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An Hspa8 variant is a shocking modifier of spinal muscular atrophy in mice
Anton James Blatnik1, Arthur Harry Macleod Burghes1
1Department of Biological Chemistry & Pharmacology, Wexner Medical Center, The Ohio State University, Columbus, OH 43210, USA.
Neuron
|May 4, 2023
Abstract:
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.

