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Dev Neurobiol. 2012 Jan;72(1):126-33. doi: 10.1002/dneu.20912.

Synaptic defects in spinal muscular atrophy animal models.

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Department of Medical Physiology and Biophysics, School of Medicine, University of Seville, 41009 Seville, Spain.


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.

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