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Synaptic defects in spinal muscular atrophy animal models

✍ Scribed by Laura Torres-Benito; Rocío Ruiz; Lucía Tabares

Publisher
Wiley (John Wiley & Sons)
Year
2011
Tongue
English
Weight
180 KB
Volume
72
Category
Article
ISSN
1932-8451

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✦ Synopsis

Abstract

Proximal spinal muscular atrophy, the most frequent genetic cause of childhood lethality, is caused by homozygous loss or mutation of the SMN1 gene on human chromosome 5, which codes for the survival motor neuron (SMN) protein. SMN plays a role in the assembly of small nuclear ribonucleoproteins and, additionally, in synaptic function. SMN deficiency produces defects in motor neuron β‐actin mRNA axonal transport, neurofilament dynamics, neurotransmitter release, and synapse maturation. The underlying molecular mechanisms and, in particular, the role of the cytoskeleton on the pathogenesis of this disease are starting to be revealed. © 2011 Wiley Periodicals, Inc. Develop Neurobiol 72: 126–133, 2012

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