Modulating the endoplasmic reticulum stress response attenuates neurodegeneration in a Caenorhabditiselegans model of spinal muscular atrophy.

Abstract excerpt

Spinal muscular atrophy (SMA) is a devastating autosomal recessive neuromuscular disease resulting in muscle atrophy and neurodegeneration, and is the leading genetic cause of infant death. SMA arises when there are homozygous deletion mutations in the human SMN1 gene, leading to a decrease in corresponding SMN1 protein. Although SMN1 is expressed across multiple tissue types, much of the previous research into...

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