Eyes shut homolog (EYS) interacts with matriglycan of O-mannosyl glycans whose deficiency results in EYS mislocalization and degeneration of photoreceptors

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...

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Udgivet i:Sci Rep
Main Authors: Liu, Yu, Yu, Miao, Shang, Xuanze, Nguyen, My Hong Hoai, Balakrishnan, Shanmuganathan, Sager, Rachel, Hu, Huaiyu
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2020
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7210881/
https://ncbi.nlm.nih.gov/pubmed/32385361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-64752-4
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