Ontology highlight
ABSTRACT:
SUBMITTER: Chen JH
PROVIDER: S-EPMC4905677 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
Chen Jian-Huan JH Huang Chukai C Zhang Bining B Yin Shengjie S Liang Jiajian J Xu Ciyan C Huang Yuqiang Y Cen Ling-Ping LP Ng Tsz-Kin TK Zheng Ce C Zhang Shaobin S Chen Haoyu H Pang Chi-Pui CP Zhang Mingzhi M
PLoS genetics 20160613 6
Cataracts are a significant public health problem with no proven methods for prevention. Discovery of novel disease mechanisms to delineate new therapeutic targets is of importance in cataract prevention and therapy. Herein, we report that mutations in the RagA GTPase (RRAGA), a key regulator of the mechanistic rapamycin complex 1 (mTORC1), are associated with autosomal dominant cataracts. We performed whole exome sequencing in a family with autosomal dominant juvenile-onset cataracts, and ident ...[more]