Associated Papers
Structure and assembly of the dystrophin glycoprotein complex.
Wan L et al.
Nature, 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
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM3_ESM.xlsx › Feuil1
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
Clinical and Genetic Characteristics of Leukodystrophies in Africa.
Amin M et al.
Journal of Neurosciences in Rural Practice, 2017
Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane.
Yoshida-Moriguchi T et al.
Glycobiology, 2015
Genetic Engineering of Dystroglycan in Animal Models of Muscular Dystrophy.
Sciandra F et al.
Biomed Research International, 2015
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
Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy.
Geis T et al.
Neurogenetics, 2013
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