2．筋ジストロフィーの分子機構と治療戦略
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| Published in | 日本内科学会雑誌 Vol. 105; no. Suppl; pp. 77a - 83a |
|---|---|
| Main Author | |
| Format | Journal Article |
| Language | Japanese |
| Published |
一般社団法人 日本内科学会
2016
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0021-5384 1883-2083 |
| DOI | 10.2169/naika.105.77a |
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| Author | 戸田, 達史 |
|---|---|
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| DOI | 10.2169/naika.105.77a |
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| References | 1) GeneTable of Neuromuscular Disorders. http://www.musclegenetable.fr 9) Inamori K, et al: Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE. Science 335: 93-96, 2012. 6) Malicdan MC, et al: Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model. Nat Med 15: 690-695, 2009. 2) 金川 基: ジストログリカンの糖鎖機能と筋ジストロフィー. 生化学 86: 452-463, 2014. 3) Mendell JR, et al: Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol 74: 637-647, 2013. 4) Welch EM, et al: PTC124 targets genetic disorders caused by nonsense mutations. Nature 447: 87-91, 2007. 10) Taniguchi-Ikeda M, et al: Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. Nature 478: 127-131, 2011. 5) Bogdanovich S, et al: Functional improvement of dystrophic muscle by myostatin blockade. Nature 420: 418-421, 2002. 7) Kobayashi K, et al: An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394: 388-392, 1998. 8) Yoshida-Moriguchi T, et al: O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. Science 327: 88-92, 2010. |
| References_xml | – reference: 7) Kobayashi K, et al: An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394: 388-392, 1998. – reference: 3) Mendell JR, et al: Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol 74: 637-647, 2013. – reference: 4) Welch EM, et al: PTC124 targets genetic disorders caused by nonsense mutations. Nature 447: 87-91, 2007. – reference: 5) Bogdanovich S, et al: Functional improvement of dystrophic muscle by myostatin blockade. Nature 420: 418-421, 2002. – reference: 6) Malicdan MC, et al: Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model. Nat Med 15: 690-695, 2009. – reference: 9) Inamori K, et al: Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE. Science 335: 93-96, 2012. – reference: 10) Taniguchi-Ikeda M, et al: Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. Nature 478: 127-131, 2011. – reference: 2) 金川 基: ジストログリカンの糖鎖機能と筋ジストロフィー. 生化学 86: 452-463, 2014. – reference: 8) Yoshida-Moriguchi T, et al: O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. Science 327: 88-92, 2010. – reference: 1) GeneTable of Neuromuscular Disorders. http://www.musclegenetable.fr |
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| SubjectTerms | Duchenne型筋ジストロフィー アンチセンス治療 リードスルー治療 福山型筋ジストロフィー |
| Title | 2．筋ジストロフィーの分子機構と治療戦略 |
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