Article
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
Human molecular genetics - 15 Apr 2016
Xu Mingchu, Yamada Takeyuki, Sun Zixi, Eblimit Aiden, Lopez Irma, Wang Feng, Manya Hiroshi, Xu Shan, Zhao Li, Li Yumei, Kimchi Adva, Sharon Dror, Sui Ruifang, Endo Tamao, Koenekoop Robert K, Chen Rui
Abstract excerpt
A growing number of human diseases have been linked to defects in protein glycosylation that affects a wide range of organs. Among them, O-mannosylation is an unusual type of protein glycosylation that is largely restricted to the muscular and nerve system. Consistently, mutations in genes involved in the O-mannosylation pathway result in infantile-onset, severe developmental defects involving skeleton muscle,...
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