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Article

New perspectives on the mutated NGLY1 enigma.

Medical hypotheses - 1 Nov 2015

Tickotsky-Moskovitz Nili

Abstract excerpt

The enzyme N-glycanase 1 (NGLY1) is considered a component of the endoplasmic reticulum-associated degradation (ERAD) machinery and clinical manifestations of its dysfunction include global developmental delay, a movement disorder, peripheral neuropathy, liver disorders, microcephaly, diminished reflexes and seizures. Although several mutations in NGLY1 have been identified, the relation between the defected...

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Source

Identifiers

PMID: 26228302
DOI: 10.1016/j.mehy.2015.07.019

Genes

NGLY1
FAF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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