Artículo
Synaptic defects in spinal muscular atrophy animal models
Autor/es | Torres-Benito, Laura
Ruiz Laza, Rocío Tabares, Lucía |
Departamento | Universidad de Sevilla. Departamento de Bioquímica y Biología Molecular Universidad de Sevilla. Departamento de Fisiología Médica y Biofísica |
Fecha de publicación | 2011 |
Fecha de depósito | 2023-05-24 |
Publicado en |
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Resumen | 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) ... 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 b-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. |
Agencias financiadoras | Ministerio de Ciencia e Innovación. España Junta de Andalucía |
Identificador del proyecto | BFU2010-21648
P09-CVI-4862 |
Cita | Torres-Benito, L., Ruiz Laza, R. y Tabares, L. (2011). Synaptic defects in spinal muscular atrophy animal models. DEVELOPMENTAL NEUROBIOLOGY, 72 (1), 126-133. https://doi.org/10.1002/dneu.20912. |
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