Varaico: Literature-Extracted Genetic Variants

Gene:UBA52
Variant:p.G76V
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UBA52

NM_001033930.3:p.G76V

Associated Papers

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

Carrillo Roas S et al.

Molecular Cell, 2025

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

Phosphorylated ubiquitin chain is the genuine Parkin receptor.

Okatsu K et al.

The Journal of Cell Biology, 2015

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

Monoubiquitination of EEA1 regulates endosome fusion and trafficking.

Ramanathan HN et al.

Cell & Bioscience, 2013

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.

Deng HX et al.

Nature, 2011

p62/SQSTM1 is required for Parkin-induced mitochondrial clustering but not mitophagy; VDAC1 is dispensable for both.

Narendra D et al.

Autophagy, 2010

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."