Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice-Reference-Cited by-同舟云学术

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

Published:2014-08-10 Issue:9 Volume:20 Page:992-1000
ISSN:1078-8956
Container-title:Nature Medicine
language:en
Short-container-title:Nat Med

Author:

Wein Nicolas,Vulin Adeline,Falzarano Maria S,Szigyarto Christina Al-Khalili,Maiti Baijayanta,Findlay Andrew,Heller Kristin N,Uhlén Mathias,Bakthavachalu Baskar,Messina Sonia,Vita Giuseppe,Passarelli Chiara,Passarelli Simona,Bovolenta Matteo,Neri Marcella,Gualandi Francesca,Wilton Steve D,Rodino-Klapac Louise R,Yang Lin,Dunn Diane M,Schoenberg Daniel R^ORCID,Weiss Robert B,Howard Michael T,Ferlini Alessandra,Flanigan Kevin M

Publisher

Springer Science and Business Media LLC

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

http://www.nature.com/articles/nm.3628.pdf

Reference72 articles.

1. Monaco, A.P. Dystrophin, the protein product of the Duchenne/Becker muscular dystrophy gene. Trends Biochem. Sci. 14, 412–415 (1989).

2. Flanigan, K.M. et al. DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. Neuromuscul. Disord. 19, 743–748 (2009).

3. Flanigan, K.M. et al. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum. Mutat. 30, 1657–1666 (2009).

4. Gurvich, O.L. et al. DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. Hum. Mutat. 30, 633–640 (2009).

5. Witting, N., Duno, M. & Vissing, J. Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2. Neuromuscul. Disord. 23, 25–28 (2013).

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