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

Neuron(2023)

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摘要
In this issue of Neuron, Kim et al. 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.
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关键词
spinal muscular atrophy,hspa8 variant,mice
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