Associated Papers
CRISPR/Cas9 gene editing in muscle-related genetic disorders: Restoring function and exercise capacity.
Wang Y et al.
Tissue & Cell, 2026
A review of recent studies on CRISPR/Cas9-mediated genome editing in a variety of muscle-related genetic disorders.
Lyu G et al.
Journal of Translational Medicine, 2025
CLN7 protein functions at the interface between endolysosomes and stress granules to promote cell survival.
Sharaireh A et al.
Cell Death & Disease, 2025
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study.
Colombo S et al.
Journal of Neuromuscular Diseases, 2025
SH3KBP1 promotes skeletal myofiber formation and functionality through ER/SR architecture integrity.
Guiraud A et al.
Embo Reports, 2025
A novel DNM2 variant associated with centronuclear myopathy: a case report.
Rimoldi M et al.
Frontiers in Genetics, 2025
Effect of Pathogenic Mutations on the Formation of High-Order Dynamin 2 Assemblies in Living Cells.
Hedde PN et al.
Biochemistry, 2024
Congenital myopathies: pathophysiological mechanisms and promising therapies.
Zhang H et al.
Journal of Translational Medicine, 2024
Dynamin-2 mutations linked to neonatal-onset centronuclear myopathy impair exocytosis and endocytosis in adrenal chromaffin cells.
Bayonés L et al.
Journal of Neurochemistry, 2024
A comparative medical genomics approach may facilitate the interpretation of rare missense variation.
Haque B et al.
Journal of Medical Genetics, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
[The dynamin-2-gene related centronuclear myopathy].
Bitoun M
Medecine Sciences : M/s, 2023
DNM2 levels normalization improves muscle phenotypes of a novel mouse model for moderate centronuclear myopathy.
de Carvalho Neves J et al.
Molecular Therapy. Nucleic Acids, 2023
A centronuclear myopathy-causing mutation in dynamin-2 disrupts neuronal morphology and excitatory synaptic transmission in a murine model of the disease.
Arriagada-Diaz J et al.
Neuropathology and Applied Neurobiology, 2023
Tamoxifen improves muscle structure and function of Bin1- and Dnm2-related centronuclear myopathies.
Gineste C et al.
Brain : a Journal of Neurology, 2023
The dynamin Vps1 mediates Atg9 transport to the sites of autophagosome formation.
Arlt H et al.
The Journal of Biological Chemistry, 2023
Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues.
Laiman J et al.
Current Opinion in Cell Biology, 2023
GSK3α phosphorylates dynamin-2 to promote GLUT4 endocytosis in muscle cells.
Laiman J et al.
The Journal of Cell Biology, 2023
Disrupted T-tubular network accounts for asynchronous calcium release in MTM1-deficient skeletal muscle.
Szentesi P et al.
The Journal of Physiology, 2023
Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy.
Hayes LH et al.
Neurology. Genetics, 2022
Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy.
Gómez-Oca R et al.
Nature Communications, 2022
Development of versatile allele-specific siRNAs able to silence all the dominant dynamin 2 mutations.
Dudhal S et al.
Molecular Therapy. Nucleic Acids, 2022
Gain-of-Function Dynamin-2 Mutations Linked to Centronuclear Myopathy Impair Ca2+-Induced Exocytosis in Human Myoblasts.
Bayonés L et al.
International Journal of Molecular Sciences, 2022
Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.
Rossi D et al.
The Journal of General Physiology, 2022
Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants.
Fujise K et al.
International Journal of Molecular Sciences, 2022
A dog model for centronuclear myopathy carrying the most common DNM2 mutation.
Böhm J et al.
Disease Models & Mechanisms, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy.
Trochet D et al.
Molecular Therapy. Nucleic Acids, 2022
BIN1 modulation in vivo rescues dynamin-related myopathy.
Lionello VM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.
Fujise K et al.
Human Mutation, 2022
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
Reumers SFI et al.
Clinical Genetics, 2021
Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.
Gómez-Oca R et al.
International Journal of Molecular Sciences, 2021
Genetic therapy for congenital myopathies.
Maani N et al.
Current Opinion in Neurology, 2021
Satellite cells deficiency and defective regeneration in dynamin 2-related centronuclear myopathy.
F Almeida C et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021
Progression or Not - A Small Natural History Study of Genetical Confirmed Congenital Myopathies.
Werlauff U et al.
Journal of Neuromuscular Diseases, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration.
Prokic I et al.
Disease Models & Mechanisms, 2020
Dynamin-2 Regulates Postsynaptic Cytoskeleton Organization and Neuromuscular Junction Development.
Lin SS et al.
Cell Reports, 2020
Dynamin-2 R465W mutation induces long range perturbation in highly ordered oligomeric structures.
Hinostroza F et al.
Scientific Reports, 2020
Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders.
Tan CA et al.
Genetic Testing and Molecular Biomarkers, 2020
Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin.
Massana Muñoz X et al.
Jci Insight, 2020
The intragenic microRNA miR199A1 in the dynamin 2 gene contributes to the pathology of X-linked centronuclear myopathy.
Chen X et al.
The Journal of Biological Chemistry, 2020
Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients.
Koch C et al.
Molecular Therapy. Methods & Clinical Development, 2020