Varaico: Literature-Extracted Genetic Variants

Gene:DNM2
Variant:p.E560K
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DNM2

NM_001005361.3:p.E560K

Associated Papers

A novel DNM2 variant associated with centronuclear myopathy: a case report.

Rimoldi M et al.

Frontiers in Genetics, 2025

40259930 (PubMed )
Supplement: DataSheet1.pdf

[The dynamin-2-gene related centronuclear myopathy].

Bitoun M

Medecine Sciences : M/s, 2023

Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues.

Laiman J et al.

Current Opinion in Cell Biology, 2023

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Dynamin controls neuropeptide secretion by organizing dense-core vesicle fusion sites.

Moro A et al.

Science Advances, 2021

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

Tassin TC et al.

Frontiers in Cellular Neuroscience, 2021

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

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

Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.

Hohendahl A et al.

Journal of Structural Biology, 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

A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells.

James NG et al.

Biochimica Et Biophysica Acta, 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

Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.

Gibbs EM et al.

Journal of Molecular Medicine (berlin, Germany), 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

Crystal structure of nucleotide-free dynamin.

Faelber K et al.

Nature, 2011

Dynamin 2 and human diseases.

Durieux AC et al.

Journal of Molecular Medicine (berlin, Germany), 2010

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.

Susman RD et al.

Neuromuscular Disorders : Nmd, 2010

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