Article
Oligodendrocyte development and CNS myelination are unaffected in a mouse model of severe spinal muscular atrophy.
Human molecular genetics - 15 Jan 2017
O'Meara Ryan W, Cummings Sarah E, De Repentigny Yves, McFall Emily, Michalski John-Paul, Deguise Marc-Olivier, Gibeault Sabrina, Kothary Rashmi
Abstract excerpt
The childhood neurodegenerative disease spinal muscular atrophy (SMA) is caused by loss-of-function mutations or deletions in the Survival Motor Neuron 1 (SMN1) gene resulting in insufficient levels of survival motor neuron (SMN) protein. Classically considered a motor neuron disease, increasing evidence now supports SMA as a multi-system disorder with phenotypes discovered in cortical neuron, astrocyte, and...
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