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

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

Orphanet journal of rare diseases - 20 Oct 2013

de la Morena-Barrio Maria E, Hernández-Caselles Trinidad, Corral Javier, García-López Roberto, Martínez-Martínez Irene, Pérez-Dueñas Belen, Altisent Carmen, Sevivas Teresa, Kristensen Soren R, Guillén-Navarro Encarna, Miñano Antonia, Vicente Vicente, Jaeken Jaak, Lozano Maria L

Abstract excerpt

BACKGROUND: Mutations in PMM2 impair phosphomannomutase-2 activity and cause the most frequent congenital disorder of glycosylation, PMM2-CDG. Mannose-1-phosphate, that is deficient in this disorder, is also implicated in the biosynthesis of glycosylphosphatidyl inositol (GPI) anchors. OBJECTIVE: To evaluate whether GPI-anchor and GPI-anchored proteins are defective in PMM2-CDG patients. METHODS: The expression...

Read the complete abstract on PubMed

Topics

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

Share to Chromatography, High Pressure Liquid
Share to Congenital Disorders of Glycosylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Flow Cytometry

Share to Glycosylphosphatidylinositols

Share to Infant

Share to Monocytes

Share to Neutrophils

Share to Phosphotransferases (Phosphomutases)

Source

Open in PubMed Open full text

Identifiers

PMID: 24139637
DOI: 10.1186/1750-1172-8-170
PMCID: PMC4016514

Genes

GPI
PMM2

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

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.PMID 24139637Read ↗

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).Semantic proximity Read ↗

In vitro treatment with liposome-encapsulated Mannose-1-phosphate restores N-glycosylation in PMM2-CDG patient-derived fibroblasts.Semantic proximity Read ↗

The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.Semantic proximity Read ↗

Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia.Semantic proximity Read ↗

Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.Semantic proximity Read ↗

A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.Semantic proximity Read ↗

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.Semantic proximity Read ↗

[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].Semantic proximity Read ↗

Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.Semantic proximity Read ↗

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.Semantic proximity Read ↗

PMM2-CDG: phenotype and genotype in four affected family members.Semantic proximity Read ↗

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).Semantic proximity Read ↗

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