Associated Papers
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
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
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
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
Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.
Gómez-Oca R et al.
International Journal of Molecular Sciences, 2021
Gain-of-Function Properties of a Dynamin 2 Mutant Implicated in Charcot-Marie-Tooth Disease.
Tassin TC et al.
Frontiers in Cellular Neuroscience, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Dynamin-2 Regulates Postsynaptic Cytoskeleton Organization and Neuromuscular Junction Development.
Lin SS et al.
Cell Reports, 2020
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Tsang MHY et al.
Molecular Genetics & Genomic Medicine, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 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
Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.
Hohendahl A et al.
Journal of Structural Biology, 2016
Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation.
Chin YH et al.
Human Molecular Genetics, 2015
Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years.
Werlauff U et al.
Journal of Neuromuscular Diseases, 2015
Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China.
Chen T et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells.
James NG et al.
Biochimica Et Biophysica Acta, 2014
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
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.
Gibbs EM et al.
Journal of Molecular Medicine (berlin, Germany), 2013
A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy.
Kierdaszuk B et al.
Neuromuscular Disorders : Nmd, 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
Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients.
Kenniston JA et al.
The Embo Journal, 2010
Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers.
Wang L et al.
The Journal of Biological Chemistry, 2010
Dynamin 2 and human diseases.
Durieux AC et al.
Journal of Molecular Medicine (berlin, Germany), 2010
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
Susman RD et al.
Neuromuscular Disorders : Nmd, 2010
Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.
Melberg A et al.
Neuromuscular Disorders : Nmd, 2010
164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16-18th January 2009, Naarden, The Netherlands.
Jungbluth H et al.
Neuromuscular Disorders : Nmd, 2009
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
Bitoun M et al.
Annals of Neurology, 2007