|
rs121912442
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
T |
0.830 |
CausalMutation
|
CLINVAR |
Mutation-dependent polymorphism of Cu,Zn-superoxide dismutase aggregates in the familial form of amyotrophic lateral sclerosis.
|
20404329 |
2010 |
|
rs121912442
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
|
8446170 |
1993 |
|
rs121912442
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
T |
0.830 |
CausalMutation
|
CLINVAR |
SOD1 (A4V)-mediated ALS presenting with lower motor neuron facial diplegia and unilateral vocal cord paralysis.
|
19618436 |
2009 |
|
rs121912442
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
T |
0.830 |
CausalMutation
|
CLINVAR |
Structural and biophysical properties of metal-free pathogenic SOD1 mutants A4V and G93A.
|
19800308 |
2009 |
|
rs121912442
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.
|
18378676 |
2008 |
|
rs121912442
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
T |
0.830 |
CausalMutation
|
CLINVAR |
Superoxide dismutase 1 encoding mutations linked to ALS adopts a spectrum of misfolded states.
|
22094223 |
2011 |
|
rs121912442
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.830 |
GeneticVariation
|
BEFREE |
The mean duration of disease was 1.0 +/- 0.4 years, which is significantly less than the mean duration of disease for FALS patients with mutations in SOD1 other than ala4val (p < 0.001).
|
9008494 |
1997 |
|
rs121912442
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.830 |
GeneticVariation
|
BEFREE |
To clarify the biological significance of the interaction of the redox system (Prx2/GPx1) with SOD1 in SOD1-mutated motor neurons in vivo, we produced an affinity-purified rabbit antibody against Prx2 and investigated the immunohistochemical localization of Prx2 and GPx1 in neuronal Lewy body-like hyaline inclusions (LBHIs) in the spinal cords of familial amyotrophic lateral sclerosis (FALS) patients with a two-base pair deletion at codon 126 and an Ala-->Val substitution at codon 4 in the SOD1 gene, as well as in transgenic rats expressing human SOD1 with H46R and G93A mutations.
|
14648077 |
2004 |
|
rs121912442
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
|
8528216 |
1995 |
|
rs121912442
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
T |
0.830 |
CausalMutation
|
CLINVAR |
Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.
|
19483195 |
2009 |
|
rs121912442
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.830 |
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 |
|
rs121912442
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.830 |
GeneticVariation
|
BEFREE |
Wild type CuZnSOD and several of the mutants associated with familial amyotrophic lateral sclerosis (FALS) (Ala(4) --> Val, Gly(93) --> Ala, and Leu(38) --> Val) were expressed in Saccharomyces cerevisiae.
|
10625639 |
2000 |