|
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 |
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 |
Biomarker
|
disease |
BEFREE |
The findings suggest that injury induced SOD1 mutant protein induces a heightened and prolonged inflammatory response resulting in motor neuron degeneration through synaptic loss.
|
30594811 |
2019 |
|
Motor neuron atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Circuit Dysfunction in <i>SOD1-ALS</i> Model First Detected in Sensory Feedback Prior to Motor Neuron Degeneration Is Alleviated by BMP Signaling.
|
30659087 |
2019 |
|
Motor neuron atrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We used magnetic resonance imaging (MRI) technology combined with immunospin-trapping (IST) to measure in vivo free radical levels in skeletal muscle from wildtype, Sod1<sup>-/-</sup> and SynTgSod1<sup>-/-</sup> mice, a mouse model generated using targeted expression of the human Sod1 transgene specifically in neuronal tissues to determine the impact of motor neuron degeneration in muscle atrophy.
|
31470261 |
2019 |
|
Motor neuron atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
In transgenic mice overexpressing disease-causing human SOD1<sup>G37R</sup> or SOD1<sup>G93A</sup> mutations, treatment with the α-miSOD1 antibody delayed the onset of motor symptoms, extended survival by up to 2 months, and reduced aggregation of misfolded SOD1 and motor neuron degeneration.
|
30518612 |
2018 |
|
Motor neuron atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Considering the close temporal association of ALS onset with the systemic Brucella infection and consequent antigenic stimuli, we might suggest that human brucellosis might have triggered a process of motor neuron degeneration in keeping with neurobrucellosis, primarily due to parainfectious mechanism.
|
29198162 |
2018 |
|
Motor neuron atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Microglia-mediated recovery from ALS-relevant motor neuron degeneration in a mouse model of TDP-43 proteinopathy.
|
29463850 |
2018 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
Our results show that under conditions of chronic decrease in glutathione, moderate over-expression of wild-type SOD1 leads to overt motor neuron degeneration, which is similar to that induced by ALS-linked mutant hSOD1 over-expression.
|
29307609 |
2018 |
|
Motor neuron atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Sporadic amyotrophic lateral sclerosis (sALS) is the most common form of ALS, however, the molecular mechanisms underlying cellular damage and motor neuron degeneration remain elusive.
|
29881994 |
2018 |
|
Motor neuron atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
These results show that NMJ denervation in ALS is a complex and dynamic process of continuous denervation and new innervation rather than a manifestation of sudden global motor neuron degeneration.
|
30320556 |
2018 |
|
Motor neuron atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
The mutations cause misfolding and self-assembly of SOD1 into toxic oligomers and aggregates, resulting in motor neuron degeneration.
|
30110532 |
2018 |
|
Motor neuron atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
SETX ALS4 mice thus recapitulated ALS disease phenotypes in association with TDP-43 mislocalization and provided insight into the basis for TDP-43 histopathology, linking SETX dysfunction to common pathways of ALS motor neuron degeneration.
|
29725819 |
2018 |
|
Motor neuron atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Massive transcriptome sequencing of human spinal cord tissues provides new insights into motor neuron degeneration in ALS.
|
28855684 |
2017 |
|
Motor neuron atrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We focused on transcriptional regulation of glutamate transporter EAAT2, whose reduced expression may contribute to motor neuron degeneration in ALS.
|
28732762 |
2017 |
|
Motor neuron atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Juvenile onset ALS is a very rare form of motor neuron disease, with the first symptoms of motor neuron degeneration manifested before 25 years of age.
|
26972116 |
2016 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest iron as a key determinant of early motor neuron degeneration as well as proinflammatory responses at symptomatic stage in SOD1(G93A) mice.
|
26002422 |
2015 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have reported that hSOD1-G93A transgenic mice modeling this disease show a more severe phenotype when the transgene is bred on a pure SJL background and a milder phenotype when bred on a pure B6 background and that these phenotype differences link to a region on mouse Chromosome 17.To examine whether other models of motor neuron degeneration are affected by genetic background, we bred the mutant human dynactin p150Glued (G59S-hDCTN1) transgene onto inbred SJL and B6 congenic lines.
|
25763819 |
2015 |
|
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 |
Biomarker
|
disease |
BEFREE |
Our data suggest that BSCB breakdown contributes to early motor-neuron degeneration in ALS mice and that restoring BSCB integrity during an early disease phase retards the disease process.
|
24591593 |
2014 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The transgenic SOD1(G93A) mouse is a model of human amyotrophic lateral sclerosis (ALS) and recapitulates many of the pathological hallmarks observed in humans, including motor neuron degeneration in the brain and the spinal cord.
|
24239688 |
2014 |
|
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 |
|
Motor neuron atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Bioinformatics analyses identified changes in the expression of specific genes and signaling pathways that may contribute to motor neuron degeneration in ALS, among which are TGF-β signaling pathways.
|
23388633 |
2013 |
|
Motor neuron atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Widespread aggregation of mutant VAPB associated with ALS does not cause motor neuron degeneration or modulate mutant SOD1 aggregation and toxicity in mice.
|
23281774 |
2013 |