Article

The biochemical basis of congenital disorders of glycosylation

2018-01-01

Abstract excerpt

The enzyme peptide: N-glycanase (EC 3.5.1.52) is an endoglycosidase which cleaves N-linked glycans from incorrectly folded glycoproteins exported from the endoplasmic reticulum during ER-associated degradation (ERAD). Clinical mutations in this enzyme (resulting in loss or decrease in function) are responsible for the rare congenital disorder termed N-GLY1. N-GLY1 disorder was first identified by next generation s...

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Literature Corpus work: c597ee08-4eeb-5631-bd91-5cb2ec64202a
DOI: 10.21954/ou.ro.0000e3ae

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