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Pathological impact of SMN2 mis‐splicing in adult SMA mice

Abstract Loss‐of‐function mutations in SMN1 cause spinal muscular atrophy (SMA), a leading genetic cause of infant mortality. The related SMN2 gene expresses suboptimal levels of functional SMN protein, due to a splicing defect. Many SMA patients reach adulthood, and there is also adult‐onset (type...

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Autors principals: Kentaro Sahashi, Karen K. Y. Ling, Yimin Hua, John Erby Wilkinson, Tomoki Nomakuchi, Frank Rigo, Gene Hung, David Xu, Ya‐Ping Jiang, Richard Z. Lin, Chien‐Ping Ko, C. Frank Bennett, Adrian R. Krainer
Format: Artigo
Idioma:Inglês
Publicat: Springer Nature 2013-09-01
Col·lecció:EMBO Molecular Medicine
Matèries:
adult‐onset SMA
pathology
SMN2
spinal muscular atrophy
splicing
Accés en línia:https://doi.org/10.1002/emmm.201302567
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