Varaico: Literature-Extracted Genetic Variants

Gene:STAMBP
Variant:p.D348A
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STAMBP

NM_213622.4:p.D348A

Associated Papers

AMSH-mediated deubiquitination of Cx43 regulates internalization and degradation of gap junctions.

Ribeiro-Rodrigues TM et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2014

Mechanism of recruitment and activation of the endosome-associated deubiquitinase AMSH.

Davies CW et al.

Biochemistry, 2013

Recycling of EGFR and ErbB2 is associated with impaired Hrs tyrosine phosphorylation and decreased deubiquitination by AMSH.

Meijer IM et al.

Cellular Signalling, 2012

Structural basis for ESCRT-III CHMP3 recruitment of AMSH.

Solomons J et al.

Structure (london, England : 1993), 2011

AMSH interacts with ESCRT-0 to regulate the stability and trafficking of CXCR4.

Sierra MI et al.

The Journal of Biological Chemistry, 2010

Endosomal deubiquitinating enzymes control ubiquitination and down-regulation of protease-activated receptor 2.

Hasdemir B et al.

The Journal of Biological Chemistry, 2009

AMSH is an endosome-associated ubiquitin isopeptidase.

McCullough J et al.

The Journal of Cell Biology, 2004

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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."