A DNM2 Centronuclear Myopathy Mutation Reveals a Link between Recycling Endosome Scission and Autophagy.
Sign Up to like & getrecommendations! Published in 2020 at "Developmental cell"
DOI: 10.1016/j.devcel.2020.03.018
Abstract: Autophagy involves engulfment of cytoplasmic contents by double-membraned autophagosomes, which ultimately fuse with lysosomes to enable degradation of their substrates. We recently proposed that the tubular-vesicular recycling endosome membranes were a core platform on which… read more here.
Keywords: autophagosome formation; recycling endosome; centronuclear myopathy; autophagy ... See more keywords
Different in vivo impact of Dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or Centronuclear Myopathy.
Sign Up to like & getrecommendations! Published in 2019 at "Human molecular genetics"
DOI: 10.1093/hmg/ddz249
Abstract: Dynamin 2 (DNM2) is a ubiquitously expressed GTPase implicated in many cellular functions such as membrane trafficking and cytoskeleton regulation. Dominant mutations in DNM2 result in tissue specific diseases affecting peripheral nerves (Charcot-Marie-Tooth neuropathy, CMT)… read more here.
Keywords: cnm; tooth neuropathy; charcot marie; centronuclear myopathy ... See more keywords
Abstract 4140151: Network Analysis of Differentially Expressed Genes after Silencing Dynamin 2 in Pulmonary Arterial Hypertension
Sign Up to like & getrecommendations! Published in 2024 at "Circulation"
DOI: 10.1161/circ.150.suppl_1.4140151
Abstract: Rationale: Pulmonary arterial hypertension (PAH) is a rare cardiopulmonary disease that can cause right heart failure and even death. In PAH, excessive mitochondrial fission is responsible for the hyperproliferation of pulmonary artery smooth muscle cells… read more here.
Keywords: pah; dnm2; fission; analysis ... See more keywords
The AHI-1-BCR-ABL-DNM2 Complex Mediates Mitochondrial Dynamics in Drug-Resistant BCR-ABL+ Cells
Sign Up to like & getrecommendations! Published in 2019 at "Blood"
DOI: 10.1182/blood-2019-128712
Abstract: Chronic myeloid leukemia (CML) is driven by the BCR-ABL1 oncoprotein with constitutively active protein-tyrosine kinase activity, perturbing multiple signaling pathways. Although therapies with tyrosine kinase inhibitors (TKIs) can effectively treat early phase CML, relapses and… read more here.
Keywords: ahi sh3; bcr abl; ahi; ahi bcr ... See more keywords
Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy
Sign Up to like & getrecommendations! Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200027
Abstract: Background and Objectives Centronuclear myopathy (CNM) due to mutations in the dynamin 2 gene, DNM2, is a rare neuromuscular disease about which little is known. The objective of this study was to describe the range… read more here.
Keywords: pathogenic variants; centronuclear myopathy; dnm2 related; related cnm ... See more keywords
A novel DNM2 variant associated with centronuclear myopathy: a case report
Sign Up to like & getrecommendations! Published in 2025 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2025.1559773
Abstract: DNM2 encodes the dynamin-2 protein, a GTPase involved in clathrin-mediated endocytosis and other membrane trafficking pathways. The dynamin-2 protein is composed of several functional domains, including a GTPase domain, a middle domain, a pleckstrin homology… read more here.
Keywords: report; dnm2; centronuclear myopathy; dnm2 variant ... See more keywords
Gain-of-Function Properties of a Dynamin 2 Mutant Implicated in Charcot-Marie-Tooth Disease
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Cellular Neuroscience"
DOI: 10.3389/fncel.2021.745940
Abstract: Mutations in the gene encoding dynamin 2 (DNM2), a GTPase that catalyzes membrane constriction and fission, are associated with two autosomal-dominant motor disorders, Charcot-Marie-Tooth disease (CMT) and centronuclear myopathy (CNM), which affect nerve and muscle,… read more here.
Keywords: cmt; cnm; charcot marie; function ... See more keywords