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Article

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.

European journal of medical genetics - 1 Jan 2015

Caglayan Ahmet Okay, Comu Sinan, Baranoski Jacob F, Parman Yesim, Kaymakçalan Hande, Akgumus Gozde Tugce, Caglar Caner, Dolen Duygu, Erson-Omay Emine Zeynep, Harmanci Akdes Serin, Mishra-Gorur Ketu, Freeze Hudson H, Yasuno Katsuhito, Bilguvar Kaya, Gunel Murat

Abstract excerpt

N-glycanase 1 (NGLY1) is a conserved enzyme that is responsible for the deglycosylation of misfolded N-glycosylated proteins in the cytoplasm prior to their proteasome-mediated degradation. Disruption of this degradation process has been associated with various neurologic diseases including amyotrophic lateral sclerosis and Parkinson's disease. Here, we describe two siblings with neuromotor impairment, apparent...

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Source

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Identifiers

PMID: 25220016
DOI: 10.1016/j.ejmg.2014.08.008
PMCID: PMC4804755

Genes

NGLY1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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