Varaico: Literature-Extracted Genetic Variants

Gene:DAG1
Variant:p.T192M
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DAG1

NM_004393.6:p.T192M

Associated Papers

α-Dystroglycan at the ECM-Cell crossroad: emerging functions of its N-terminal domain.

Bigotti MG et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2026

Xylose phosphatase activity of dystroglycan self-regulates its receptor function.

Chandel I et al.

Biorxiv : the Preprint Server for Biology, 2025

Live cell optical super-resolution microscopy of dystroglycan mutants as a model for dystroglycanopathies in multiple cell lines.

Sciandra F et al.

Frontiers in Molecular Biosciences, 2025

Molecular basis of proteolytic cleavage regulation by the extracellular matrix receptor dystroglycan.

Anderson MJM et al.

Structure (london, England : 1993), 2024

The missense mutation C667F in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization.

Tan RL et al.

Disease Models & Mechanisms, 2024

Gene-editing, immunological and iPSCs based therapeutics for muscular dystrophy.

Singh S et al.

European Journal of Pharmacology, 2021

Protective role for the N-terminal domain of α-dystroglycan in Influenza A virus proliferation.

de Greef JC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

A molecular overview of the primary dystroglycanopathies.

Brancaccio A

Journal of Cellular and Molecular Medicine, 2019

A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein.

Signorino G et al.

Human Mutation, 2018

α-Dystroglycan hypoglycosylation affects cell migration by influencing β-dystroglycan membrane clustering and filopodia length: A multiscale confocal microscopy analysis.

Palmieri V et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017

An evaluation of the evolution of the gene structure of dystroglycan.

Brancaccio A et al.

Bmc Research Notes, 2017

The effect of the pathological V72I, D109N and T190M missense mutations on the molecular structure of α-dystroglycan.

Covaceuszach S et al.

Plos One, 2017

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.

Bhattacharya S et al.

Computational Biology and Chemistry, 2016

Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane.

Yoshida-Moriguchi T et al.

Glycobiology, 2015

The Structure of the T190M Mutant of Murine α-Dystroglycan at High Resolution: Insight into the Molecular Basis of a Primary Dystroglycanopathy.

Bozzi M et al.

Plos One, 2015

Genetic Engineering of Dystroglycan in Animal Models of Muscular Dystrophy.

Sciandra F et al.

Biomed Research International, 2015

Analyses of the presence of mutations in Dystrophin protein to predict their relative influences in the onset of Duchenne Muscular Dystrophy.

Bhattacharya S et al.

Cellular Signalling, 2014

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

Bhattacharya S et al.

Gene, 2014

Insights from molecular dynamics simulations: structural basis for the V567D mutation-induced instability of zebrafish alpha-dystroglycan and comparison with the murine model.

Pirolli D et al.

Plos One, 2014

Increased levels of expression of dystroglycan may protect the heart.

Brancaccio A

Neuromuscular Disorders : Nmd, 2013

Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy.

Geis T et al.

Neurogenetics, 2013

Glial scaffold required for cerebellar granule cell migration is dependent on dystroglycan function as a receptor for basement membrane proteins.

Nguyen H et al.

Acta Neuropathologica Communications, 2013

The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy.

Rahimov F et al.

The Journal of Cell Biology, 2013

O-Mannose and O-N-acetyl galactosamine glycosylation of mammalian α-dystroglycan is conserved in a region-specific manner.

Gomez Toledo A et al.

Glycobiology, 2012

Dystroglycan and dystroglycanopathies: report of the 187th ENMC Workshop 11-13 November 2011, Naarden, The Netherlands.

Brown SC et al.

Neuromuscular Disorders : Nmd, 2012

A dystroglycan mutation associated with limb-girdle muscular dystrophy.

Hara Y et al.

The New England Journal of Medicine, 2011

An immunological analysis of dystroglycan subunits: lessons learned from a small cohort of non-congenital dystrophic patients.

Pavoni E et al.

The Open Neurology Journal, 2011

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