|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
A combination of size-exclusion chromatography and water-catalyzed fluorescent emission was utilized to probe the structural features of metastable SOD1 nonnative trimers, the potential neurotoxic species in the fALS.
|
31734464 |
2020 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Therefore, despite for the majority of cases there is a difference in the mode of inheritance between fALS and DM, a similar interaction between wild-type and mutant SOD1 forms can occur.
|
31336405 |
2019 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Despite the genetic heterogeneity reported in familial amyotrophic lateral sclerosis (ALS) (fALS), Cu/Zn superoxide-dismutase (SOD1) gene mutations are the second most common cause of the disease, accounting for around 20% of all families (ALS1) and isolated sporadic cases (sALS).
|
31781168 |
2019 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in superoxide dismutase 1 (SOD1) cause 15-20% of familial amyotrophic lateral sclerosis (fALS) cases.
|
30602569 |
2019 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
While SOD1 has mostly been studied in the context of familial amyotrophic lateral sclerosis (fALS), recent studies suggest that SOD1 may be a potentially important mediator of the UPR<sup>mt</sup> and converge to emphasize an increasingly vital role of SOD1 as a therapeutic target in cancer.
|
31028834 |
2019 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Non-natively folded variants of superoxide dismutase 1 (SOD1) are thought to contribute to the pathogenesis of familial amyotrophic lateral sclerosis (ALS), however the relative toxicities of these variants are controversial.
|
31040321 |
2019 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We characterized the response to the extremely low frequency magnetic field (ELF-MF) in an in vitro model of familial Amyotrophic Lateral Sclerosis (fALS), carrying two mutant variants of the superoxide dismutase 1 (SOD1) gene.
|
30513241 |
2019 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in superoxide dismutase (SOD1) are the second most common cause of familial amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease caused by the death of motor neurons in the brain and spinal cord.
|
31474832 |
2019 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Approximately 5% to 10% of patients with ALS have a family history of the disease, and approximately 20% of familial amyotrophic lateral sclerosis (fALS) cases are associated with mutations in Cu/Zn superoxide dismutase (SOD1).
|
31134679 |
2019 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We tested the efficacy of CuATSM on 10 SOD1-fALS mutants and found that while protection was observed in cells expressing pathogenic wild-type-like mutants, cells expressing a truncation mutant or metal binding region mutants were not.
|
30462490 |
2019 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous variants in SOD1 are a common cause of familial amyotrophic lateral sclerosis.
|
31332433 |
2019 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene encoding superoxide dismutase 1 (SOD1) lead to misfolding and aggregation of SOD1 and cause familial amyotrophic lateral sclerosis (FALS).
|
30518612 |
2018 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here, we used in vitro protein assays to demonstrate that a W32S substitution in SOD1-fALS mutants significantly diminishes their propensity to aggregate whilst paradoxically decreasing protein stability.
|
30349065 |
2018 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
SOD1 Mutations Causing Familial Amyotrophic Lateral Sclerosis Induce Toxicity in Astrocytes: Evidence for Bystander Effects in a Continuum of Astrogliosis.
|
28861673 |
2018 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hence, the inhibition of mutant SOD1 aggregation by kaempferol was explored, thereby suggesting kaempferol could act as a drug candidate for the design of the natural therapeutics against fALS.© 2018 BioFactors, 44(5):431-442, 2018.
|
30260512 |
2018 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
We propose that these non-genetic factors underlie the misfolding and dysfunction of SOD1 and other proteins in both PD and fALS, constituting a shared and tractable pathway to neurodegeneration.
|
29861271 |
2018 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations at twenty-one charged residues in SOD1 have been associated with fALS, but of the 11 Lys residues in the protein, only 1 has been identified as mutated in ALS patients.
|
30399166 |
2018 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
It is also known that about 20% of familial amyotrophic lateral sclerosis (fALS) is due to mutations in the gene coding for SOD1.
|
29881358 |
2018 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Abnormal modifications to mutant superoxide dismutase 1 (SOD1) are linked to familial amyotrophic lateral sclerosis (fALS).
|
30038021 |
2018 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Expansion of a hexanucleotide repeat (HRE), GGGGCC, in the C9ORF72 gene is recognized as the most common cause of familial amyotrophic lateral sclerosis (FALS), frontotemporal dementia (FTD) and ALS-FTD, as well as 5-10% of sporadic ALS.
|
29792928 |
2018 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We identified a missense alanine to valine mutation at codon 4 (A4V) in the Cu/Zn superoxide dismutase (SOD1) gene in a 51-year-old male of Chinese origin with familial amyotrophic lateral sclerosis (ALS).
|
29564924 |
2018 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Cu/Zn-superoxide dismutase (SOD1) gene are linked to 10-20% of familial amyotrophic lateral sclerosis (fALS) cases.
|
30110532 |
2018 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
When Cu/Zn superoxide dismutase (SOD1), an anti-oxidative enzyme, undergoes misfolding, fibrillar aggregates are formed, which are a hallmark of a certain form of familial amyotrophic lateral sclerosis (ALS).
|
30289953 |
2018 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel D90_K91insN mutation in exon 4 of the SOD1 gene caused familial amyotrophic lateral sclerosis in a Chinese pedigree.
|
29609497 |
2018 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Some fALS-linked mutations impair zinc binding and cause SOD1 to irreversibly unfold, likely forming the precursor of cytotoxic aggregates.
|
29869502 |
2018 |