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   Articles with "dnm2" as a keyword



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A DNM2 Centronuclear Myopathy Mutation Reveals a Link between Recycling Endosome Scission and Autophagy.

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recommendations! 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
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Different in vivo impact of Dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or Centronuclear Myopathy.

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recommendations! 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
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The AHI-1-BCR-ABL-DNM2 Complex Mediates Mitochondrial Dynamics in Drug-Resistant BCR-ABL+ Cells

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recommendations! 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
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Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy

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recommendations! 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
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Gain-of-Function Properties of a Dynamin 2 Mutant Implicated in Charcot-Marie-Tooth Disease

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recommendations! 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