Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.E133Q
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SOD1

NM_000454.5:p.E133Q

Associated Papers

Structural Insights into the Dynamics of Water in SOD1 Catalysis and Drug Interactions.

Yapici I et al.

International Journal of Molecular Sciences, 2025

Landscapes of missense variant impact for human superoxide dismutase 1.

Axakova A et al.

Biorxiv : the Preprint Server for Biology, 2025

40060668 (PubMed )
Supplement: media-2.xlsx › abundance_map_scores_LLRps

Fundamental Neurochemistry Review: Copper availability as a potential therapeutic target in progressive supranuclear palsy: Insight from other neurodegenerative diseases.

Billings JL et al.

Journal of Neurochemistry, 2023

Molecular dynamics of a far positioned SOD1 mutant V14M reveals pathogenic misfolding behavior.

Tompa DR et al.

Journal of Biomolecular Structure & Dynamics, 2018

Lipid-associated aggregate formation of superoxide dismutase-1 is initiated by membrane-targeting loops.

Chng CP et al.

Proteins, 2014

Mechanical probes of SOD1 predict systematic trends in metal and dimer affinity of ALS-associated mutants.

Das A et al.

Journal of Molecular Biology, 2013

SOD1 exhibits allosteric frustration to facilitate metal binding affinity.

Das A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

Structural switching of Cu,Zn-superoxide dismutases at loop VI: insights from the crystal structure of 2-mercaptoethanol-modified enzyme.

Ihara K et al.

Bioscience Reports, 2012

22804629 (PubMed )
Supplement: bsr0320539add.pdf

Mitochondrial redox signalling by p66Shc mediates ALS-like disease through Rac1 inactivation.

Pesaresi MG et al.

Human Molecular Genetics, 2011

A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis.

Visani M et al.

Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2011

FALS mutations in Cu, Zn superoxide dismutase destabilize the dimer and increase dimer dissociation propensity: a large-scale thermodynamic analysis.

Khare SD et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2006

Mutant SOD1 instability: implications for toxicity in amyotrophic lateral sclerosis.

Tiwari A et al.

Neuro-degenerative Diseases, 2005

The unusually stable quaternary structure of human Cu,Zn-superoxide dismutase 1 is controlled by both metal occupancy and disulfide status.

Arnesano F et al.

The Journal of Biological Chemistry, 2004

Computational, pulse-radiolytic, and structural investigations of lysine-136 and its role in the electrostatic triad of human Cu,Zn superoxide dismutase.

Fisher CL et al.

Proteins, 1997

Synthesis and characterization of a monomeric mutant Cu/Zn superoxide dismutase with partially reconstituted enzymic activity.

Banci L et al.

European Journal of Biochemistry, 1995

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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."