Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.

doi:10.1038/gim.2016.75

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Article

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2017

Lam Christina, Ferreira Carlos, Krasnewich Donna, Toro Camilo, 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

Abstract excerpt

PURPOSE: The cytosolic enzyme N-glycanase 1, encoded by NGLY1, catalyzes cleavage of the β-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). METHODS: Prospective natural history protocol. RESULTS: In 12 individuals ages 2 to 21 years with confirmed, biallelic,...

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PMID: 27388694
DOI: 10.1038/gim.2016.75
PMCID: PMC7477955

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NGLY1

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