Associated Papers
Impact of maternal compensation on developmental phenotypes in a zebrafish model of severe congenital muscular dystrophy.
Flannery KP et al.
Plos Genetics, 2026
Impact of maternal compensation on developmental phenotypes in a zebrafish model of severe congenital muscular dystrophy.
Flannery KP et al.
Biorxiv : the Preprint Server for Biology, 2025
Ribitol and ribose treatments differentially affect metabolism of muscle tissue in FKRP mutant mice.
Cataldi MP et al.
Scientific Reports, 2025
Ribitol treatment rescues dystroglycanopathy mice with common L276I mutation.
Wu B et al.
Plos One, 2025
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.
Chawla T et al.
Neurogenetics, 2024
Validation of a novel western blot assay to monitor patterns and levels of alpha dystroglycan in skeletal muscle of patients with limb girdle muscular dystrophies.
Rajasingham T et al.
Journal of Muscle Research and Cell Motility, 2024
Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF).
Ma K et al.
Biorxiv : the Preprint Server for Biology, 2024
Inhibitory CCK+ basket synapse defects in mouse models of dystroglycanopathy.
Jahncke JN et al.
Elife, 2024
Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation.
Lu QL et al.
Journal of Neuromuscular Diseases, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
Efficacy and muscle safety assessment of fukutin-related protein gene therapy.
Benasutti H et al.
Molecular Therapy. Methods & Clinical Development, 2023
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
Unnikrishnan G et al.
Journal of Neuromuscular Diseases, 2023
Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies.
Esapa CT et al.
Frontiers in Molecular Biosciences, 2023
Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG).
Brasil S et al.
International Journal of Molecular Sciences, 2022
FKRP directed fibronectin glycosylation: A novel mechanism giving insights into muscular dystrophies?
Boyd A et al.
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2022
CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model.
Tokuoka H et al.
Nature Communications, 2022
Sarcospan increases laminin-binding capacity of α-dystroglycan to ameliorate DMD independent of Galgt2.
Mamsa H et al.
Human Molecular Genetics, 2022
Ribitol dose-dependently enhances matriglycan expression and improves muscle function with prolonged life span in limb girdle muscular dystrophy 2I mouse model.
Wu B et al.
Plos One, 2022
Dystroglycanopathy: From Elucidation of Molecular and Pathological Mechanisms to Development of Treatment Methods.
Kanagawa M
International Journal of Molecular Sciences, 2021
A Journey with LGMD: From Protein Abnormalities to Patient Impact.
Georganopoulou DG et al.
The Protein Journal, 2021
A universal gene correction approach for FKRP-associated dystroglycanopathies to enable autologous cell therapy.
Dhoke NR et al.
Cell Reports, 2021
Fukutin-Related Protein: From Pathology to Treatments.
Ortiz-Cordero C et al.
Trends in Cell Biology, 2021
Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum.
Nerakh G et al.
Journal of Pediatric Genetics, 2021
Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy.
Fortunato F et al.
Journal of Clinical Medicine, 2021
Revertant Phenomenon in DMD and LGMD2I and Its Therapeutic Implications: A Review of Study Under Mentorship of Terrence Partridge.
Lu QL
Journal of Neuromuscular Diseases, 2021
Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice.
Brown SC et al.
Journal of Neuropathology and Experimental Neurology, 2020
The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes.
Mohamadian M et al.
The Journal of Gene Medicine, 2020
ISPD Overexpression Enhances Ribitol-Induced Glycosylation of α-Dystroglycan in Dystrophic FKRP Mutant Mice.
Cataldi MP et al.
Molecular Therapy. Methods & Clinical Development, 2020
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
Murphy LB et al.
Annals of Clinical and Translational Neurology, 2020
Efficient engraftment of pluripotent stem cell-derived myogenic progenitors in a novel immunodeficient mouse model of limb girdle muscular dystrophy 2I.
Azzag K et al.
Skeletal Muscle, 2020
A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α-dystroglycan.
Kim J et al.
Embo Reports, 2019
Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants.
Henriques SF et al.
Human Mutation, 2019
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.
van Tol W et al.
Clinical Chemistry, 2019
Demembranated skeletal and cardiac fibers produce less force with altered cross-bridge kinetics in a mouse model for limb-girdle muscular dystrophy 2i.
Fenwick AJ et al.
American Journal of Physiology. Cell Physiology, 2019
Metabolomics Analysis of Skeletal Muscles from FKRP-Deficient Mice Indicates Improvement After Gene Replacement Therapy.
Vannoy CH et al.
Scientific Reports, 2019
The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy.
Nickolls AR et al.
Disease Models & Mechanisms, 2018
Dose-Dependent Effects of FKRP Gene-Replacement Therapy on Functional Rescue and Longevity in Dystrophic Mice.
Vannoy CH et al.
Molecular Therapy. Methods & Clinical Development, 2018
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.
Fecarotta S et al.
Neuromuscular Disorders : Nmd, 2018
A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies.
Serafini PR et al.
Jci Insight, 2018
Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice.
Cataldi MP et al.
Nature Communications, 2018
Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice.
Tucker JD et al.
Molecular Therapy. Nucleic Acids, 2018