|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
ALS-associated mutant SOD1G93A causes mitochondrial vacuolation by expansion of the intermembrane space and by involvement of SOD1 aggregation and peroxisomes.
|
12864925 |
2003 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Axonal mitochondrial clusters containing mutant SOD1 in transgenic models of ALS.
|
19344250 |
2009 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Evidence from patients with sporadic and familiar amyotrophic lateral sclerosis (ALS) and from models based on the overexpression of mutant SOD1 found in a small subset of patients, clearly point to mitochondrial damage as a relevant facet of this neurodegenerative condition.
|
22705710 |
2013 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that EBGP containing the active ingredient against mutant SOD1-mediated toxicity is a promising medicine or health food for prevention and treatment of ALS.
|
28588226 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A 20% of familial ALS cases are associated with mutations in the gene coding for superoxide dismutase 1 (SOD1).
|
31176720 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we investigated neurodegenerative changes including neuronal loss and glia pathology in the anterodorsal thalamic nucleus (AD) of SOD1(G93A) mice, a widely used animal model for ALS.
|
27880990 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, mutant FUS-induced impairment of FAT in squid axoplasm and of axonal outgrowth in mammalian primary motor neurons involved aberrant activation of the p38 MAPK pathway, as also reported for ALS-linked forms of Cu, Zn superoxide dismutase (SOD1).
|
28273913 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we report that two independent ALS-linked autophagy-associated gene products; SQSTM1/p62 and ALS2/alsin, but not antioxidant-related factor; NFE2L2/Nrf2, are implicated in the pathogenesis in mutant SOD1 transgenic ALS models.
|
27439389 |
2016 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Several ALS genes have been identified as their mutations can lead to familial ALS, including the recently reported RNA-binding protein fused in sarcoma (Fus).
|
22443542 |
2012 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel SOD1 N86K mutation is associated with a severe phenotype in familial ALS.
|
17299743 |
2007 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our findings first demonstrate that small-diameter DRG neurons of the ALS mouse model SOD1(G93A)display axonal stress in vitro and in vivo, thus sustaining the hypothesis that the effects of ALS disease spread beyond motor neurons.
|
26908600 |
2016 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The comparability of the findings in sALS patients and in the hSOD1-G93A transgenic mouse model suggests that the examined genes may play a specific role in the pathogenesis of ALS.
|
18651250 |
2009 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cu/Zn superoxide dismutase (SOD1) gene mutations have been reported in familial and sporadic amyotrophic lateral sclerosis (ALS).
|
21545237 |
2011 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This panoply of mutant SOD1-induced destructive events favours recruitment of astrocytes to non-cell autonomous injury in ALS.
|
28861673 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hence, the combined biophysical and quantum chemical studies in our study supported the results of previous experimental studies, thereby stipulating an action of resveratrol on mutant SOD1 and paving a way for the design of highly potent effective inhibitors against fALS affecting the mankind.
|
30368622 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our aim was to investigate whether TARDBP is a candidate disease gene for familial ALS that is not associated with mutations in superoxide dismutase 1 (SOD1).
|
18396105 |
2008 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We did not observe any detrimental effect associated with the lack of Nrf2 in two different mutant hSOD1 animal models of ALS.
|
23418589 |
2013 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, we report a novel missense SOD1 mutation with a substitution of tryptophan for cysteine at the seventh amino acid (p.C7W, traditionally named p.C6W) based on HUGO Gene Nomenclature in a familial ALS pedigree.
|
24094577 |
2014 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
On one side, oxidative stress, mitochondrial damage and protein aggregation are considered as causative of the disease, as strongly supported by evidence obtained in models based on the expression of ALS-typical mutant SOD1.
|
27150074 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The effects were greatest in cells derived from patients carrying ALS-linked mutations in SOD1.
|
30863976 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sustained treatment of mice expressing G93A SOD1 mutation with P110, beginning at the onset of disease symptoms at day 90, produced an improvement in motor performance and survival, suggesting that Drp1 hyperactivation may be an attractive target in the treatment of ALS patients.
|
29335339 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Overview of Impaired BDNF Signaling, Their Coupled Downstream Serine-Threonine Kinases and SNARE/SM Complex in the Neuromuscular Junction of the Amyotrophic Lateral Sclerosis Model SOD1-G93A Mice.
|
30929165 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Central motor conduction is normal in ALS but uniquely slow in the D9OA SOD1 mutation.
|
11442323 |
2001 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Protein interactions of the Amyotrophic Lateral Sclerosis (ALS)-linked copper-zinc superoxide dismutase (hSOD1) G93A mutation were studied using a fluorescence resonance energy transfer (FRET) based screening system.
|
18652897 |
2008 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Generation of an induced pluripotent stem cell line, ICGi014-A, by reprogramming peripheral blood mononuclear cells from a patient with homozygous D90A mutation in SOD1 causing Amyotrophic lateral sclerosis.
|
31830646 |
2020 |