Prospective Phenotyping of NGLY1-CDDG, the First Congenital Disorder of Deglycosylation

PURPOSE: The cytosolic enzyme N-glycanase 1, encoded by NGLY1, catalyzes cleavage of the beta-aspartyl glycosylamine bond of N-linked glycoproteins, releasing intact N-glycans from proteins bound for degradation. In this study, we describe the clinical spectrum of NGLY1 deficiency (NGLY1-CDDG). METH...

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Publié dans:Genet Med
Auteurs principaux: Lam, Christina, Ferreira, Carlos, Krasnewich, Donna, Toro, Camillo, Latham, Lea, Zein, Wadih M., Lehky, Tanya, Brewer, Carmen, Baker, Eva H., Thurm, Audrey, Farmer, Cristan A., Rosenzweig, Sergio D., Lyons, Jonathan J., Schreiber, John M., Gropman, Andrea, Lingala, Shilpa, Ghany, Marc G., Solomon, Beth, Macnamara, Ellen, Davids, Mariska, Stratakis, Constantine A., Kimonis, Virginia, Gahl, William A., Wolfe, Lynne
Format: Artigo
Langue:Inglês
Publié: 2016
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7477955/
https://ncbi.nlm.nih.gov/pubmed/27388694
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.75
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