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

No evidence for a role of cosmc-chaperone mutations in European IgA nephropathy patients.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jan 2009

Malycha Friederike, Eggermann Thomas, Hristov Mihail, Schena Francesco Paolo, Mertens Peter R, Zerres Klaus, Floege Jürgen, Eitner Frank

Abstract excerpt

BACKGROUND: Altered IgA1 galactosylation is involved in the pathogenesis of IgA nephropathy (IgAN). The galactosyltransferase core-1 beta3-galactosyltransferase-1 (C1GALT1) and its chaperone cosmc are specifically required for O-galactosylation of the IgA1 hinge region. Mutations in the cosmc gen...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, X
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Europe

Share to Gene Frequency

Share to Glomerulonephritis, IGA

Share to Molecular Chaperones

Share to Mosaicism

Share to Young Adult

Source

Identifiers

PMID: 18840896
DOI: 10.1093/ndt/gfn538

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18840896-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

No evidence for a role of cosmc-chaperone mutations in European IgA nephropathy patients.PMID 18840896Read ↗

Germline C1GALT1C1 Mutation Causes a Multisystemic Chaperonopathy with Global Deficiency of Core 1-derived O-GlycosylationSemantic proximity Read ↗

A unique molecular chaperone Cosmc required for activity of the mammalian core 1 beta 3-galactosyltransferase.Semantic proximity Read ↗

Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy.Semantic proximity Read ↗

The Genetics of IgA Nephropathy: An Overview from Western CountriesSemantic proximity Read ↗

DNA Methylation in Cosmc Promoter Region and Aberrantly Glycosylated IgA1 Associated with Pediatric IgA NephropathySemantic proximity Read ↗

Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.Semantic proximity Read ↗

Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy.Semantic proximity Read ↗

External suppression causes the low expression of the Cosmc gene in IgA nephropathy.Semantic proximity Read ↗

The Genetics of IgA Nephropathy: An Overview from ChinaSemantic proximity Read ↗

Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1.Semantic proximity Read ↗

Cosmc is an X-linked inflammatory bowel disease risk gene that spatially regulates gut microbiota and contributes to sex-specific risk.Semantic proximity Read ↗

Protein glycosylation: chaperone mutation in Tn syndrome.Semantic proximity Read ↗

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