Varaico: Literature-Extracted Genetic Variants

Gene:DNM2
Variant:p.M179I
Back to variants list

DNM2

NM_001005361.3:p.M179I

Associated Papers

Modeling of Charcot-Marie-Tooth disease in zebrafish.

Korzeniowska Née Wiweger M et al.

Frontiers in Molecular Neuroscience, 2025

Effect of Pathogenic Mutations on the Formation of High-Order Dynamin 2 Assemblies in Living Cells.

Hedde PN et al.

Biochemistry, 2024

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

Dynamin-2 regulates microtubule stability via an endocytosis-independent mechanism.

Guo R et al.

Cytoskeleton (hoboken, N.j.), 2022

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

Tassin TC et al.

Frontiers in Cellular Neuroscience, 2021

Dynamin-2 Regulates Postsynaptic Cytoskeleton Organization and Neuromuscular Junction Development.

Lin SS et al.

Cell Reports, 2020

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

Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy.

Massana Muñoz X et al.

Human Molecular Genetics, 2019

Insights into wild-type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish.

Zhao M et al.

Human Molecular Genetics, 2019

Tks5 and Dynamin-2 enhance actin bundle rigidity in invadosomes to promote myoblast fusion.

Chuang MC et al.

The Journal of Cell Biology, 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

Zebrafish as a Model to Investigate Dynamin 2-Related Diseases.

Bragato C et al.

Scientific Reports, 2016

Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.

Sambuughin N et al.

Bmc Neurology, 2015

Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation.

Chin YH et al.

Human Molecular Genetics, 2015

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

Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy.

Haberlová J et al.

Journal of Neurogenetics, 2011

Dynamin 2 and human diseases.

Durieux AC et al.

Journal of Molecular Medicine (berlin, Germany), 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."