rs369947678
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
This finding highlights the utility of the SOD1-G93A transgenic mouse model for preclinical drug studies in ALS.
|
9419057 |
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 |
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 |
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 |
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 |
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 |
rs946135215
|
|
|
0.010 |
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 |
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 |
rs377633002
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The A79G sequence variant was not found in 55 patients with ALS or in 50 non-neurological controls.
|
9771796 |
1998 |