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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Publicado no:Genet Med
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha: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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