
DOI . ORG {
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Title[redir]:
Dynamin 2 and human diseases | Journal of Molecular Medicine
Description:
Dynamin 2 (DNM2) mutations cause autosomal dominant centronuclear myopathy, a rare form of congenital myopathy, and intermediate and axonal forms of Charcot–Marie-Tooth disease, a peripheral neuropathy. DNM2 is a large GTPase mainly involved in membrane trafficking through its function in the formation and release of nascent vesicles from biological membranes. DNM2 participates in clathrin-dependent and clathrin-independent endocytosis and intracellular membrane trafficking (from endosomes and Golgi apparatus). Recent studies have also implicated DNM2 in exocytosis. DNM2 belongs to the machinery responsible for the formation of vesicles and regulates the cytoskeleton providing intracellular vesicle transport. In addition, DNM2 tightly interacts with and is involved in the regulation of actin and microtubule networks, independent from membrane trafficking processes. We summarize here the molecular, biochemical, and functional data on DNM2 and discuss the possible pathophysiological mechanisms via which DNM2 mutations can lead to two distinct neuromuscular disorders.
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Keywords {🔍}
google, scholar, pubmed, cas, dynamin, biol, cell, endocytosis, chem, mol, protein, sci, mcniven, regulates, myopathy, cells, article, domain, cao, guicheney, bitoun, membrane, actin, function, mutations, centronuclear, disease, trafficking, dnm, charcotmarietooth, human, prudhon, gtpase, interacts, nat, usa, schmid, vesicle, access, proc, natl, acad, chen, lee, biochem, role, res, durieux, vesicles, exocytosis,
Topics {✒️}
signal-responsive f-actin-binding protein axonal charcot–marie-tooth disease vegfr-2/kdr-mediated endothelial signaling charcot–marie-tooth disease charcot–marie-tooth neuropathy charcot–marie-tooth mutant synaptic vesicle endocytosis endosome-derived clathrin-coated vesicles month download article/chapter endothelial nitric-oxide synthase growth factor-stimulated cells regulates receptor-mediated endocytosis adaptor protein tks5/fish src kinase-sensitive complex fas ligand-mediated apoptosis src-induced dynamin-2 phosphorylation efficient clathrin-mediated endocytosis nitric-oxide synthase function defective excitation-contraction coupling groupe hospitalier pitié-salpêtrière late-onset alzheimer disease shank/prosap scaffolding proteins ap-1-positive endosomal trafficking dynamin-2-mediated slow endocytosis dynamin-1-dependent rapid endocytosis endocytic clathrin-coated pits nk cell-mediated cytotoxicity ubiquitously expressed dynamin-ii excitation-contraction coupling machinery aav-mediated intramuscular delivery occludin-based protein complexes splice-variant specific functions proline/arginine-rich domains focal adhesion kinase dominant centronuclear myopathy proteinuric kidney disease distinct neuromuscular disorders intracellular membrane trafficking autosomal centronuclear myopathy clathrin-mediated endocytosis related subjects anne-cécile durieux grb2 sh3 domain cortactin–dynamin complex sporadic centronuclear myopathy dynamin isoform-specific interaction human myotubular myopathy formin-binding protein 17 membrane trafficking processes isoform ubiquitously expressed
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headline:Dynamin 2 and human diseases
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datePublished:2010-02-03T00:00:00Z
dateModified:2010-02-03T00:00:00Z
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Dynamin 2
Centronuclear myopathy
Charcot–Marie-Tooth neuropathy
Endocytosis
Cytoskeleton
Monogenic disease
Biology
Molecular Medicine
Human Genetics
Internal Medicine
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description:Dynamin 2 (DNM2) mutations cause autosomal dominant centronuclear myopathy, a rare form of congenital myopathy, and intermediate and axonal forms of Charcot–Marie-Tooth disease, a peripheral neuropathy. DNM2 is a large GTPase mainly involved in membrane trafficking through its function in the formation and release of nascent vesicles from biological membranes. DNM2 participates in clathrin-dependent and clathrin-independent endocytosis and intracellular membrane trafficking (from endosomes and Golgi apparatus). Recent studies have also implicated DNM2 in exocytosis. DNM2 belongs to the machinery responsible for the formation of vesicles and regulates the cytoskeleton providing intracellular vesicle transport. In addition, DNM2 tightly interacts with and is involved in the regulation of actin and microtubule networks, independent from membrane trafficking processes. We summarize here the molecular, biochemical, and functional data on DNM2 and discuss the possible pathophysiological mechanisms via which DNM2 mutations can lead to two distinct neuromuscular disorders.
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Centronuclear myopathy
Charcot–Marie-Tooth neuropathy
Endocytosis
Cytoskeleton
Monogenic disease
Biology
Molecular Medicine
Human Genetics
Internal Medicine
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