbrough, C.; Ciacci, J. Gene- and cell-based approaches for neurodegenerative disease. Adv. Exp. Med. Biol. 2010, 671, 117-130.
    • (2010) Adv. Exp. Med. Biol , vol.671 , pp. 117-130
    • Urbaniak Hunter, K.1    Yarbrough, C.2    Ciacci, J.3
  • 218
    • 0027519511 scopus 로고
    • Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number
    • Rubinsztein, D.C.; Barton, D.E.; Davison, B.C.; Ferguson-Smith, M.A. Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number. Hum. Mol. Genet. 1993, 2, 1713-1715.
    • (1993) Hum. Mol. Genet , vol.2 , pp. 1713-1715
    • Rubinsztein, D.C.1    Barton, D.E.2    Davison, B.C.3    Ferguson-Smith, M.A.4
  • 220
    • 0031918640 scopus 로고    scopus 로고
    • Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: Correlation between the density of inclusions and IT15 CAG triplet repeat length
    • Becher, M.W.; Kotzuk, J.A.; Sharp, A.H.; Davies, S.W.; Bates, G.P.; Price, D.L.; Ross, C.A. Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: Correlation between the density of inclusions and IT15 CAG triplet repeat length. Neurobiol. Dis. 1998, 4, 387-397.
    • (1998) Neurobiol. Dis , vol.4 , pp. 387-397
    • Becher, M.W.1    Kotzuk, J.A.2    Sharp, A.H.3    Davies, S.W.4    Bates, G.P.5    Price, D.L.6    Ross, C.A.7
  • 231
    • 0031867231 scopus 로고    scopus 로고
    • Wild-type and mutant huntingtins function in vesicle trafficking in the secretory and endocytic pathways
    • Velier, J.; Kim, M.; Schwarz, C.; Kim, T.W.; Sapp, E.; Chase, K.; Aronin, N.; DiFiglia, M. Wild-type and mutant huntingtins function in vesicle trafficking in the secretory and endocytic pathways. Exp. Neurol.1998, 152, 34-40.
    • (1998) Exp. Neurol , vol.152 , pp. 34-40
    • Velier, J.1    Kim, M.2    Schwarz, C.3    Kim, T.W.4    Sapp, E.5    Chase, K.6    Aronin, N.7    Difiglia, M.8
  • 234
    • 24344461460 scopus 로고    scopus 로고
    • Synaptic dysfunction in Huntington's disease: A new perspective
    • Smith, R.; Brundin, P.; Li, J.Y. Synaptic dysfunction in Huntington's disease: A new perspective. Cell. Mol. Life Sci. 2005, 62, 1901-1912.
    • (2005) Cell. Mol. Life Sci , vol.62 , pp. 1901-1912
    • Smith, R.1    Brundin, P.2    Li, J.Y.3
  • 235
    • 35348913211 scopus 로고    scopus 로고
    • Huntingtin-interacting protein 1 influences worm and mouse presynaptic function and protects Caenorhabditis elegans neurons against mutant polyglutamine toxicity
    • Parker, J.A.; Metzler, M.; Georgiou, J.; Mage, M.; Roder, J.C.; Rose, A.M.; Hayden, M.R.; Neri, C. Huntingtin-interacting protein 1 influences worm and mouse presynaptic function and protects Caenorhabditis elegans neurons against mutant polyglutamine toxicity. J. Neurosci. 2007, 27, 11056-11064.
    • (2007) J. Neurosci , vol.27 , pp. 11056-11064
    • Parker, J.A.1    Metzler, M.2    Georgiou, J.3    Mage, M.4    Roder, J.C.5    Rose, A.M.6    Hayden, M.R.7    Neri, C.8
  • 236
    • 0033757718 scopus 로고    scopus 로고
    • Inactivation of Hdh in the brain and testis results in progressive neurodegeneration and sterility in mice
    • Dragatsis, I.; Levine, M.S.; Zeitlin, S. Inactivation of Hdh in the brain and testis results in progressive neurodegeneration and sterility in mice. Nat. Genet. 2000, 26, 300-306.
    • (2000) Nat. Genet , vol.26 , pp. 300-306
    • Dragatsis, I.1    Levine, M.S.2    Zeitlin, S.3
  • 237
    • 67349100160 scopus 로고    scopus 로고
    • Nonallele-specific silencing of mutant and wild-type huntingtin demonstrates therapeutic efficacyinHuntington'sdiseasemice.Mol
    • Boudreau, R.L.; McBride, J.L.; Martins, I.; Shen, S.; Xing, Y.; Carter, B.J.; Davidson, B.L. Nonallele-specific silencing of mutant and wild-type huntingtin demonstrates therapeutic efficacyinHuntington'sdiseasemice.Mol. Ther. 2009, 17, 1053-1063.
    • (2009) Ther , vol.17 , pp. 1053-1063
    • Boudreau, R.L.1    McBride, J.L.2    Martins, I.3    Shen, S.4    Xing, Y.5    Carter, B.J.6    Davidson, B.L.7
  • 242
    • 47549105506 scopus 로고    scopus 로고
    • Identification and allele-specific silencing of the mutant huntingtin allele in Huntington's disease patient-derived fibroblasts
    • van Bilsen, P.H.; Jaspers, L.; Lombardi, M.S.; Odekerken, J.C.; Burright, E.N.; Kaemmerer, W.F. Identification and allele-specific silencing of the mutant huntingtin allele in Huntington's disease patient-derived fibroblasts. Hum. Gene Ther. 2008, 19, 710-719.
    • (2008) Hum. Gene Ther , vol.19 , pp. 710-719
    • van Bilsen, P.H.1    Jaspers, L.2    Lombardi, M.S.3    Odekerken, J.C.4    Burright, E.N.5    Kaemmerer, W.F.6
  • 243
    • 70349469318 scopus 로고    scopus 로고
    • Allele-selective inhibition of mutant huntingtin by peptide nucleic acid-peptide conjugates, locked nucleic acid, and small interfering RNA
    • Hu, J.; Matsui, M.; Corey, D.R. Allele-selective inhibition of mutant huntingtin by peptide nucleic acid-peptide conjugates, locked nucleic acid, and small interfering RNA. Ann. N. Y. Acad. Sci. 2009, 1175, 24-31.
    • (2009) Ann. N. Y. Acad. Sci , vol.1175 , pp. 24-31
    • Hu, J.1    Matsui, M.2    Corey, D.R.3
  • 248
    • 0034737299 scopus 로고    scopus 로고
    • Reversal of neuropathology and motor dysfunction in a conditiona lmodel of Huntington's disease
    • Yamamoto, A.; Lucas, J.J.; Hen, R. Reversal of neuropathology and motor dysfunction in a conditiona lmodel of Huntington's disease. Cell 2000, 101, 57-66.
    • (2000) Cell , vol.101 , pp. 57-66
    • Yamamoto, A.1    Lucas, J.J.2    Hen, R.3
  • 250
    • 71749087536 scopus 로고    scopus 로고
    • Cellular localization and allele-selective inhibition of mutant huntingtin protein by peptide nucleic acid oligomers containing the fluorescent nucleobase [bis-o-(aminoethoxy)phenyl]pyrrolocytosine
    • Hu, J.; Dodd, D.W.; Hudson, R.H.; Corey, D.R. Cellular localization and allele-selective inhibition of mutant huntingtin protein by peptide nucleic acid oligomers containing the fluorescent nucleobase [bis-o-(aminoethoxy)phenyl]pyrrolocytosine. Bioorg. Med. Chem. Lett. 2009, 19, 6181-6184.
    • (2009) Bioorg. Med. Chem. Lett , vol.19 , pp. 6181-6184
    • Hu, J.1    Dodd, D.W.2    Hudson, R.H.3    Corey, D.R.4
  • 253
    • 84878684143 scopus 로고    scopus 로고
    • Splicing therapy for neuromuscular disease
    • Douglas, A.G.; Wood, M.J. Splicing therapy for neuromuscular disease. Mol. Cell. Neurosci. 2013, 56, 169-185.
    • (2013) Mol. Cell. Neurosci , vol.56 , pp. 169-185
    • Douglas, A.G.1    Wood, M.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.