脊髓性肌萎缩
神经科学
表型
RNA剪接
萎缩
生物
遗传学
基因
核糖核酸
作者
Anton J. Blatnik,Arthur Harry Macleod Burghes
出处
期刊:Neuron
[Elsevier]
日期:2023-05-01
卷期号:111 (9): 1349-1350
被引量:1
标识
DOI:10.1016/j.neuron.2023.03.025
摘要
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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