Article

A full spectrum PNGase activity analysis of R328 mutations on NGLY1

2022-04-07

Abstract excerpt

In humans, N-glycanase 1 (NGLY1; Peptide: N-glycanase, PNGase) is responsible for the deglycosylation of misfolded glycoproteins. Pathogenic mutations in NGLY1 cause a clinical condition known as congenital disorder of deglycosylation (NGLY1-CDDG), a rare autosomal recessive disease first reported in 2012. Although NGLY1-CDDG was diagnosed through whole-exome or whole-genome sequencing and by evaluating the expre...

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Literature Corpus work: 0200b192-0c6d-5dc4-8d7f-b51ad89a88a9
DOI: 10.1101/2022.04.07.487431

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