Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Mutations in copper-zinc superoxide dismutase (SOD1) have been linked to a subset of familial amytrophic lateral sclerosis (fALS), a fatal neurodegenerative disease characterized by progressive motor neuron death.
|
15501831 |
2004 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Recently, mutations in copper-zinc superoxide dismutase (SOD1) have been linked to familial amyotrophic lateral sclerosis (fALS), a progressive neurodegenerative disease involving motor neuron loss, paralysis and death.
|
24369116 |
2014 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Recently a tissue-specific and selective upregulation of the multidrug efflux transporter ABCB1 or P-glycoprotein (P-gp) in the spinal cord of both patients and the mutant SOD1-G93A mouse model of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease that prevalently kills motor neurons has been reported.
|
27158936 |
2016 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Repeat-associated non-AUG (RAN) translation produces toxic polypeptides from nucleotide repeat expansions in the absence of an AUG start codon and contributes to neurodegenerative disorders such as ALS and fragile X-associated tremor/ataxia syndrome.How RAN translation occurs is unknown.
|
27041225 |
2016 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Mutations of the gene encoding Cu-Zn superoxide dismutase (SOD1) cause 20% of the familial cases of the progressive neurodegenerative disease ALS.
|
17548825 |
2007 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The misfolding and aggregation of SOD1 is linked to inherited, or familial, amyotrophic lateral sclerosis (FALS), a progressive and fatal neurodegenerative disease.
|
28472188 |
2017 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Alzheimer's disease (AD), Parkinson's disease (PD), and amyotrophic lateral sclerosis with associated frontotemporal dementia (ALS/FTD) are major neurodegenerative diseases for which there are no cures.
|
26899735 |
2016 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
ALS is now understood to be a complex multisystem neurodegenerative disease because areas other than the motor cortices of the brain undergo degeneration.
|
28449882 |
2017 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Intracytoplasmic filamentous tau inclusions are neuropathological hallmarks of amyotrophic lateral sclerosis/parkinsonism-dementia complex (ALS/PDC) of Guam and the defining lesions of other neurodegenerative disorders known as tauopathies.
|
12093078 |
2002 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Similarly, the contrasting actions of NO on motor neurons may have important consequences for the potential use of nitric oxide synthase inhibitors in the treatment of ALS and other related neurodegenerative diseases.
|
9932448 |
1998 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations at dozens of sites in SOD1 induce amyotrophic lateral sclerosis (ALS), a fatal gain-of-function neurodegenerative disease whose molecular basis is unknown.
|
20184893 |
2010 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Oxidative stress plays a critical role in mutant copper/zinc superoxide dismutase 1 (SOD1)-linked amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease characterized by selective loss of motor neurons.
|
31521619 |
2019 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Mutations in the gene superoxide dismutase 1 (SOD1) are causative for familial forms of the neurodegenerative disease amyotrophic lateral sclerosis.
|
23687121 |
2013 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
The process of misfolding and aggregation of neuronal proteins such as α-synuclein, Tau, amyloid beta (Aβ), TDP-43 or SOD1 is a common hallmark of many neurodegenerative disorders and iron has been shown to facilitate protein aggregation.
|
30723395 |
2019 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Degeneration of cortical and spinal motor neurons is the typical feature of amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disease for which a pathogenetic role for the Cu/Zn superoxide dismutase (SOD1) has been demonstrated.
|
30154836 |
2018 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The finding of SOD variants in FALS is consistent with the hypothesis that free radicals contribute to the pathogenesis of FALS, and possibly to the pathogenesis of other neurodegenerative disorders such as Parkinson's disease, in which there is substantial evidence of oxidant stress.
|
7507613 |
1993 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
More than 100 different heterozygous mutations in copper/zinc superoxide dismutase (SOD1) have been found in patients with amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease.
|
12442272 |
2002 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
TDP-43 inclusions are characterized by a large spectrum of neurodegenerative diseases such as ALS and Alzheimer's.
|
29555476 |
2018 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Cyanobacteria are ubiquitous throughout the world, so it is possible that all humans are exposed to low amounts of cyanobacterial BMAA, that protein-bound BMAA in human brains is a reservoir for chronic neurotoxicity, and that cyanobacterial BMAA is a major cause of progressive neurodegenerative diseases including ALS worldwide.
|
19929726 |
2009 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
These results show that in the SOD1(G93A) model of neurodegenerative diseases, the concentration of brain glutamate (determined with (1)H-MRS) can be lowered by inhibiting in vivo the synthesis of glutamine with non-toxic doses of MSO.
|
20060132 |
2010 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Ten years ago, the linkage between mutations in the gene coding for the antioxidant enzyme Cu,Zn superoxide dismutase (SOD1) and the neurodegenerative disease known as familial amyotrophic lateral sclerosis (FALS) was established.
|
15310460 |
2004 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Mutations in Cu/Zn superoxide dismutase 1 (SOD1) lead to Amyotrophic Lateral Sclerosis (ALS), a neurodegenerative disease that disproportionately affects glutamatergic and cholinergic motor neurons.
|
30296255 |
2018 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Misfolding and aggregation of copper-zinc superoxide dismutase (Sod1) are observed in neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS).
|
24936435 |
2014 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Over the past decade, SILK studies have been used to determine the turnover of key pathogenic proteins amyloid-β (Aβ), tau and superoxide dismutase 1 (SOD1) in the cerebrospinal fluid of healthy individuals, patients with AD and those with other neurodegenerative diseases.
|
31222062 |
2019 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder and mutations in superoxide dismutase 1 (SOD1) account for 20% of familial ALS cases.
|
29409023 |
2018 |