期刊
DEVELOPMENTAL NEUROBIOLOGY
卷 72, 期 1, 页码 126-133出版社
WILEY
DOI: 10.1002/dneu.20912
关键词
synapses; neuromuscular junction; cytoskeleton; neurodegeneration; spinal muscular atrophy
资金
- Spanish Ministry of Science and Innovation [BFU2010-21648]
- Junta de Andalucia [P09-CVI-4862]
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
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