SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy

Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 during pre–messenger RNA (mRNA) processing. Alth...

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Publicat a:J Cell Biol
Autors principals: Pagliarini, Vittoria, Pelosi, Laura, Bustamante, Maria Blaire, Nobili, Annalisa, Berardinelli, Maria Grazia, D’Amelio, Marcello, Musarò, Antonio, Sette, Claudio
Format: Artigo
Idioma:Inglês
Publicat: The Rockefeller University Press 2015
Matèries:
Research Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4602033/
https://ncbi.nlm.nih.gov/pubmed/26438828
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1083/jcb.201502059
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