Synaptic defects in spinal muscular atrophy animal models

被引：30

作者：

Torres-Benito, Laura ^{[1
]}

Ruiz, Rocio ^{[1
]}

Tabares, Lucia ^{[1
]}

机构：

[1] Univ Seville, Sch Med, Dept Med Physiol & Biophys, E-41009 Seville, Spain

来源：

DEVELOPMENTAL NEUROBIOLOGY | 2012年 / 72卷 / 01期

关键词：

synapses; neuromuscular junction; cytoskeleton; neurodegeneration; spinal muscular atrophy; SURVIVAL MOTOR-NEURON; ACTIN MESSENGER-RNA; SMN PROTEIN; MITOCHONDRIAL DYSFUNCTION; NEUROMUSCULAR-JUNCTIONS; SINGLE NUCLEOTIDE; GROWTH CONES; MOUSE MODELS; GENE-PRODUCT; COMPLEX;

D O I：

10.1002/dneu.20912

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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 beta-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. (c) 2011 Wiley Periodicals, Inc. Develop Neurobiol 72: 126-133, 2012

引用

页码：126 / 133

页数：8

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