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Article

Synaptotagmin-2, and -1, linked to neurotransmission impairment and vulnerability in Spinal Muscular Atrophy.

Human molecular genetics - 1 Nov 2016

Tejero Rocío, Lopez-Manzaneda Mario, Arumugam Saravanan, Tabares Lucía

Abstract excerpt

Spinal muscular atrophy (SMA) is the most frequent genetic cause of infant mortality. The disease is characterized by progressive muscle weakness and paralysis of axial and proximal limb muscles. It is caused by homozygous loss or mutation of the SMN1 gene, which codes for the Survival Motor Neuron (SMN) protein. In mouse models of the disease, neurotransmitter release is greatly impaired, but the molecular...

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Source

Identifiers

PMID: 28173138
DOI: 10.1093/hmg/ddw297

Genes

SMN1

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Synaptotagmin-2, and -1, linked to neurotransmission impairment and vulnerability in Spinal Muscular Atrophy.PMID 28173138Read ↗

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