|
rs121912445
|
|
|
0.720 |
GeneticVariation |
BEFREE |
These results suggest that FALS from this novel I104F mutation shows considerable clinical variation.
|
7501156 |
1995 |
|
rs121912443
|
|
|
0.890 |
GeneticVariation |
BEFREE |
In order to get a better insight into the mechanism(s) underlying the FALS phenotype, we have investigated the activity and the copper binding properties of the single mutant H46R, which is associated with a Japanese form of FALS.
|
7805862 |
1994 |
|
rs121912436
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Assay by transient expression in primate cells of six FALS mutant enzymes revealed a continuum of enzymatic activity bounded by the enzyme carrying the mutation Gly-85-->Arg, which was inactive, and mutant enzyme G37R carrying the Gly-37-->Arg change, which retained full specific activity but displayed a 2-fold reduction in polypeptide stability.
|
8058797 |
1994 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
BEFREE |
We have discovered a novel missense mutation (substitution of Thr for Ala4) in exon 1 (GCC to ACC) in two FALS patients from one Japanese FALS family.
|
8179602 |
1994 |
|
rs74315452
|
|
|
0.810 |
GeneticVariation |
BEFREE |
We report the coexistence of an Ile113-->Thr substitution in exon 4 of the SOD1 gene and marked neurofilamentous pathology in the same FALS patient.
|
8572658 |
1996 |
|
rs121912452
|
|
|
0.810 |
GeneticVariation |
BEFREE |
In FALS with the L84V mutation, while the clinical course of the disease was similar, the age at onset was younger in men than women.
|
8815157 |
1996 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
BEFREE |
These results suggest that the Ala4Thr mutation in SOD1 decreases the stability of SOD1 and that this instability may play an important role in the pathogenesis of the degeneration of motor neurons in FALS.
|
8830861 |
1996 |
|
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 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We found significant increases in concentrations of 3-nitrotyrosine, a marker of peroxynitrite-mediated nitration, in upper and lower spinal cord and in cerebral cortex of transgenic mice with the FALS-associated G93A mutation.
|
9307254 |
1997 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We have set up a model system for familial amyotrophic lateral sclerosis (FALS) by transfecting human neuroblastoma cell line SH-SY5Y with plasmids directing constitutive expression of either wild-type human Cu,Zn superoxide dismutase (Cu,ZnSOD) or a mutant of this enzyme (G93A) associated with FALS.
|
9315720 |
1997 |
|
rs1476760624
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Expression of two FALS-related mutant SODs (A4V and V148G) caused death of differentiated PC12 cells, superior cervical ganglion neurons, and hippocampal pyramidal neurons.
|
9348345 |
1997 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Based on the temporal correlation of these impairments with the onset of motor weakness and the appearance of NF inclusions and vacuoles in vulnerable motor neurons, the latter lesions may be the proximal cause of motor neuron dysfunction and degeneration in the G93A mice and in FALS patients with SOD1 mutations.
|
9382875 |
1997 |
|
rs121912431
|
|
|
0.890 |
GeneticVariation |
BEFREE |
We analyzed mutant superoxide dismutase-1 (SOD-1) in erythrocytes from patients with familial amyotrophic lateral sclerosis (FALS) by using ion exchange chromatography and HPLC/electrospray ionization mass spectrometry and were able to divide mutant SOD-1 proteins into a stable form including G37R and H46R, and an unstable form including I149T and a two base pair deletion mutant.
|
9425258 |
1997 |
|
rs121912443
|
|
|
0.890 |
GeneticVariation |
BEFREE |
We analyzed mutant superoxide dismutase-1 (SOD-1) in erythrocytes from patients with familial amyotrophic lateral sclerosis (FALS) by using ion exchange chromatography and HPLC/electrospray ionization mass spectrometry and were able to divide mutant SOD-1 proteins into a stable form including G37R and H46R, and an unstable form including I149T and a two base pair deletion mutant.
|
9425258 |
1997 |
|
rs1424014997
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We analyzed mutant superoxide dismutase-1 (SOD-1) in erythrocytes from patients with familial amyotrophic lateral sclerosis (FALS) by using ion exchange chromatography and HPLC/electrospray ionization mass spectrometry and were able to divide mutant SOD-1 proteins into a stable form including G37R and H46R, and an unstable form including I149T and a two base pair deletion mutant.
|
9425258 |
1997 |
|
rs121912431
|
|
|
0.890 |
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 |
|
rs121912437
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Three familial amyotrophic lateral sclerosis (FALS)-associated mutant Cu,ZnSODs, i.e., E100G, G93A, and G93R, did not differ from the control enzyme in susceptibility to inactivation by H2O2.
|
9587411 |
1998 |
|
rs121912439
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Three familial amyotrophic lateral sclerosis (FALS)-associated mutant Cu,ZnSODs, i.e., E100G, G93A, and G93R, did not differ from the control enzyme in susceptibility to inactivation by H2O2.
|
9587411 |
1998 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In the present study, we analyzed the extent of oxidative injury to lumbar and cervical spinal cord proteins in transgenic FALS mice that overexpress the SOD1 mutation [TgN(SOD1-G93A)G1H] in comparison with nontransgenic mice.
|
9798929 |
1998 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We cloned the cDNA for the FALS G93A mutant, overexpressed the protein in E. coli cells, purified the protein, and studied its enzymic activities.
|
10102580 |
1999 |
|
rs121912448
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The illness showed rapid progression similarly to the FALS with a mutation of Cys6Phe that was reported by Morita et al.
|
10624810 |
1999 |
|
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 |
|
rs121912432
|
|
|
0.810 |
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 |
|
rs121912431
|
|
|
0.890 |
GeneticVariation |
BEFREE |
Transfection of these cell lines with DNA encoding two mutant SOD1 enzymes (G37R and G85R) associated with familial amyotrophic lateral sclerosis (FALS), produced similar, but more severe changes, i.e. even lower growth rates, higher lipid peroxidation, 3-nitrotyrosine and protein carbonyl levels, decreased GSH levels, raised GSSG levels and higher glutathione peroxidase activities.
|
11181815 |
2001 |
|
rs121912436
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Transfection of these cell lines with DNA encoding two mutant SOD1 enzymes (G37R and G85R) associated with familial amyotrophic lateral sclerosis (FALS), produced similar, but more severe changes, i.e. even lower growth rates, higher lipid peroxidation, 3-nitrotyrosine and protein carbonyl levels, decreased GSH levels, raised GSSG levels and higher glutathione peroxidase activities.
|
11181815 |
2001 |