Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.G76V
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RPS27A

NM_002954.6:p.G76V

Associated Papers

Convergence of orphan quality control pathways at a ubiquitin chain-elongating ligase.

Carrillo Roas S et al.

Molecular Cell, 2025

The HSPB1-p62/SQSTM1 functional complex regulates the unconventional secretion and transcellular spreading of the HD-associated mutant huntingtin protein.

Bonavita R et al.

Human Molecular Genetics, 2023

Increased mitochondrial calcium uptake and concomitant mitochondrial activity by presenilin loss promotes mTORC1 signaling to drive neurodegeneration.

Ryan KC et al.

Aging Cell, 2021

The proteasome regulator PI31 is required for protein homeostasis, synapse maintenance, and neuronal survival in mice.

Minis A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Endophilin-A Deficiency Induces the Foxo3a-Fbxo32 Network in the Brain and Causes Dysregulation of Autophagy and the Ubiquitin-Proteasome System.

Murdoch JD et al.

Cell Reports, 2016

Ubiquilins Chaperone and Triage Mitochondrial Membrane Proteins for Degradation.

Itakura E et al.

Molecular Cell, 2016

Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy.

Israeli E et al.

Human Molecular Genetics, 2016

The ubiquitin-proteasome system regulates the stability and activity of the glucose sensor glucokinase in pancreatic β-cells.

Hofmeister-Brix A et al.

The Biochemical Journal, 2013

Pathogen signatures activate a ubiquitination pathway that modulates the function of the metabolic checkpoint kinase mTOR.

Ivanov SS et al.

Nature Immunology, 2013

24121838 (PubMed )
Supplement: NIHMS520276-supplement-1.pdf

Lys6-modified ubiquitin inhibits ubiquitin-dependent protein degradation.

Shang F et al.

The Journal of Biological Chemistry, 2005

Direct binding of ubiquitin conjugates by the mammalian p97 adaptor complexes, p47 and Ufd1-Npl4.

Meyer HH et al.

The Embo Journal, 2002

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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."