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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 2/2012

Open Access 01-11-2012 | Meeting abstract

Exon skipping for DMD

Authors: Annemieke Aartsma-Rus, Jan JGM Verschuuren, Giles V Campion, Gert-jan B van Ommen, Judith CT van Deutekom

Published in: Orphanet Journal of Rare Diseases | Special Issue 2/2012

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Excerpt

Duchenne muscular dystrophy (DMD) is a severe, progressive muscle-wasting disorder, while Becker muscular dystrophy (BMD) is milder muscle disease [1]. Both are caused by mutations in dystrophin, a protein, which stabilizes muscle fibers during contraction by linking muscle actin to the extracellular matrix. In DMD patients mutations disrupt the open reading frame, generating prematurely truncated, nonfunctional dystrophins [2]. In BMD patients, mutations maintain the reading frame allowing production of internally deleted, partly functional dystrophins. …
Literature
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Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM: An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics. 1988, 2: 90-5. 10.1016/0888-7543(88)90113-9.CrossRefPubMed
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Aartsma-Rus A: Antisense-mediated modulation of splicing: Therapeutic implications for duchenne muscular dystrophy. RNA Biol. 2010, 7:
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Aartsma-Rus A, Fokkema I, Verschuuren J, Ginjaar I, van Deutekom J, van Ommen GJ: Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat. 2009, 30: 293-299. 10.1002/humu.20918.CrossRefPubMed
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van Deutekom JC, Janson AA, Ginjaar IB, Frankhuizen WS, Aartsma-Rus A, Bremmer-Bout M: Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med. 2007, 357: 2677-2686. 10.1056/NEJMoa073108.CrossRefPubMed
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Heemskerk H, de Winter C, van Kuik P, Heuvelmans N, Sabatelli P, Rimessi P: Preclinical PK and PD Studies on 2'-O-Methyl-phosphorothioate RNA Antisense Oligonucleotides in the mdx Mouse Model. Mol Ther. 2010
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Goemans NM, Tulinius M, van den Akker JT, Burm BE, Ekhart PF, Heuvelmans N: Systemic Administration of PRO051 in Duchenne's Muscular Dystrophy. N Engl J Med. 2011, 364: 1513-1522. 10.1056/NEJMoa1011367.CrossRefPubMed
Metadata
Title
Exon skipping for DMD
Authors
Annemieke Aartsma-Rus
Jan JGM Verschuuren
Giles V Campion
Gert-jan B van Ommen
Judith CT van Deutekom
Publication date
01-11-2012
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue Special Issue 2/2012
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/1750-1172-7-S2-A20

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