Associated Papers
Integrative Multi-Omics and Network Analyses Reveal Pathogenic and Protective Pathways in Centronuclear Myopathies.
Simon A et al.
International Journal of Molecular Sciences, 2025
[Opposite DNM2 mutations: when myopathy and neuropathy balance each other].
Milliet K et al.
Medecine Sciences : M/s, 2025
Combining dynamin 2 myopathy and neuropathy mutations rescues both phenotypes.
Goret M et al.
Nature Communications, 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
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
[The dynamin-2-gene related centronuclear myopathy].
Bitoun M
Medecine Sciences : M/s, 2023
MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy.
Giraud Q et al.
Brain : a Journal of Neurology, 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
Tamoxifen improves muscle structure and function of Bin1- and Dnm2-related centronuclear myopathies.
Gineste C et al.
Brain : a Journal of Neurology, 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
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
Dynamin-2 regulates microtubule stability via an endocytosis-independent mechanism.
Guo R et al.
Cytoskeleton (hoboken, N.j.), 2022
Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants.
Fujise K et al.
International Journal of Molecular Sciences, 2022
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S et al.
Journal of Clinical Medicine, 2022
Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy.
Espinosa KG et al.
Disease Models & Mechanisms, 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
Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.
Fujise K et al.
Human Mutation, 2022
Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.
Zhang Y et al.
Bmc Pediatrics, 2022
Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.
Gómez-Oca R et al.
International Journal of Molecular Sciences, 2021
Dynamin-2 Regulates Postsynaptic Cytoskeleton Organization and Neuromuscular Junction Development.
Lin SS et al.
Cell Reports, 2020
Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin.
Massana Muñoz X et al.
Jci Insight, 2020
Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy.
Massana Muñoz X et al.
Human Molecular Genetics, 2019
Insights into wild-type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish.
Zhao M et al.
Human Molecular Genetics, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Correlative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynamin.
Ali T et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease.
Zhao M et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2018
Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy.
Biancalana V et al.
Acta Neuropathologica Communications, 2018
Centronuclear myopathies under attack: A plethora of therapeutic targets.
Tasfaout H et al.
Journal of Neuromuscular Diseases, 2018
Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy.
Fraysse B et al.
Biology Open, 2016
Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.
Hohendahl A et al.
Journal of Structural Biology, 2016
Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.
Sambuughin N et al.
Bmc Neurology, 2015
Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation.
Chin YH et al.
Human Molecular Genetics, 2015
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.
Ravenscroft G et al.
Brain : a Journal of Neurology, 2015