|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Whereas familial ALS is well represented by transgenic mutant SOD1 mouse models, the mouse mutant wobbler (WR) develops progressive motor neuron degeneration due to a point mutation in the Vps54 gene, and provides an animal model for sporadic ALS.
|
21385376 |
2011 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Acute glial activation by stab injuries does not lead to overt damage or motor neuron degeneration in the G93A mutant SOD1 rat model of amyotrophic lateral sclerosis.
|
20005223 |
2010 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The mechanism whereby mutant SOD1 induces motor neuron degeneration is not understood but widespread mitochondrial vacuolation has been observed during early phases of motor neuron degeneration.
|
12864925 |
2003 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutant SOD1 causes a complex array of pathological events, through toxic gain of function mechanisms, leading to selective motor neuron degeneration.
|
22049426 |
2011 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Astrocytes carrying the superoxide dismutase 1 (SOD1G93A) mutation induce wild-type motor neuron degeneration in vivo.
|
21969586 |
2011 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
More than 100 different mutations in the gene encoding Cu,Zn-superoxide dismutase (SOD1) cause preferential motor neuron degeneration in familial amyotrophic lateral sclerosis (ALS).
|
15958382 |
2005 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this overview article we review the current understanding of mutant SOD1-mediated motor neuron degeneration in ALS with focus on oxidative damage and mitochondrial dysfunction.
|
19399611 |
2009 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SOD1 mutant-mediated endothelial damage accumulated before motor neuron degeneration and the neurovascular inflammatory response occurred, indicating that it was a central contributor to disease initiation.
|
18344992 |
2008 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
While previous studies have demonstrated reductions in GLT1 with SOD1-mediated disease progression, it is not well established whether a reduction in this astrocyte-specific transporter alters the pathobiology of motor neuron degeneration in the SOD1(G93A) mouse.
|
16753145 |
2006 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report here that rats that express a human SOD1 transgene with two different ALS-associated mutations (G93A and H46R) develop striking motor neuron degeneration and paralysis.
|
16382787 |
2005 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Insights into the effects of Derlin-1 on mutant SOD1 may facilitate advancements in the treatment of motor neuron degeneration associated with ALS.
|
21185345 |
2011 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Toxic gain-of-function (not loss-of-function) of SOD1 mutants causes motor neuron degeneration.
|
30831216 |
2019 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Transplantation of glial-rich neural progenitors has been demonstrated to attenuate motor neuron degeneration and disease progression in rodent models of mutant superoxide dismutase 1 (SOD1)-mediated amyotrophic lateral sclerosis (ALS).
|
25254338 |
2014 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These studies suggest motor neuron degeneration in the mutant SOD1 transgenic mice is associated with TDP-43 histopathology.
|
19379791 |
2009 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Subsequently, we implemented a novel approach to amplify the endogenous Treg population using peripheral injections of interleukin 2/interleukin 2 monoclonal antibody complexes (IL-2c) in transgenic mice that expressed mutant superoxide dismutase 1 (SOD1), a gene associated with motor neuron degeneration.
|
29507931 |
2018 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The resulting amino acid substitutions destabilize SOD1's protein structure, leading to its self-assembly into neurotoxic oligomers and aggregates, a process hypothesized to cause the characteristic motor-neuron degeneration in affected individuals.
|
30602569 |
2019 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutant superoxide dismutase 1 causes motor neuron degeneration independent of cyclin-dependent kinase 5 activation by p35 or p25.
|
15009685 |
2004 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Approximately 20% of familial ALS cases have been linked to mutations in the copper/zinc superoxide dismutase (SOD1) gene, but it is unclear how mutations in the protein result in motor neuron degeneration.
|
22249462 |
2012 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that the H1/H2 polymorphism in MAPT is not associated with human amyotrophic lateral sclerosis, and that lowering tau levels in the mutant SOD1 mouse does not affect the motor neuron degeneration in these animals.
|
20498436 |
2010 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that the misfolding of ALS-related mutant SOD1 induces ER stress possibly prior to the formation of visible aggregates, which may contribute to the motor neuron degeneration in ALS pathogenesis.
|
18233996 |
2008 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our findings indicate that the process of motor neuron degeneration in mutant SOD1 transgenic mice is unlikely to involve the abnormalities of TDP-43 described in the human disease.
|
17543992 |
2007 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Motor neuron degeneration in amyotrophic lateral sclerosis mutant superoxide dismutase-1 transgenic mice: mechanisms of mitochondriopathy and cell death.
|
17099894 |
2007 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Cu,Zn-superoxide dismutase (mtSOD1) cause familial amyotrophic lateral sclerosis (FALS), a neurodegenerative disease resulting from motor neuron degeneration.
|
23760509 |
2013 |