|
rs121912438
|
|
C |
0.900 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.
|
8351519 |
1993 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
|
8446170 |
1993 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS.
|
7836951 |
1994 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others.
|
8069312 |
1994 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.
|
7870076 |
1994 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.
|
7951252 |
1994 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.
|
7881433 |
1994 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
|
8528216 |
1995 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.
|
7887412 |
1995 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.
|
7496169 |
1995 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.
|
8907321 |
1996 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.
|
9131652 |
1997 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We have set up a model system for familial amyotrophic lateral sclerosis (FALS) by transfecting human neuroblastoma cell line SH-SY5Y with plasmids directing constitutive expression of either wild-type human Cu,Zn superoxide dismutase (Cu,ZnSOD) or a mutant of this enzyme (G93A) associated with FALS.
|
9315720 |
1997 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Based on the temporal correlation of these impairments with the onset of motor weakness and the appearance of NF inclusions and vacuoles in vulnerable motor neurons, the latter lesions may be the proximal cause of motor neuron dysfunction and degeneration in the G93A mice and in FALS patients with SOD1 mutations.
|
9382875 |
1997 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).
|
9455977 |
1997 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We found significant increases in concentrations of 3-nitrotyrosine, a marker of peroxynitrite-mediated nitration, in upper and lower spinal cord and in cerebral cortex of transgenic mice with the FALS-associated G93A mutation.
|
9307254 |
1997 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In the present study, we analyzed the extent of oxidative injury to lumbar and cervical spinal cord proteins in transgenic FALS mice that overexpress the SOD1 mutation [TgN(SOD1-G93A)G1H] in comparison with nontransgenic mice.
|
9798929 |
1998 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A SOD1 gene mutation in a patient with slowly progressing familial ALS.
|
10430435 |
1999 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We cloned the cDNA for the FALS G93A mutant, overexpressed the protein in E. coli cells, purified the protein, and studied its enzymic activities.
|
10102580 |
1999 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds.
|
10400992 |
1999 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In a recent work, we have observed that calcineurin activity is depressed in two models for familial amyotrophic lateral sclerosis (FALS) associated with mutations of the antioxidant enzyme Cu,Zn superoxide dismutase (SOD1), namely in neuroblastoma cells expressing either SOD1 mutant G93A or mutant H46R and in brain areas from G93A transgenic mice.
|
11701756 |
2001 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Transgenic mice carrying familial amyotrophic lateral sclerosis (FALS)-linked mutant Cu/Zn superoxide dismutase (SOD1) genes such as G93A (G93A-mice) and G85R (G85R-mice) genes develop limb paresis.
|
11860498 |
2001 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To investigate the mechanism of toxicity induced by the mutant SOD1 associated with FALS, we generated transgenic Caenorhabditis elegans strains that contain wild-type and mutant human A4V, G37R and G93A SOD1 recombinant plasmids.
|
11590119 |
2001 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In the present study, we first examined metallothioneins (MTs), known to bind copper ions and decrease oxidative toxicity, and found a twofold increase in MTs in the spinal cord of the SOD1 transgenic mice with a FALS-linked mutation (G93A), but not in the spinal cord of wild-type SOD1 transgenic mice.
|
11298796 |
2001 |