Associated Papers
Effect of Pathogenic Mutations on the Formation of High-Order Dynamin 2 Assemblies in Living Cells.
Hedde PN et al.
Biochemistry, 2024
Genetic etiology of progressive pediatric neurological disorders.
Aaltio J et al.
Pediatric Research, 2024
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
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
A new mutation in DNM2 gene in a large Italian family.
Lopergolo D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Comprehensive Clinicopathologic and Molecular Analysis of Mast Cell Leukemia With Associated Hematologic Neoplasm: A Report and In-Depth Study of 5 Cases.
Li P et al.
Frontiers in Oncology, 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
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
Phenotype variability and histopathological findings in patients with a novel DNM2 mutation.
Chen S et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2018
Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.
Berciano J et al.
Journal of Neurology, 2017
Insights into dynamin-associated disorders through analysis of equivalent mutations in the yeast dynamin Vps1.
Moustaq L et al.
Microbial Cell (graz, Austria), 2016
Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.
Sambuughin N et al.
Bmc Neurology, 2015
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Yamamoto S et al.
Cell, 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
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
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 2 and human diseases.
Durieux AC et al.
Journal of Molecular Medicine (berlin, Germany), 2010
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
Claeys KG et al.
Brain : a Journal of Neurology, 2009
Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation.
Gallardo E et al.
Journal of Neurology, 2008