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Synaptic defects in spinal muscular atrophy animal models
Author(s) -
TorresBenito Laura,
Ruiz Rocío,
Tabares Lucía
Publication year - 2012
Publication title -
developmental neurobiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.716
H-Index - 129
eISSN - 1932-846X
pISSN - 1932-8451
DOI - 10.1002/dneu.20912
Subject(s) - spinal muscular atrophy , smn1 , biology , motor neuron , neuroscience , axoplasmic transport , synapse , spinal cord , genetics , gene
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