Associated Papers
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
American Journal of Human Genetics, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
SoDCoD: a comprehensive database of Cu/Zn superoxide dismutase conformational diversity caused by ALS-linked gene mutations and other perturbations.
Tabuchi R et al.
Database : the Journal of Biological Databases and Curation, 2024
Comprehensive in silico analysis and molecular dynamics of the superoxide dismutase 1 (SOD1) variants related to amyotrophic lateral sclerosis.
Pereira GRC et al.
Plos One, 2021
Pathogenic Genome Signatures That Damage Motor Neurons in Amyotrophic Lateral Sclerosis.
Yousefian-Jazi A et al.
Cells, 2020
11 C-PK11195 PET-based molecular study of microglia activation in SOD1 amyotrophic lateral sclerosis.
Tondo G et al.
Annals of Clinical and Translational Neurology, 2020
Computational Investigation on Electrostatic Loop Mutants Instigating Destabilization and Aggregation on Human SOD1 Protein Causing Amyotrophic Lateral Sclerosis.
Srinivasan E et al.
The Protein Journal, 2019
Increase in DNA methylation in patients with amyotrophic lateral sclerosis carriers of not fully penetrant SOD1 mutations.
Coppedè F et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018
Monocytes of patients with amyotrophic lateral sclerosis linked to gene mutations display altered TDP-43 subcellular distribution.
De Marco G et al.
Neuropathology and Applied Neurobiology, 2017
Genetic and epigenetic study of ALS-discordant identical twins with double mutations in SOD1 and ARHGEF28.
Zhang M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
Genotype-phenotype correlations of amyotrophic lateral sclerosis.
Li HF et al.
Translational Neurodegeneration, 2016
Genotype-property patient-phenotype relations suggest that proteome exhaustion can cause amyotrophic lateral sclerosis.
Kepp KP
Plos One, 2015
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype.
Origone P et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2012
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