Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations.

American journal of medical genetics. Part A - 1 Apr 2015

Heeley Jennifer, Shinawi Marwan

Abstract excerpt

NGLY1-related disorder is a newly described autosomal recessive condition characterized by neurological, hepatic, ophthalmological findings and associated with dysmorphic features, constipation and scoliosis. It is caused by mutations in NGLY1, which encodes an enzyme, N-glycanase 1, involved in deglycosylation of glycoproteins, an essential step in the endoplasmic reticulum-associated degradation (ERAD) pathway....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Adolescent
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endoplasmic Reticulum Stress and Disease

Share to Genetics and Neurodevelopmental Disorders

Share to Mutation

Share to Pancreatic function and diabetes

Share to Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase

Source

Identifiers

PMID: 25707956
DOI: 10.1002/ajmg.a.36889

Genes

NGLY1

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations.PMID 25707956Read ↗

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.Semantic proximity Read ↗

NGLY1 Deficiency: A Rare Newly Described Condition with a Typical PresentationSemantic proximity Read ↗

NGLY1 deficiency: Novel variants and literature review.Semantic proximity Read ↗

Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.Semantic proximity Read ↗

NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology.Semantic proximity Read ↗

NGLY1 deficiency—A rare congenital disorder of deglycosylationSemantic proximity Read ↗

Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation.Semantic proximity Read ↗

NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.Semantic proximity Read ↗

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.Semantic proximity Read ↗

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.Semantic proximity Read ↗

Structural and Functional Characterization of N-Glycanase-1 Pathogenic VariantsSemantic proximity Read ↗

Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.