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

Hypoglycosylation of dystroglycan due to T192M mutation: a molecular insight behind the fact.

Gene - 1 Mar 2014

Bhattacharya Simanti, Das Amit, Ghosh Semanti, Dasgupta Rakhi, Bagchi Angshuman

Abstract excerpt

Abnormal glycosylation of dystroglycan (DG), a transmembrane glycoprotein, results in a group of diseases known as dystroglycanopathy. A severe dystroglycanopathy known as the limb girdle disease MDDGC9 [OMIM: 613818] occurs as a result of hypoglycosylation of alpha subunit of DG. Reasons behind this has been traced back to a point mutation (T192M) in DG that leads to weakening of interactions of DG protein with...

Read the complete abstract on PubMed

Topics

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

Share to Dystroglycans
Share to Glycosylation
Share to Hydrophobic and Hydrophilic Interactions

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Laminin

Share to Models, Molecular

Share to Molecular Docking Simulation

Share to Muscular Dystrophies, Limb-Girdle

Share to Protein Conformation

Source

Identifiers

PMID: 24361964
DOI: 10.1016/j.gene.2013.11.071

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

Hypoglycosylation of dystroglycan due to T192M mutation: a molecular insight behind the fact.PMID 24361964Read ↗

In-silico structural analysis of E509K mutation in LARGE and T192M mutation in Alpha Dystroglycan in the inhibition of glycosylation of Alpha Dystroglycan by LARGE.Semantic proximity Read ↗

The inside and out of dystroglycan post-translational modification.Semantic proximity Read ↗

Dystroglycan: from biosynthesis to pathogenesis of human diseaseSemantic proximity Read ↗

Dystroglycanopathy: From Elucidation of Molecular and Pathological Mechanisms to Development of Treatment MethodsSemantic proximity Read ↗

The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophySemantic proximity Read ↗

A dystroglycan mutation associated with limb-girdle muscular dystrophy.Semantic proximity Read ↗

The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation.Semantic proximity Read ↗

Protein glycosylation in disease: new insights into the congenital muscular dystrophies.Semantic proximity Read ↗

Glycobiology of α-dystroglycan and muscular dystrophy.Semantic proximity Read ↗

Glycosyltransferase POMGNT1 deficiency affects N-cadherin-mediated cell-cell adhesionSemantic proximity Read ↗

Protein O-mannosylation in animal development and physiology: from human disorders to Drosophila phenotypes.Semantic proximity Read ↗

Direct Mapping of Additional Modifications on Phosphorylated O-glycans of α-Dystroglycan by Mass Spectrometry Analysis in Conjunction with Knocking Out of Causative Genes for Dystroglycanopathy.Semantic proximity Read ↗

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