|
rs121912442
|
|
|
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
|
|
|
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
|
|
|
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 |
|
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.
|
7951249 |
1994 |
|
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
SOD1 (A4V)-mediated ALS presenting with lower motor neuron facial diplegia and unilateral vocal cord paralysis.
|
19618436 |
2009 |
|
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Superoxide dismutase 1 encoding mutations linked to ALS adopts a spectrum of misfolded states.
|
22094223 |
2011 |
|
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Age and founder effect of SOD1 A4V mutation causing ALS.
|
19176896 |
2009 |
|
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.
|
8351519 |
1993 |
|
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Common denominator of Cu/Zn superoxide dismutase mutants associated with amyotrophic lateral sclerosis: decreased stability of the apo state.
|
12482932 |
2002 |
|
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Human embryonic stem cell-derived motor neurons expressing SOD1 mutants exhibit typical signs of motor neuron degeneration linked to ALS.
|
19259395 |
2009 |
|
rs121912442
|
|
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
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Structural and biophysical properties of metal-free pathogenic SOD1 mutants A4V and G93A.
|
19800308 |
2009 |
|
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
ALS-causing SOD1 mutations promote production of copper-deficient misfolded species.
|
21549128 |
2011 |
|
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.
|
19483195 |
2009 |
|
rs121912442
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
"""True"" sporadic ALS associated with a novel SOD-1 mutation."
|
12402272 |
2002 |
|
rs121912442
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.
|
7881433 |
1994 |
|
rs121912442
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.
|
12963370 |
2003 |
|
rs121912442
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.
|
7496169 |
1995 |
|
rs121912442
|
|
|
0.830 |
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 |
|
rs121912442
|
|
|
0.830 |
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 |
|
rs121912442
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives.
|
16324086 |
2005 |
|
rs121912442
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.
|
21914052 |
2012 |
|
rs121912442
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.
|
15056757 |
2004 |
|
rs121912442
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).
|
9455977 |
1997 |
|
rs121912442
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.
|
8351519 |
1993 |