Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Increased reactive oxygen species in familial amyotrophic lateral sclerosis with mutations in SOD1.
|
10930589 |
2000 |
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the metalloenzyme copper-zinc superoxide dismutase (SOD1) cause one form of familial amyotrophic lateral sclerosis (ALS), and metals are suspected to play a pivotal role in ALS pathology.
|
21068388 |
2011 |
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 |
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 |
Familial amyotrophic lateral sclerosis is a degenerative motor neuron disease associated in some cases with the presence of a mutant form of Cu/Zn superoxide dismutase.
|
7635196 |
1995 |
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 |
Biomarker
|
disease |
BEFREE |
The followings, for instance, are only a few of the many new biomarkers that have been recently identified: the phosphorylated tau protein and aggregated Beta-amyloid peptide for Alzheimer's disease (AD), Alpha-synuclein contained Lewy bodies and altered dopamine transporter (DAT) imaging for Parkinson's disease (PD), SOD mutations for familial amyotrophic lateral sclerosis (ALS), and CAG repeats resulted from Huntington's gene mutations in Huntington's disease (HD).
|
15538967 |
2004 |
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial amyotrophic lateral sclerosis (FALS) cases linked to SOD1 mutations may sometimes present with unusual clinical features such as pure lower motor neuron involvement or sensory signs.
|
20562451 |
2011 |
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Together with mutation of SOD1, TARDBP and FUS, mutations of C9ORF72 account for ~60% of familial amyotrophic lateral sclerosis in Italy.
|
22366794 |
2012 |
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our results suggest a cooperative role of superoxide dismutase 1, ubiquitin, and cytoskeletal proteins in the formation of granule-coated fibrils (namely, Ast-HIs) and provide evidence that Ast-HIs are formed in certain long-surviving familial amyotrophic lateral sclerosis patients with neuronal Lewy-body-like hyaline inclusions.
|
9273821 |
1997 |
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In mice expressing mutations of human superoxide dismutase -1 (SOD1) that cause some cases of familial amyotrophic lateral sclerosis (fALS), motor terminals degenerate well before the death of motor neuron cell bodies.
|
22089637 |
2011 |
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Advanced glycation endproducts are deposited in neuronal hyaline inclusions: a study on familial amyotrophic lateral sclerosis with superoxide dismutase-1 mutation.
|
10090670 |
1999 |
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
No correlation between aggregates of Cu/Zn superoxide dismutase and cell death in familial amyotrophic lateral sclerosis.
|
12358770 |
2002 |
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Stability of mutant superoxide dismutase-1 associated with familial amyotrophic lateral sclerosis determines the manner of copper release and induction of thioredoxin in erythrocytes.
|
9425258 |
1997 |
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Point mutations such as G93A and A4V in the human Cu/Zn-superoxide dismutase gene (hSOD1) cause familial amyotrophic lateral sclerosis (fALS).
|
16045483 |
2005 |
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
Induction of the unfolded protein response in familial amyotrophic lateral sclerosis and association of protein-disulfide isomerase with superoxide dismutase 1.
|
16847061 |
2006 |
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 |
Injury to motor neurons associated with mutant Cu,Zn-superoxide dismutase (SOD1)-related familial amyotrophic lateral sclerosis (FALS) results from a toxic gain-of-function of the enzyme.
|
12475980 |
2003 |
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial amyotrophic lateral sclerosis (ALS) accounts for 10% of all ALS cases; approximately 25% are due to mutations in the Cu/Zn superoxide dismutase gene (SOD1).
|
16174551 |
2006 |
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 |
A new variant Cu/Zn superoxide dismutase (Val7-->Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis.
|
7980516 |
1994 |
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In many of autosomal dominant diseases such as familial amyotrophic lateral sclerosis (ALS) with SOD1 mutation, a missense point mutation may induce the disease by its gain of adverse property.
|
14715277 |
2004 |
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutant SOD1 linked to familial amyotrophic lateral sclerosis, but not wild-type SOD1, induces ER stress in COS7 cells and transgenic mice.
|
12659845 |
2003 |
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We examined 11 subjects with inherited amyotrophic lateral sclerosis (familial amyotrophic lateral sclerosis, FALS) associated with the most common copper/zinc superoxide dismutase 1 (SOD1) mutation, an alanine for valine substitution in codon 4 (A4V).Autopsies were performed on 5 subjects.
|
9629839 |
1998 |
Amyotrophic Lateral Sclerosis, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the superoxide dismutase (SOD1) gene account for ∼15% and in the transactive response DNA binding protein (TARDBP) gene for ∼5% of familial amyotrophic lateral sclerosis (FALS) cases.
|
26630559 |
2016 |