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. 2023 May 3;111(9):1349-1350.
doi: 10.1016/j.neuron.2023.03.025.

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

Anton James Blatnik 3rd  1 , Arthur Harry Macleod Burghes  2
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An Hspa8 variant is a shocking modifier of spinal muscular atrophy in mice

Anton James Blatnik 3rd et al. Neuron. .
Free article

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.

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Conflict of interest statement

Declaration of interests A.H.M.B. is a member of the scientific advisory board of Cure SMA. A.H.M.B. consults for Novartis.

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