An Hspa8 variant is a shocking modifier of spinal muscular atrophy in mice

In this issue of Neuron, Kim et al.1 show that an Hspa8 variant modifies disease phenotypes in a mouse model of spinal muscular atrophy. Hspa8 facilitates the correct folding of proteins, enhances SNARE assembly, and influences SMN2 splicing.

Automated summary

In this study, Kim et al. demonstrate that a variant of Hspa8 alters disease phenotypes in a mouse model of spinal muscular atrophy. Hspa8 plays a role in protein folding, SNARE assembly, and SMN2 splicing.