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

Anton James Blatnik 3rd; Arthur Harry Macleod Burghes

doi:10.1016/j.neuron.2023.03.025

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

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

Authors

Anton James Blatnik 3rd¹, Arthur Harry Macleod Burghes²

Affiliations

¹ Department of Biological Chemistry & Pharmacology, Wexner Medical Center, The Ohio State University, Columbus, OH 43210, USA. Electronic address: blatnik.12@osu.edu.
² Department of Biological Chemistry & Pharmacology, Wexner Medical Center, The Ohio State University, Columbus, OH 43210, USA. Electronic address: burghes.1@osu.edu.

PMID: 37141858
DOI: 10.1016/j.neuron.2023.03.025

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.

Publication types

Comment

MeSH terms

Animals
Disease Models, Animal
Mice
Muscular Atrophy, Spinal* / genetics
Muscular Atrophy, Spinal* / metabolism
Neurons / metabolism
Phenotype
RNA Splicing
Survival of Motor Neuron 1 Protein / genetics
Survival of Motor Neuron 1 Protein / metabolism

Substances

Survival of Motor Neuron 1 Protein
Hspa8 protein, mouse