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Volumn 314, Issue 4, 2008, Pages 878-886

Genetic conversion of an SMN2 gene to SMN1: A novel approach to the treatment of spinal muscular atrophy

Author keywords

Gene alteration; Single stranded oligonucleotides; SMA

Indexed keywords

PROTEIN SMN1; PROTEIN SMN2; SURVIVAL MOTOR NEURON PROTEIN; UNCLASSIFIED DRUG;

EID: 38949190657     PISSN: 00144827     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.yexcr.2007.10.012     Document Type: Article
Times cited : (25)

References (34)
  • 2
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    • Lorson C.L., Hahnen E., Androphy E.J., and Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc. Natl. Acad. Sci. U. S. A. 96 (1999) 6307-6311
    • (1999) Proc. Natl. Acad. Sci. U. S. A. , vol.96 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3    Wirth, B.4
  • 3
    • 0041665176 scopus 로고    scopus 로고
    • A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
    • Kashima T., and Manley J.L. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat. Genet. 34 (2003) 460-463
    • (2003) Nat. Genet. , vol.34 , pp. 460-463
    • Kashima, T.1    Manley, J.L.2
  • 5
    • 0036544654 scopus 로고    scopus 로고
    • Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
    • Cartegni L., and Krainer A.R. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat. Genet. 30 (2002) 377-384
    • (2002) Nat. Genet. , vol.30 , pp. 377-384
    • Cartegni, L.1    Krainer, A.R.2
  • 6
    • 0033983258 scopus 로고    scopus 로고
    • An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
    • Lorson C.L., and Androphy E.J. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum. Mol. Genet. 9 (2000) 259-265
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 259-265
    • Lorson, C.L.1    Androphy, E.J.2
  • 7
    • 0036154959 scopus 로고    scopus 로고
    • Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
    • Feldkotter M., Schwarzer V., Wirth R., Wienker T.F., and Wirth B. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am. J. Hum. Genet. 70 (2002) 358-368
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 358-368
    • Feldkotter, M.1    Schwarzer, V.2    Wirth, R.3    Wienker, T.F.4    Wirth, B.5
  • 9
    • 33744803707 scopus 로고    scopus 로고
    • In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate
    • Brichta L., Holker I., Haug K., Klockgether T., and Wirth B. In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Ann. Neurol. 59 (2006) 970-975
    • (2006) Ann. Neurol. , vol.59 , pp. 970-975
    • Brichta, L.1    Holker, I.2    Haug, K.3    Klockgether, T.4    Wirth, B.5
  • 10
    • 0037261030 scopus 로고    scopus 로고
    • Development of a gene therapy strategy for the restoration of survival motor neuron protein expression: implications for spinal muscular atrophy therapy
    • DiDonato C.J., Parks R.J., and Kothary R. Development of a gene therapy strategy for the restoration of survival motor neuron protein expression: implications for spinal muscular atrophy therapy. Hum. Gene Ther. 14 (2003) 179-188
    • (2003) Hum. Gene Ther. , vol.14 , pp. 179-188
    • DiDonato, C.J.1    Parks, R.J.2    Kothary, R.3
  • 12
    • 17644372695 scopus 로고    scopus 로고
    • Gene therapy progress and prospects: targeted gene repair
    • Parekh-Olmedo H., Ferrara L., Brachman E., and Kmiec E.B. Gene therapy progress and prospects: targeted gene repair. Gene Ther. 12 (2005) 639-646
    • (2005) Gene Ther. , vol.12 , pp. 639-646
    • Parekh-Olmedo, H.1    Ferrara, L.2    Brachman, E.3    Kmiec, E.B.4
  • 14
    • 33745144314 scopus 로고    scopus 로고
    • Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector
    • Baughan T., Shababi M., Coady T.H., Dickson A.M., Tullis G.E., and Lorson C.L. Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector. Mol. Ther. 14 (2006) 54-62
    • (2006) Mol. Ther. , vol.14 , pp. 54-62
    • Baughan, T.1    Shababi, M.2    Coady, T.H.3    Dickson, A.M.4    Tullis, G.E.5    Lorson, C.L.6
  • 15
    • 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., and Krainer A.R. Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon. PLoS Biol. 5 (2007) 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
  • 16
    • 0038723182 scopus 로고    scopus 로고
    • Determination of SMN1 and SMN2 copy number using TaqMan technology
    • Anhuf D., Eggermann T., Rudnik-Schoneborn S., and Zerres K. Determination of SMN1 and SMN2 copy number using TaqMan technology. Human Mutat. 22 (2003) 74-78
    • (2003) Human Mutat. , vol.22 , pp. 74-78
    • Anhuf, D.1    Eggermann, T.2    Rudnik-Schoneborn, S.3    Zerres, K.4
  • 17
    • 23244458683 scopus 로고    scopus 로고
    • Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells
    • Grzeschik S.M., Ganta M., Prior T.W., Heavlin W.D., and Wang C.H. Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. Ann. Neurol. 58 (2005) 194-202
    • (2005) Ann. Neurol. , vol.58 , pp. 194-202
    • Grzeschik, S.M.1    Ganta, M.2    Prior, T.W.3    Heavlin, W.D.4    Wang, C.H.5
  • 20
    • 0035886376 scopus 로고    scopus 로고
    • In vivo gene repair of point and frameshift mutations directed by chimeric RNA/DNA oligonucleotides and modified single-stranded oligonucleotides
    • Liu L., Rice M.C., and Kmiec E.B. In vivo gene repair of point and frameshift mutations directed by chimeric RNA/DNA oligonucleotides and modified single-stranded oligonucleotides. Nucleic Acids Res. 29 (2001) 4238-4250
    • (2001) Nucleic Acids Res. , vol.29 , pp. 4238-4250
    • Liu, L.1    Rice, M.C.2    Kmiec, E.B.3
  • 21
    • 0036097061 scopus 로고    scopus 로고
    • Strand bias in targeted gene repair is influenced by transcriptional activity
    • Liu L., Rice M.C., Drury M., Cheng S., Gamper H., and Kmiec E.B. Strand bias in targeted gene repair is influenced by transcriptional activity. Mol. Cell. Biol. 22 (2002) 3852-3863
    • (2002) Mol. Cell. Biol. , vol.22 , pp. 3852-3863
    • Liu, L.1    Rice, M.C.2    Drury, M.3    Cheng, S.4    Gamper, H.5    Kmiec, E.B.6
  • 22
    • 4444335574 scopus 로고    scopus 로고
    • DNA replication and transcription direct a DNA strand bias in the process of targeted gene repair in mammalian cells
    • Brachman E.E., and Kmiec E.B. DNA replication and transcription direct a DNA strand bias in the process of targeted gene repair in mammalian cells. J. Cell Sci. 117 (2004) 3867-3874
    • (2004) J. Cell Sci. , vol.117 , pp. 3867-3874
    • Brachman, E.E.1    Kmiec, E.B.2
  • 25
    • 25844491611 scopus 로고    scopus 로고
    • A tolerance of DNA heterology in the mammalian targeted gene repair reaction
    • Drury M.D., Skogen M.J., and Kmiec E.B. A tolerance of DNA heterology in the mammalian targeted gene repair reaction. Oligonucleotides 15 (2005) 155-171
    • (2005) Oligonucleotides , vol.15 , pp. 155-171
    • Drury, M.D.1    Skogen, M.J.2    Kmiec, E.B.3
  • 26
    • 12744274779 scopus 로고    scopus 로고
    • Strand bias in oligonucleotide-mediated dystrophin gene editing
    • Bertoni C., Morris G.E., and Rando T.A. Strand bias in oligonucleotide-mediated dystrophin gene editing. Hum. Mol. Genet. 14 (2005) 221-233
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 221-233
    • Bertoni, C.1    Morris, G.E.2    Rando, T.A.3
  • 27
    • 26444523139 scopus 로고    scopus 로고
    • Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy
    • Jarecki J., Chen X., Bernardino A., Coovert D.D., Whitney M., Burghes A., Stack J., and Pollok B.A. Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy. Hum. Mol. Genet. 14 (2005) 2003-2018
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 2003-2018
    • Jarecki, J.1    Chen, X.2    Bernardino, A.3    Coovert, D.D.4    Whitney, M.5    Burghes, A.6    Stack, J.7    Pollok, B.A.8
  • 29
    • 33750570039 scopus 로고    scopus 로고
    • Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts
    • Mattis V.B., Rai R., Wang J., Chang C.W., Coady T., and Lorson C.L. Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts. Hum. Genet. 120 (2006) 589-601
    • (2006) Hum. Genet. , vol.120 , pp. 589-601
    • Mattis, V.B.1    Rai, R.2    Wang, J.3    Chang, C.W.4    Coady, T.5    Lorson, C.L.6
  • 32
    • 33750001213 scopus 로고    scopus 로고
    • Establishing a standardized therapeutic testing protocol for spinal muscular atrophy
    • Tsai L.K., Tsai M.S., Lin T.B., Hwu W.L., and Li H. Establishing a standardized therapeutic testing protocol for spinal muscular atrophy. Neurobiol. Dis. 24 (2006) 286-295
    • (2006) Neurobiol. Dis. , vol.24 , pp. 286-295
    • Tsai, L.K.1    Tsai, M.S.2    Lin, T.B.3    Hwu, W.L.4    Li, H.5
  • 34
    • 33644513130 scopus 로고    scopus 로고
    • Gene-based treatment of motor neuron diseases
    • Federici T., and Boulis N.M. Gene-based treatment of motor neuron diseases. Muscle Nerve 33 (2006) 302-323
    • (2006) Muscle Nerve , vol.33 , pp. 302-323
    • Federici, T.1    Boulis, N.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.