Associated Papers
Muscle-Specific DNM2 Overexpression Improves Charcot-Marie-Tooth Disease In Vivo and Reveals a Narrow Therapeutic Window in Skeletal Muscle.
Goret M et al.
International Journal of Molecular Sciences, 2026
[Opposite DNM2 mutations: when myopathy and neuropathy balance each other].
Milliet K et al.
Medecine Sciences : M/s, 2025
Neuromuscular disorders with evidence of both neuropathic and myopathic phenotype.
Laurini C et al.
Brain : a Journal of Neurology, 2025
Combining dynamin 2 myopathy and neuropathy mutations rescues both phenotypes.
Goret M et al.
Nature Communications, 2025
BIN1 reduction ameliorates DNM2-related Charcot-Marie-Tooth neuropathy.
Goret M et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues.
Laiman J et al.
Current Opinion in Cell Biology, 2023
Dynamin-2 regulates microtubule stability via an endocytosis-independent mechanism.
Guo R et al.
Cytoskeleton (hoboken, N.j.), 2022
The Lipid-Binding Defective Dynamin 2 Mutant in Charcot-Marie-Tooth Disease Impairs Proper Actin Bundling and Actin Organization in Glomerular Podocytes.
Hamasaki E et al.
Frontiers in Cell and Developmental Biology, 2022
Gain-of-Function Properties of a Dynamin 2 Mutant Implicated in Charcot-Marie-Tooth Disease.
Tassin TC et al.
Frontiers in Cellular Neuroscience, 2021
Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy.
Pereira JA et al.
Human Molecular Genetics, 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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Tks5 and Dynamin-2 enhance actin bundle rigidity in invadosomes to promote myoblast fusion.
Chuang MC et al.
The Journal of Cell 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
Loss of Dynamin 2 GTPase function results in microcytic anaemia.
Brown FC et al.
British Journal of Haematology, 2017
Expression of a dynamin 2 mutant associated with Charcot-Marie-Tooth disease leads to aberrant actin dynamics and lamellipodia formation.
Yamada H et al.
Neuroscience Letters, 2016
Impaired dynamin 2 function leads to increased AP-1 transcriptional activity through the JNK/c-Jun pathway.
Szymanska E et al.
Cellular Signalling, 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
Dynamin-2 in nervous system disorders.
González-Jamett AM et al.
Journal of Neurochemistry, 2014
Dynamin-2 function and dysfunction along the secretory pathway.
González-Jamett AM et al.
Frontiers in Endocrinology, 2013
Role of dynamin 2 in the disassembly of focal adhesions.
Briñas L et al.
Journal of Molecular Medicine (berlin, Germany), 2013
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Böhm J et al.
Human Mutation, 2012
Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination.
Sidiropoulos PN et al.
Brain : a Journal of Neurology, 2012
Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy.
Haberlová J et al.
Journal of Neurogenetics, 2011
Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.
Koutsopoulos OS et al.
Plos One, 2011
Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients.
Kenniston JA et al.
The Embo Journal, 2010
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
Susman RD et al.
Neuromuscular Disorders : Nmd, 2010
Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.
Bitoun M et al.
Human Mutation, 2009
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
Claeys KG et al.
Brain : a Journal of Neurology, 2009
[Mutations in dynamin 2 cause dominant centronuclear myopathy].
Bitoun M et al.
Medecine Sciences : M/s, 2006
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
Züchner S et al.
Nature Genetics, 2005