Gene: SOD1 ×
Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China. 27604643 2016
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 Biomarker disease CTD_human Conformational Disorder of the Most Immature Cu, Zn-Superoxide Dismutase Leading to Amyotrophic Lateral Sclerosis. 26694608 2016
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 Biomarker disease CTD_human Overexpression of metallothionein-I, a copper-regulating protein, attenuates intracellular copper dyshomeostasis and extends lifespan in a mouse model of amyotrophic lateral sclerosis caused by mutant superoxide dismutase-1. 24163136 2014
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 Biomarker disease GENOMICS_ENGLAND Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. 25439728 2014
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 Biomarker disease GENOMICS_ENGLAND Is SOD1 loss of function involved in amyotrophic lateral sclerosis? 23687121 2013
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 Biomarker disease CTD_human Heat shock factor 1 over-expression protects against exposure of hydrophobic residues on mutant SOD1 and early mortality in a mouse model of amyotrophic lateral sclerosis. 24256636 2013
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 Biomarker disease CTD_human Ligand binding and aggregation of pathogenic SOD1. 23612299 2013
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 Biomarker disease CTD_human Copper depletion increases the mitochondrial-associated SOD1 in neuronal cells. 21140194 2011
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. 21220647 2011
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT A novel L67P SOD1 mutation in an Italian ALS patient. 21247266 2011
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 Biomarker disease CTD_human The G37R, one of the many SOD1 mutations known to be associated to FALS, is difficult to be reconciled with this model because it is located far from the metal sites and the monomer-monomer interface. 20485746 2010
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 Biomarker disease CTD_human Structural and biophysical properties of the pathogenic SOD1 variant H46R/H48Q. 19227972 2009
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation. 19741096 2009
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT SOD1 and amyotrophic lateral sclerosis: mutations and oligomerization. 18301754 2008
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT Complete loss of post-translational modifications triggers fibrillar aggregation of SOD1 in the familial form of amyotrophic lateral sclerosis. 18552350 2008
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis. 18378676 2008
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 Biomarker disease CTD_human Circular dichroism measurements revealed that the FALS mutant SODs are sensitive to denaturation by dithiothreitol, SDS, or heat treatment, but these results do not completely explain the different recognition by the mAbs between wild-type and FALS mutant SODs under the denatured conditions. 15522870 2005
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 Biomarker disease CTD_human Fully metallated S134N Cu,Zn-superoxide dismutase displays abnormal mobility and intermolecular contacts in solution. 16105836 2005
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 Biomarker disease CTD_human Modification of cysteine 111 in Cu/Zn superoxide dismutase results in altered spectroscopic and biophysical properties. 15096637 2004
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants. 15056757 2004
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 Biomarker disease CTD_human Antisense peptide nucleic acid targeting GluR3 delays disease onset and progression in the SOD1 G93A mouse model of familial ALS. 15264227 2004
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization. 12963370 2003
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT Loss of this protection through conformational rearrangement in the metal-deficient enzyme could be a toxic property common to mutants of SOD1 linked to FALS. 12754496 2003
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. 14506936 2003
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 Biomarker disease CTD_human Fibrillar inclusions and motor neuron degeneration in transgenic mice expressing superoxide dismutase 1 with a disrupted copper-binding site. 12127151 2002