Peer-reviewed veterinary case report
An Hspa8 variant is a shocking modifier of spinal muscular atrophy in mice.
- Journal:
- Neuron
- Year:
- 2023
- Authors:
- Blatnik, Anton James & Macleod Burghes, Arthur Harry
- Affiliation:
- Department of Biological Chemistry & Pharmacology · United States
- Species:
- rodent
Abstract
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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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/37141858/