|
rs121912431
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Using a motor neuron disease mouse model expressing human SOD1-G37R, we herein report the immunogenicity and therapeutic efficacy of two ALS vaccines, tgG-DSE2lim and tgG-DSE5b, based on the notion that native SOD1 would undergo early unfolding in disease to present "disease specific epitopes" (DSE).
|
31324499 |
2019 |
|
rs121912431
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
|
rs121912431
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The establishment of this SOD1-G37R cDNA transgenic model indicates that expression of mutant SOD1 proteins in the neuromuscular unit is sufficient to cause motor neuron disease.
|
16046140 |
2005 |
|
rs121912431
|
|
|
0.740 |
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
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Four lines of mice accumulating one of these mutant proteins (G37R) develop severe, progressive motor neuron disease.
|
7605627 |
1995 |
|
rs1131690781
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
|
rs121912437
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
|
rs121912439
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
|
rs121912441
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Using a mouse model expressing a mutant SEMA3A with diminished signaling capacity, we studied the influence of SEMA3A signaling at the NMJ with two denervation paradigms; a motor neuron disease model (the G93A-hSOD1 ALS mouse line) and an injury model (BotoxA-induced paralysis).
|
28103314 |
2017 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Here, to investigate the role of proliferating cells in motor neuron disease, SOD1(G93A) transgenic mice were treated intracerebroventicularly (i.c.v.) with the anti-mitotic drug cytosine arabinoside (Ara-C).I.c.v. delivery of Ara-C accelerated disease progression in SOD1(G93A) mouse model of ALS.
|
22523565 |
2012 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To establish the timeframe of motor neuron degeneration in relation to muscle atrophy in motor neuron disease, we have used MRI to monitor changes throughout disease in brain and skeletal muscle of G93A-SOD1 mice, a purported model of ALS.
|
21620832 |
2011 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We next applied CME repeatedly to living Wld(S) mice and to SOD1(G93A) mice, an animal model of motor neuron disease, and observed degeneration of identified neuromuscular synapses over a 1-4day period in both of these mutant lines.
|
19683573 |
2009 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To test whether ALS2 plays a protective role against mutant SOD1-mediated motor neuron degeneration in vivo, we examined the progression of motor neuron disease in SOD1(G93A) mice on an ALS2 null background.
|
16973244 |
2007 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Here we determined that dysregulated redox stress in ALS mice caused by NADPH oxidases Nox1 and Nox2 significantly influenced the progression of motor neuron disease caused by mutant SOD1(G93A) expression.
|
17853944 |
2007 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mice that overexpress the human Cu,Zn superoxide dismutase-1 mutant G93A develop a delayed and progressive motor neuron disease similar to human amyotrophic lateral sclerosis (ALS).
|
16049935 |
2005 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To determine where and when the pathological changes of motor neuron disease begins, we performed a comprehensive spatiotemporal analysis of disease progression in SOD1(G93A) mice.
|
14736504 |
2004 |
|
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 |
These findings suggest that the expression of the SOD1(G93A G1H) mutant protein results in a disease that resembles the late stages of human motor neuron disease.
|
12384220 |
2002 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Nevertheless, four of the 22 G93A/p53-/- mice succumbed to MND after 160+/-28 days, as expected under these conditions of competing death risks if the absence of p53 fails to protect from MND.
|
11011020 |
2000 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In the present study, we investigated the time course of microglial (major histocompatibility-II antigen immunoreactivity) and astrocytic (glial fibrillary acidic protein immunoreactivity) activation in relation to the course of motor neuron disease in the TgN(SOD1-G93A)G1H FALS mice.
|
9633809 |
1998 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The onset of MND was delayed in these mice compared to the original G93A mice, but they developed the same neuropathologic abnormalities seen in the original G93A mice, albeit at a later time point with fewer vacuoles and more NF inclusions.
|
9382875 |
1997 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Transgenic mice (line G1H) expressing a human SOD1 containing a mutation of Gly-93 --> Ala (G93A) develop a motor neuron disease similar to familial amyotrophic lateral sclerosis, but transgenic mice (line N1029) expressing a wild-type human SOD1 transgene do not.
|
8610185 |
1996 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Expression of high levels of human SOD containing a substitution of glycine to alanine at position 93--a change that has little effect on enzyme activity--caused motor neuron disease in transgenic mice.
|
8209258 |
1994 |
|
rs121912443
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We found that peroxidized Cys111 of H46R SOD1 plays a role in promoting formation of high molecular weight insoluble SOD1 species that is correlated with the progression of the motor neuron disease phenotype.
|
25762155 |
2015 |