|
rs777153938
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The findings suggest an essentially normal amount and activity of D90A mutant CuZn-SOD in CNS tissues of ALS cases.
|
11408340 |
2001 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Temporal patterns of cytokine and apoptosis-related gene expression in spinal cords of the G93A-SOD1 mouse model of amyotrophic lateral sclerosis.
|
12124437 |
2002 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Transgenic overexpression of Cu(+2)/Zn(+2) superoxide dismutase 1 (SOD1) harboring an amyotrophic lateral sclerosis (ALS)-linked familial genetic mutation (SOD1(G93A)) in a Sprague-Dawley rat results in ALS-like motor neuron disease.
|
11818550 |
2002 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Therefore, we undertook to look for folding-related defects by comparing the unfolding behavior of five ALS-associated mutants with distinct structural characteristics: A4V at the interface between the N and C termini, C6F in the hydrophobic core, D90A at the protein surface, and G93A and G93C, which decrease backbone flexibility.
|
12482932 |
2002 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These results show that a loss of GLT-1 protein is not necessary for ALS-like neurodegeneration in G93A mice.
|
11790392 |
2002 |
|
rs1445888481
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Temporal patterns of cytokine and apoptosis-related gene expression in spinal cords of the G93A-SOD1 mouse model of amyotrophic lateral sclerosis.
|
12124437 |
2002 |
|
rs1475170339
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Temporal patterns of cytokine and apoptosis-related gene expression in spinal cords of the G93A-SOD1 mouse model of amyotrophic lateral sclerosis.
|
12124437 |
2002 |
|
rs80265967
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Therefore, we undertook to look for folding-related defects by comparing the unfolding behavior of five ALS-associated mutants with distinct structural characteristics: A4V at the interface between the N and C termini, C6F in the hydrophobic core, D90A at the protein surface, and G93A and G93C, which decrease backbone flexibility.
|
12482932 |
2002 |
|
rs80265967
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We propose that a cis-acting regulatory polymorphism has arisen close to D90A-SOD1 in the recessive founder, which decreases ALS susceptibility in heterozygotes and slows disease progression.
|
12442272 |
2002 |
|
rs121912437
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Therefore, we undertook to look for folding-related defects by comparing the unfolding behavior of five ALS-associated mutants with distinct structural characteristics: A4V at the interface between the N and C termini, C6F in the hydrophobic core, D90A at the protein surface, and G93A and G93C, which decrease backbone flexibility.
|
12482932 |
2002 |
|
rs1438565133
|
|
|
0.030 |
GeneticVariation |
BEFREE |
These results show that a loss of GLT-1 protein is not necessary for ALS-like neurodegeneration in G93A mice.
|
11790392 |
2002 |
|
rs760097344
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Because adeno-associated virus (AAV) has been developed as an attractive gene delivery system with proven safety, we explored the therapeutic efficacy of intramuscular delivery of the GDNF gene mediated by an AAV vector (AAV-GDNF) in the G93A mouse model of ALS.
|
12177190 |
2002 |
|
rs115796194
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Temporal patterns of cytokine and apoptosis-related gene expression in spinal cords of the G93A-SOD1 mouse model of amyotrophic lateral sclerosis.
|
12124437 |
2002 |
|
rs1380437028
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Temporal patterns of cytokine and apoptosis-related gene expression in spinal cords of the G93A-SOD1 mouse model of amyotrophic lateral sclerosis.
|
12124437 |
2002 |
|
rs121912431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
After our recent report that a deregulation of Cdk5 activity by p25 may contribute to pathogenesis of amyotrophic lateral sclerosis (ALS), we further examined the possible involvement of other Cdks in mice expressing a mutant form of superoxide dismutase (SOD1(G37R)) linked to ALS.
|
12657672 |
2003 |
|
rs121912436
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We studied the expression of mitochondrial uncoupling proteins (UCPs), key regulators of mitochondrial functions, in tissues from a mouse model of ALS (SOD1 G86R transgenic mice) and from muscular biopsies of human sporadic ALS.
|
14500553 |
2003 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The present study provides the first evidence that MnSOD immunoreactivity was increased in the central nervous system of SOD(G93A) transgenic mice, suggesting that mitochondria may play an important role in the pathogenesis and progress of ALS.
|
14568347 |
2003 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We characterized synaptosomal glutamate transport activity in a recently developed transgenic rat model of amyotrophic lateral sclerosis (ALS) overexpressing the G93A Cu(2+)/Zn(2+) superoxide dismutase (SOD1) mutation.
|
12629173 |
2003 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The release of [(3)H]D-aspartate ([(3)H]D-ASP) or [(3)H]GABA evoked by glycine from spinal cord synaptosomes was compared in mice expressing mutant human SOD1 with a Gly(93) Ala substitution ([SOD1-G93A(+)]), a transgenic model of amyotrophic lateral sclerosis, and in control mice.
|
12684256 |
2003 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The present study provides the first in vivo evidence that alpha-synuclein immunoreactivity was increased in the central nervous system of SOD(G93A) transgenic mice, suggesting that alpha-synuclein might play an important role in the pathogenesis of ALS.
|
12757887 |
2003 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Its loss was investigated in the G93A mouse model of amyotrophic lateral sclerosis (ALS) in which the mutation of Cu/Zn superoxide dismutase (SOD1) is thought to lead to aberrant oxidative damage.
|
12514200 |
2003 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We show here that the expression of caspase-11 is upregulated in the spinal cord of superoxide dismutase 1 (SOD1) G93A transgenic mice, a mouse model of amyotrophic lateral sclerosis (ALS), before the onset of motor dysfunction and remains at the high levels throughout the course of disease.
|
12843244 |
2003 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In mice that express the mutant human gene Cu/Zn superoxide dismutase G93A (SOD1), and therefore simulate the chronic human motor neuron disease amyotrophic lateral sclerosis, Cop-1 vaccination prolonged life span compared to untreated matched controls, from 211 +/- 7 days (n = 15) to 263 +/- 8 days (n = 14; P < 0.0001).
|
12668759 |
2003 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Transgenic mice overexpressing the human mutated form (G93A) of Cu,Zn-superoxide dismutase (mSOD1) develop motor neuron degeneration resembling amyotrophic lateral sclerosis.
|
14625013 |
2003 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In the present work, the excitability of motor neurons has been tested in a transgenic mouse model of a familial form of ALS, associated with a mutation in Cu,Zn superoxide dismutase (Gly(93)-->Ala).
|
14623129 |
2003 |