Ontology highlight
ABSTRACT:
SUBMITTER: Xu M
PROVIDER: S-EPMC4805308 | biostudies-literature | 2016 Apr
REPOSITORIES: biostudies-literature
Xu Mingchu M Yamada Takeyuki T Sun Zixi Z Eblimit Aiden A Lopez Irma I Wang Feng F Manya Hiroshi H Xu Shan S Zhao Li L Li Yumei Y Kimchi Adva A Sharon Dror D Sui Ruifang R Endo Tamao T Koenekoop Robert K RK Chen Rui R
Human molecular genetics 20160128 8
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, brain and eye, such as the muscle-eye-brain disease (MIM no. 253280). However, the fun ...[more]