Article

Structural and Functional Characterization of N-Glycanase-1 Pathogenic Variants

2025-06-11

Abstract excerpt

NGLY1 deficiency is a congenital disorder of deglycosylation, caused by pathogenic variants of the NGLY1 gene. It manifests as global developmental delay, hypo- or alacrima, hypotonia, and a primarily hyperkinetic movement disorder. The NGLY1 enzyme is involved in deglycosylation of misfolded N-glycosylated proteins before their proteasomal degradation, and in the activation of transcription factors that control t...

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Literature Corpus work: 8a61375c-0160-51ea-8e9c-d9c1c7970400
DOI: 10.20944/preprints202506.0814.v1

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