|
rs369947678
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121912443
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Impaired copper binding by the H46R mutant of human Cu,Zn superoxide dismutase, involved in amyotrophic lateral sclerosis.
|
7805862 |
1994 |
|
rs121912443
|
|
|
0.100 |
GeneticVariation |
BEFREE |
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 |
|
rs757200716
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Impaired copper binding by the H46R mutant of human Cu,Zn superoxide dismutase, involved in amyotrophic lateral sclerosis.
|
7805862 |
1994 |
|
rs80265967
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase.
|
7647793 |
1995 |
|
rs1159805691
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase.
|
7647793 |
1995 |
|
rs121912439
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Decreased thermal stability of red blood cell glu100-->gly superoxide dismutase from a family with amyotrophic lateral sclerosis.
|
7635196 |
1995 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Thus, the ALS symptoms observed in G93A transgenic mice are not caused by the reduction of Cu,Zn-SOD activity with the mutant enzyme; rather, it is induced by a gain-of-function, an enhancement of the free radical-generating function.
|
8650157 |
1996 |
|
rs80265967
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We describe two families with ALS and one apparently sporadic ALS patient who are heterozygous for the D90A mutation.
|
8909456 |
1996 |
|
rs1159805691
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We describe two families with ALS and one apparently sporadic ALS patient who are heterozygous for the D90A mutation.
|
8909456 |
1996 |
|
rs121912448
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have identified a novel two-base mutation in exon 1 of the Cu/Zn superoxide dismutase (SOD1) gene (TGC to TTT), which resulted in Cys6 to Phe substitution in a Japanese family with amyotrophic lateral sclerosis (ALS).
|
8907321 |
1996 |
|
rs121912431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To test these possibilities, levels of nitrotyrosine and markers for hydroxyl radical formation were measured in two lines of transgenic mice that develop progressive motor neuron disease from expressing human familial ALS-linked SOD1 mutation G37R.
|
9207139 |
1997 |
|
rs121912431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
High levels of familial Amyotrophic Lateral Sclerosis (ALS)-linked SOD1 mutants G93A and G37R were previously shown to mediate disease in mice through an acquired toxic property.
|
9052802 |
1997 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This finding highlights the utility of the SOD1-G93A transgenic mouse model for preclinical drug studies in ALS.
|
9419057 |
1997 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mice engineered to express a transgene encoding a human Cu/Zn superoxide dismutase (SOD1) with a Gly93 --> Ala (G93A) mutation found in patients who succumb to familial amyotrophic lateral sclerosis (FALS) develop a rapidly progressive and fatal motor neuron disease (MND) similar to amyotrophic lateral sclerosis (ALS).
|
9382875 |
1997 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
High levels of familial Amyotrophic Lateral Sclerosis (ALS)-linked SOD1 mutants G93A and G37R were previously shown to mediate disease in mice through an acquired toxic property.
|
9052802 |
1997 |
|
rs74315452
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The Ile 113Thr mutation in the SOD1 gene has been identified in some familial as well as sporadic cases with ALS, as a mutation with a low penetrance.
|
10732812 |
1997 |
|
rs796998590
|
|
|
0.020 |
GeneticVariation |
BEFREE |
High levels of familial Amyotrophic Lateral Sclerosis (ALS)-linked SOD1 mutants G93A and G37R were previously shown to mediate disease in mice through an acquired toxic property.
|
9052802 |
1997 |
|
rs121912455
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified the heterozygote mutation Gly72Ser (exon 3) in a family with two individuals affected by ALS.
|
9455977 |
1997 |
|
rs121912431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The X-ray crystal structure of a human copper/zinc superoxide dismutase mutant (G37R CuZnSOD) found in some patients with the inherited form of Lou Gehrig's disease (FALS) has been determined to 1.9 angstroms resolution.
|
9541385 |
1998 |
|
rs121912431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To investigate the role of neurofilaments in motor neuron disease caused by superoxide dismutase (SOD1) mutations, transgenic mice expressing a amyotrophic lateral sclerosis-linked SOD1 mutant (SOD1(G37R)) were mated with transgenic mice expressing human neurofilament heavy (NF-H) subunits.
|
9689131 |
1998 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Similar results were obtained from the reaction between familial ALS SOD mutants and H217O2: DMPO/.17OH (64%); DMPO/.16OH (36%) from A4V and DMPO/.17OH (62%); and DMPO/.16OH (38%) from G93A.
|
9618471 |
1998 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Three ALS mice [(SOD1-G93A)1Gur] and three controls [(SOD-1)2Gur] were obtained from The Jackson Laboratory.
|
9527889 |
1998 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We used in vivo microdialysis to measure the conversion of 4-hydroxybenzoic acid to 3,4-dihydroxybenzoic acid (3,4-DHBA) as a measure of "hydroxyl radical-like" production in transgenic amyotrophic lateral sclerosis (ALS) mice with the G93A mutation as well as littermate controls.
|
9721759 |
1998 |
|
rs80265967
|
|
|
0.100 |
GeneticVariation |
BEFREE |
There are >60 known SOD1 mutations associated with ALS and all are dominant except for one in exon 4, a D90A substitution which is recessive.
|
9817920 |
1998 |