An Hspa8 variant is a shocking modifier of spinal muscular atrophy in mice.
| Autor: | Blatnik AJ 3rd; Department of Biological Chemistry & Pharmacology, Wexner Medical Center, The Ohio State University, Columbus, OH 43210, USA. Electronic address: blatnik.12@osu.edu., Macleod Burghes AH; Department of Biological Chemistry & Pharmacology, Wexner Medical Center, The Ohio State University, Columbus, OH 43210, USA. Electronic address: burghes.1@osu.edu. |
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| Jazyk: | angličtina |
| Zdroj: | Neuron [Neuron] 2023 May 03; Vol. 111 (9), pp. 1349-1350. |
| DOI: | 10.1016/j.neuron.2023.03.025 |
| Abstrakt: | 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. Competing Interests: 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. (Copyright © 2023 Elsevier Inc. All rights reserved.) |
| Databáze: | MEDLINE |
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