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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Vydáno v:Proc Natl Acad Sci U S A
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2017
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PNAS Plus
On-line přístup: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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