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Spinal Muscular Atrophy: From Defective Chaperoning of snRNP Assembly to Neuromuscular Dysfunction

Spinal Muscular Atrophy (SMA) is a neuromuscular disorder that results from decreased levels of the survival motor neuron (SMN) protein. SMN is part of a multiprotein complex that also includes Gemins 2–8 and Unrip. The SMN-Gemins complex cooperates with the protein arginine methyltransferase 5 (PRM...

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Detalles Bibliográficos
Autores principales: Lanfranco, Maia, Vassallo, Neville, Cauchi, Ruben J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5463183/
https://www.ncbi.nlm.nih.gov/pubmed/28642865
http://dx.doi.org/10.3389/fmolb.2017.00041