Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.S45N
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DNM1

NM_004408.4:p.S45N

Associated Papers

A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a.

Harms FL et al.

Neurogenetics, 2023

The dynamin Vps1 mediates Atg9 transport to the sites of autophagosome formation.

Arlt H et al.

The Journal of Biological Chemistry, 2023

Cell surface protein aggregation triggers endocytosis to maintain plasma membrane proteostasis.

Paul D et al.

Nature Communications, 2023

36854675 (PubMed )
Supplement: 41467_2023_36496_MOESM1_ESM.pdf

Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy.

Afsar T et al.

Frontiers in Pediatrics, 2023

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation.

Li H et al.

Frontiers in Pharmacology, 2019

A noncanonical role for dynamin-1 in regulating early stages of clathrin-mediated endocytosis in non-neuronal cells.

Srinivasan S et al.

Plos Biology, 2018

DNM1 encephalopathy: A new disease of vesicle fission.

von Spiczak S et al.

Neurology, 2017

A highly-sensitive high throughput assay for dynamin's basal GTPase activity.

Mohanakrishnan A et al.

Plos One, 2017

Dynasore - not just a dynamin inhibitor.

Preta G et al.

Cell Communication and Signaling : Ccs, 2015

Dynamin-catalyzed membrane fission requires coordinated GTP hydrolysis.

Liu YW et al.

Plos One, 2013

Intracellular curvature-generating proteins in cell-to-cell fusion.

Richard JP et al.

The Biochemical Journal, 2011

Real-time detection reveals that effectors couple dynamin's GTP-dependent conformational changes to the membrane.

Ramachandran R et al.

The Embo Journal, 2008

Association of Dishevelled with the clathrin AP-2 adaptor is required for Frizzled endocytosis and planar cell polarity signaling.

Yu A et al.

Developmental Cell, 2007

Dynamin GTPase domain mutants that differentially affect GTP binding, GTP hydrolysis, and clathrin-mediated endocytosis.

Song BD et al.

The Journal of Biological Chemistry, 2004

The yeast dynamin-related GTPase Vps1p functions in the organization of the actin cytoskeleton via interaction with Sla1p.

Yu X et al.

Journal of Cell Science, 2004

Differential role of actin, clathrin, and dynamin in Fc gamma receptor-mediated endocytosis and phagocytosis.

Tse SM et al.

The Journal of Biological Chemistry, 2003

GTPase activity of dynamin and resulting conformation change are essential for endocytosis.

Marks B et al.

Nature, 2001

Garrotes, springs, ratchets, and whips: putting dynamin models to the test.

Sever S et al.

Traffic (copenhagen, Denmark), 2000

A model for dynamin self-assembly based on binding between three different protein domains.

Smirnova E et al.

The Journal of Biological Chemistry, 1999

Impairment of dynamin's GAP domain stimulates receptor-mediated endocytosis.

Sever S et al.

Nature, 1999

The yeast dynamin-like protein, Mgm1p, functions on the mitochondrial outer membrane to mediate mitochondrial inheritance.

Shepard KA et al.

The Journal of Cell Biology, 1999

A binding site for SH3 domains targets dynamin to coated pits.

Shpetner HS et al.

The Journal of Biological Chemistry, 1996

Effects of mutant rat dynamin on endocytosis.

Herskovits JS et al.

The Journal of Cell Biology, 1993

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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."