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

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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Bibliographic Details
Main Authors: Maia Lanfranco, Neville Vassallo, Ruben J. Cauchi
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-06-01
Series:Frontiers in Molecular Biosciences
Subjects:
survival motor neuron
SMN-Gemins complex
snRNP assembly
missplicing
motor neuron disease (MND)
amyotrophic lateral sclerosis (ALS)
Online Access:http://journal.frontiersin.org/article/10.3389/fmolb.2017.00041/full

Internet

http://journal.frontiersin.org/article/10.3389/fmolb.2017.00041/full

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