×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
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
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
Biomarker
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
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
Biomarker
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
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
Biomarker
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
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
Biomarker
GENOMICS_ENGLAND
Is SOD1 loss of function involved in amyotrophic lateral sclerosis?
23687121 2013
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
Biomarker
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
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
Biomarker
CTD_human
Ligand binding and aggregation of pathogenic SOD1.
23612299 2013
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
Biomarker
CTD_human
Copper depletion increases the mitochondrial-associated SOD1 in neuronal cells.
21140194 2011
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
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
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
A novel L67P SOD1 mutation in an Italian ALS patient.
21247266 2011
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
Biomarker
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
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
Biomarker
CTD_human
Structural and biophysical properties of the pathogenic SOD1 variant H46R/H48Q.
19227972 2009
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
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
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
SOD1 and amyotrophic lateral sclerosis: mutations and oligomerization.
18301754 2008
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
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
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.
18378676 2008
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
Biomarker
CTD_human
Circular dichroism measurements revealed that the FALS mutant SOD s 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 SOD s under the denatured conditions.
15522870 2005
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
Biomarker
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
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
Biomarker
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
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
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
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
Biomarker
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
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.
12963370 2003
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
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
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
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
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
Biomarker
CTD_human
Fibrillar inclusions and motor neuron degeneration in transgenic mice expressing superoxide dismutase 1 with a disrupted copper-binding site.
12127151 2002