SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage

Spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease, is the leading monogenic cause of infant mortality. Homozygous loss of the gene survival of motor neuron 1 (SMN1) causes the selective degeneration of lower motor neurons and subsequent atrophy of proximal skeletal muscles....

詳細記述

保存先:
書誌詳細
出版年:Proc Natl Acad Sci U S A
主要な著者: Jangi, Mohini, Fleet, Christina, Cullen, Patrick, Gupta, Shipra V., Mekhoubad, Shila, Chiao, Eric, Allaire, Norm, Bennett, C. Frank, Rigo, Frank, Krainer, Adrian R., Hurt, Jessica A., Carulli, John P., Staropoli, John F.
フォーマット: Artigo
言語:Inglês
出版事項: National Academy of Sciences 2017
主題:
PNAS Plus
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5373344/
https://ncbi.nlm.nih.gov/pubmed/28270613
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1613181114
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