Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.K44E
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DNM1

NM_004408.4:p.K44E

Associated Papers

Ion Channel Regulation in Caveolae and Its Pathological Implications.

Huo J et al.

Cells, 2025

Local PI(4,5)P2 signaling inhibits fusion pore expansion during exocytosis.

Omar-Hmeadi M et al.

Cell Reports, 2023

Molecular mechanism of constitutive endocytosis of Acid-sensing ion channel 1a and its protective function in acidosis-induced neuronal death.

Zeng WZ et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013

Palmitoylation regulates intracellular trafficking of β2 adrenergic receptor/arrestin/phosphodiesterase 4D complexes in cardiomyocytes.

Liu R et al.

Plos One, 2012

Amyloid beta peptide-(1-42) induces internalization and degradation of beta2 adrenergic receptors in prefrontal cortical neurons.

Wang D et al.

The Journal of Biological Chemistry, 2011

Mechanisms involved in the reduction of GABAA receptor alpha1-subunit expression caused by the epilepsy mutation A322D in the trafficking-competent receptor.

Bradley CA et al.

The Journal of Biological Chemistry, 2008

Elucidation of clathrin-mediated endocytosis in tetrahymena reveals an evolutionarily convergent recruitment of dynamin.

Elde NC et al.

Plos Genetics, 2005

Interaction with the unfolded protein response reveals a role for stargazin in biosynthetic AMPA receptor transport.

Vandenberghe W et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005

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

Endocytosis of synaptotagmin 1 is mediated by a novel, tryptophan-containing motif.

Jarousse N et al.

Traffic (copenhagen, Denmark), 2003

ATP-sensitive potassium channel traffic regulation by adenosine and protein kinase C.

Hu K et al.

Neuron, 2003

Internalization signals in synaptotagmin VII utilizing two independent pathways are masked by intramolecular inhibitions.

Dasgupta S et al.

Journal of Cell Science, 2003

Phosphorylation of key serine residues is required for internalization of the complement 5a (C5a) anaphylatoxin receptor via a beta-arrestin, dynamin, and clathrin-dependent pathway.

Braun L et al.

The Journal of Biological Chemistry, 2003

Multiple internalization motifs differentially used by prolactin receptor isoforms mediate similar endocytic pathways.

Lu JC et al.

Molecular Endocrinology (baltimore, Md.), 2002

TGF beta receptor internalization into EEA1-enriched early endosomes: role in signaling to Smad2.

Hayes S et al.

The Journal of Cell Biology, 2002

Dynamin and Rab5a-dependent trafficking and signaling of the neurokinin 1 receptor.

Schmidlin F et al.

The Journal of Biological Chemistry, 2001

A viral protein that selectively downregulates ICAM-1 and B7-2 and modulates T cell costimulation.

Coscoy L et al.

The Journal of Clinical Investigation, 2001

Dynamin inhibits phosphatidylinositol 3-kinase in hematopoietic cells.

Harrison-Findik D et al.

Biochimica Et Biophysica Acta, 2001

Dynamin is involved in human epithelial cell vacuolation caused by the Helicobacter pylori-produced cytotoxin VacA.

Suzuki J et al.

The Journal of Clinical Investigation, 2001

Multiple topological domains mediate subtype-specific internalization of the M2 muscarinic acetylcholine receptor.

Schlador ML et al.

The Journal of Biological Chemistry, 2000

Regulated trafficking of the human dopamine transporter. Clathrin-mediated internalization and lysosomal degradation in response to phorbol esters.

Daniels GM et al.

The Journal of Biological Chemistry, 1999

Dissociation of functional roles of dynamin in receptor-mediated endocytosis and mitogenic signal transduction.

Whistler JL et al.

The Journal of Biological Chemistry, 1999

Multiple distinct coiled-coils are involved in dynamin self-assembly.

Okamoto PM et al.

The Journal of Biological Chemistry, 1999

Role of the basic, proline-rich region of dynamin in Src homology 3 domain binding and endocytosis.

Okamoto PM et al.

The Journal of Biological Chemistry, 1997

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."