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Article

Proteomic assessment of a cell model of spinal muscular atrophy

8 Mar 2011

Abstract excerpt

BACKGROUND: Deletion or mutation(s) of the survival motor neuron 1 (SMN1) gene causes spinal muscular atrophy (SMA), a neuromuscular disease characterized by spinal motor neuron death and muscle paralysis. Complete loss of the SMN protein is embryonically lethal, yet reduced levels of this protein result in selective death of motor neurons. Why motor neurons are specifically targeted by SMN deficiency remains to...

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PMID: 21385431
DOI: 10.1186/1471-2202-12-25

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