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

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.

American journal of medical genetics. Part A - 1 Dec 2016

Wheeler Patricia G, Ng Bobby G, Sanford Laura, Sutton V Reid, Bartholomew Dennis W, Pastore Matthew T, Bamshad Michael J, Kircher Martin, Buckingham Kati J, Nickerson Deborah A, Shendure Jay, Freeze Hudson H

Abstract excerpt

Increasing numbers of congenital disorders of glycosylation (CDG) have been reported recently resulting in an expansion of the phenotypes associated with this group of disorders. SRD5A3 codes for polyprenol reductase which converts polyprenol to dolichol. This is a major pathway for dolichol biosynthesis for N-glycosylation, O-mannosylation, C-mannosylation, and GPI anchor synthesis. We present the features of...

Read the complete abstract on PubMed

Topics

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

Share to 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Share to Congenital Disorders of Glycosylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycosylation

Share to Homozygote

Share to Membrane Proteins

Share to Tretinoin

Source

Open in PubMed Open full text

Identifiers

PMID: 27480077
DOI: 10.1002/ajmg.a.37875
PMCID: PMC5115938

Genes

GPI

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

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.PMID 27480077Read ↗

SRD5A3-CDG: a patient with a novel mutation.Semantic proximity Read ↗

Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosologySemantic proximity Read ↗

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.Semantic proximity Read ↗

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.Semantic proximity Read ↗

SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card.Semantic proximity Read ↗

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.Semantic proximity Read ↗

Clinical, biochemical and genetic characterization of an Egyptian patient with SRD5A3-congenital glycosylation disorder.Semantic proximity Read ↗

Congenital disorders of glycosylationSemantic proximity Read ↗

Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.Semantic proximity Read ↗

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.Semantic proximity Read ↗

Congenital disorders of glycosylation: Still "hot" in 2020.Semantic proximity Read ↗

Congenital disorders of glycosylation (CDG): state of the art in 2022.Semantic proximity Read ↗

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