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

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

NGLY1 deficiency is a congenital disorder of deglycosylation, caused by pathogenic variants of the <i>NGLY1</i> gene. It manifests as global developmental delay, hypo- or alacrima, hypotonia, and a primarily hyperkinetic movement disorder. The NGLY1 enzyme is involved in deglycosylation...

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Bibliographic Details
Main Authors: Antje Banning, Lukas Hoeren, Isis Atallah, Ralph Orczyk, David Jacquier, Diana Ballhausen, Ritva Tikkanen
Format: Article
Language:English
Published: MDPI AG 2025-07-01
Series:Cells
Subjects:
congenital disorders of deglycosylation
N-Glycosylation
developmental delay
ERAD
protein misfolding
proteasome
Online Access:https://www.mdpi.com/2073-4409/14/13/1036
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