×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
The ALS -related mutant G85R SOD1 and G93A SOD1 formed visible aggregates and caused cell death possibly by apoptosis when over-expressed in neuro2a cells.
18233996
2008
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
Toxicity from different SOD1 mutants dysregulates the complement system and the neuronal regenerative response in ALS motor neurons.
17463094
2007
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
Degradation of amyotrophic lateral sclerosis-linked mutant Cu,Zn-superoxide dismutase proteins by macroautophagy and the proteasome.
16920710
2006
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
Further characterization of these as-isolated SOD1 proteins may provide new insights regarding mutant SOD1 enzyme toxicity in ALS .
11854284
2002
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
Mutant SOD1 linked to familial amyotrophic lateral sclerosis, but not wild-type SOD1, induces ER stress in COS7 cells and transgenic mice.
12659845
2003
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
[Parkinson disease and amyotrophic lateral sclerosis. Tauopathies, TDP-43 and SOD mutations].
18808763
2009
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
Phenotypic effects of familial amyotrophic lateral sclerosis mutant Sod alleles in transgenic Drosophila.
12502789
2003
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
Mutation of SOD1 in ALS : a gain of a loss of function.
17504823
2007
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
Since the discovery of mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1 ), testing for SOD1 gene mutations has become a routine part of the investigation into ALS patients with a family history.
17453632
2007
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
Familial amyotrophic lateral sclerosis mutants of copper/zinc superoxide dismutase are susceptible to disulfide reduction.
12458194
2003
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
Our in vivo evidence correlates mutation of the SOD1 gene to increased nitric oxide, nitration and oxidation of proteins in ALS .
17368952
2007
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
Mitochondrial localization of mutant superoxide dismutase 1 triggers caspase-dependent cell death in a cellular model of familial amyotrophic lateral sclerosis.
12393885
2002
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS ).
16952453
2006
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
A limited role for disulfide cross-linking in the aggregation of mutant SOD1 linked to familial amyotrophic lateral sclerosis.
18316367
2008
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
These data suggest that UPS impairment occurs in motor neurons of mutant SOD1 -linked ALS mice and may play a role in the disease progression.
18826962
2009
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
This paper reports RNP complex formation on SOD1 mRNA as a neuronal tissue-specific and ALS -associated mutation sensitive feature.
16730180
2006
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.
18608106
2009
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
Amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease ) is one of the most common neurodegenerative disorders in humans.
12441104
2002
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
The superoxide dismutase1 (SOD1) G93A mutation does not promote neuronal injury after focal brain ischemia and optic nerve transection in mice.
15350647
2004
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
Identification of a novel mutation in Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis.
12039658
2002
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
Familial ALS-superoxide dismutases associate with mitochondria and shift their redox potentials.
16945901
2006
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
Slowly progressing amyotrophic lateral sclerosis caused by H46R SOD1 mutation.
17483589
2007
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
Conversely, the loss of VEGF expression through genetic depletion can give rise to a phenotype resembling ALS independent of SOD1 mutations.
17652584
2007
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
Mutations in the SOD1 gene are found both in sporadic and familial ALS cases without any definite predilection for any part of the gene.
14506936
2003
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GeneticVariation
LHGDN
Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality.
17549529
2007