Varaico: Literature-Extracted Genetic Variants

Gene:VPS4B
Variant:p.E235Q
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VPS4B

NM_004869.4:p.E235Q

Associated Papers

Endolysosomal Cation Channels and Lung Disease.

Spix B et al.

Cells, 2022

The ESCRT-III molecules regulate the apical targeting of bile salt export pump.

Wu SH et al.

Journal of Biomedical Science, 2021

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.

Rodger C et al.

American Journal of Human Genetics, 2020

33186545 (PubMed )
Supplement: mmc2.pdf

Physical, Functional and Genetic Interactions between the BEACH Domain Protein SPIRRIG and LIP5 and SKD1 and Its Role in Endosomal Trafficking to the Vacuole in Arabidopsis.

Steffens A et al.

Frontiers in Plant Science, 2017

Asymmetric ring structure of Vps4 required for ESCRT-III disassembly.

Caillat C et al.

Nature Communications, 2015

Binding of Substrates to the Central Pore of the Vps4 ATPase Is Autoinhibited by the Microtubule Interacting and Trafficking (MIT) Domain and Activated by MIT Interacting Motifs (MIMs).

Han H et al.

The Journal of Biological Chemistry, 2015

Membrane-associated RING-CH (MARCH) 8 mediates the ubiquitination and lysosomal degradation of the transferrin receptor.

Fujita H et al.

Journal of Cell Science, 2013

HID-1, a new component of the peptidergic signaling pathway.

Mesa R et al.

Genetics, 2011

ESCRT-dependent targeting of plasma membrane localized KCa3.1 to the lysosomes.

Balut CM et al.

American Journal of Physiology. Cell Physiology, 2010

The YPLGVG sequence of the Nipah virus matrix protein is required for budding.

Patch JR et al.

Virology Journal, 2008

Cholesterol depletion facilitates ubiquitylation of NPC1 and its association with SKD1/Vps4.

Ohsaki Y et al.

Journal of Cell Science, 2006

Degradation of endocytosed epidermal growth factor and virally ubiquitinated major histocompatibility complex class I is independent of mammalian ESCRTII.

Bowers K et al.

The Journal of Biological Chemistry, 2006

Structural and mechanistic studies of VPS4 proteins.

Scott A et al.

The Embo Journal, 2005

Characterization of prototype foamy virus gag late assembly domain motifs and their role in particle egress and infectivity.

Stange A et al.

Journal of Virology, 2005

Interaction of the mammalian endosomal sorting complex required for transport (ESCRT) III protein hSnf7-1 with itself, membranes, and the AAA+ ATPase SKD1.

Lin Y et al.

The Journal of Biological Chemistry, 2005

Mammalian class E Vps proteins, SBP1 and mVps2/CHMP2A, interact with and regulate the function of an AAA-ATPase SKD1/Vps4B.

Fujita H et al.

Journal of Cell Science, 2004

A dominant negative form of the AAA ATPase SKD1/VPS4 impairs membrane trafficking out of endosomal/lysosomal compartments: class E vps phenotype in mammalian cells.

Fujita H et al.

Journal of Cell Science, 2003

End13p/Vps4p is required for efficient transport from early to late endosomes in Saccharomyces cerevisiae.

Zahn R et al.

Journal of Cell Science, 2001

The mouse SKD1, a homologue of yeast Vps4p, is required for normal endosomal trafficking and morphology in mammalian cells.

Yoshimori T et al.

Molecular Biology of the Cell, 2000

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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."