|
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
|
T |
0.830 |
CausalMutation
|
CLINVAR |
ALS-causing SOD1 mutations promote production of copper-deficient misfolded species.
|
21549128 |
2011 |
|
rs121912442
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
A SOD1 gene mutation in a patient with slowly progressing familial ALS.
|
10430435 |
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 |
|
rs121912442
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group.
|
17653917 |
2007 |
|
rs121912442
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.
|
19741096 |
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 |
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 |
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
|
8446170 |
1993 |
|
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
|
|
0.830 |
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 |
|
rs121912442
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.
|
7887412 |
1995 |