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....

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2017
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PNAS Plus
Acesso em linha: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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