Brain : a journal of neurology
Translation of GGC repeats into a toxic polyglycine protein in oculopharyngodistal myopathy type 2.
Kexin Jiao, Xinyu Chen, Mengye Cao, Jialong Zhang, Xingyu Xia, Xinyu Gu, Xilu Wang, Huahua Zhong, Dongyue Yue, Mingshi Gao, Nachuan Cheng, Sushan Luo, Wenbo Yu, Weijun Pan, Chongbo Zhao
Published: 202510.1093/brain/awaf390
Abstract
GGC repeat expansions in the 5' untranslated region (UTR) of the GIPC1 gene have been implicated in the pathogenesis of oculopharyngodistal myopathy type 2 (OPDM2).To investigate the underlying mechanism, we generated a series of reporter constructs…
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