Article
Eyes shut homolog (EYS) interacts with matriglycan of O-mannosyl glycans whose deficiency results in EYS mislocalization and degeneration of photoreceptors.
Scientific reports - 8 May 2020
Liu Yu, Yu Miao, Shang Xuanze, Nguyen My Hong Hoai, Balakrishnan Shanmuganathan, Sager Rachel, Hu Huaiyu
Abstract excerpt
Mutations in eyes shut homolog (EYS), a secreted extracellular matrix protein containing multiple laminin globular (LG) domains, and in protein O-mannose β1, 2-N-acetylglucosaminyl transferase 1 (POMGnT1), an enzyme involved in O-mannosyl glycosylation, cause retinitis pigmentosa (RP), RP25 and RP76, respectively. How EYS and POMGnT1 regulate photoreceptor survival is poorly understood. Since some LG...
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