PRRT2 frameshift mutation reduces its mRNA stability resulting loss of function in Paroxysmal Kinesigenic Dyskinesia

A heterozygous frameshift PRRT2 mutation (c.649_650InsC) has been identified as the major causative mutation in several paroxysmal disorders, including paroxysmal kinesigenic dyskinesia (PKD). Since PKD is an autosomal dominant disorder and since the frameshift mutations of PRRT2 may create a trunca...

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Pubblicato in:Biochem Biophys Res Commun
Autori principali: Pan, Yongcheng, Liu, Qiong, Zhang, Jennifer, Yang, Yang, Tian, Yun, Zeng, Junsheng, Yin, Peng, Mei, Lin, Xiong, Wen-cheng, Li, Xiao-Jiang, Li, Shihua, Tang, Beisha
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2019
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6981028/
https://ncbi.nlm.nih.gov/pubmed/31785815
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbrc.2019.11.025
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