Investigation of a Fused in Sarcoma Splicing Mutation in a Chinese Amyotrophic Lateral Sclerosis Patient.

Wanli Yang,Xi Chen, Yu Zhou,Xuelin Tang,Yimin Sun,Yi Dong,Hong Yang,Yan Chen,Ming Zhang

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques（2022）

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摘要

We identified a splicing mutation (c.1394-2delA, p. Gly466Valfs*14) in 1 out of 233 Chinese ALS patients. It caused abnormal RNA splicing, upregulated gene expression, truncated FUS translation, and cytosolic mislocalization. Our findings suggested that splice site mutation is rare in Chinese ALS patients and extended our knowledge of molecular mechanisms of the c.1394-2delA mutation.

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关键词

ALS,Cytoplasmic mislocalization,FUS,RNA splicing

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