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

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).

The Journal of clinical investigation - 1 Dec 2001

Kranz C, Denecke J, Lehrman M A, Ray S, Kienz P, Kreissel G, Sagi D, Peter-Katalinic J, Freeze H H, Schmid T, Jackowski-Dohrmann S, Harms E, Marquardt T

Abstract excerpt

We describe a new congenital disorder of glycosylation, CDG-If. The patient has severe psychomotor retardation, seizures, failure to thrive, dry skin and scaling with erythroderma, and impaired vision. CDG-If is caused by a defect in the gene MPDU1, the human homologue of hamster Lec35, and is the first disorder to affect the use, rather than the biosynthesis, of donor substrates for lipid-linked...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Blood Protein Electrophoresis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to CHO Cells

Share to Congenital Disorders of Glycosylation

Share to Cricetinae

Share to Glycosylation

Share to Oligosaccharides

Share to Repressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 11733556
DOI: 10.1172/JCI13635
PMCID: PMC200991

Genes

MPDU1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).PMID 11733556Read ↗

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.Semantic proximity Read ↗

Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.Semantic proximity Read ↗

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.Semantic proximity Read ↗

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.Semantic proximity Read ↗

Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.Semantic proximity Read ↗

Congenital disorders of glycosylation: a booming chapter of pediatrics.Semantic proximity Read ↗

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.Semantic proximity Read ↗

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.Semantic proximity Read ↗

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)Semantic proximity Read ↗

Congenital disorder of glycosylation (CDG) type Ie. A new patient.Semantic proximity Read ↗

Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient.Semantic proximity Read ↗

Congenital disorder of glycosylation-Ic: case report and genetic defect.Semantic proximity Read ↗

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