|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Overexpression of metallothionein-I, a copper-regulating protein, attenuates intracellular copper dyshomeostasis and extends lifespan in a mouse model of amyotrophic lateral sclerosis caused by mutant superoxide dismutase-1.
|
24163136 |
2014 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Structural and biophysical properties of the pathogenic SOD1 variant H46R/H48Q.
|
19227972 |
2009 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Circular dichroism measurements revealed that the FALS mutant SODs are sensitive to denaturation by dithiothreitol, SDS, or heat treatment, but these results do not completely explain the different recognition by the mAbs between wild-type and FALS mutant SODs under the denatured conditions.
|
15522870 |
2005 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Modification of cysteine 111 in Cu/Zn superoxide dismutase results in altered spectroscopic and biophysical properties.
|
15096637 |
2004 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Familial amyotrophic lateral sclerosis with a novel Leu126Ser mutation in the copper/zinc superoxide dismutase gene showing mild clinical features and lewy body-like hyaline inclusions.
|
11346368 |
2001 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Copper depletion increases the mitochondrial-associated SOD1 in neuronal cells.
|
21140194 |
2011 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Fibrillar inclusions and motor neuron degeneration in transgenic mice expressing superoxide dismutase 1 with a disrupted copper-binding site.
|
12127151 |
2002 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Screening for candidate modifier genes that might be responsible for the early onset and severe course of the disease in the 25-year-old patient revealed an additional homozygous mutation of the CNTF gene not found in his yet unaffected sister. hSOD-1G93A mice were crossbred with CNTF(-/-) mice and were investigated with respect to disease onset and duration, to test the hypothesis that CNTF acts as a candidate modifier gene in FALS with mutations in the SOD-1 gene.
|
11951178 |
2002 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
The G37R, one of the many SOD1 mutations known to be associated to FALS, is difficult to be reconciled with this model because it is located far from the metal sites and the monomer-monomer interface.
|
20485746 |
2010 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Heat shock factor 1 over-expression protects against exposure of hydrophobic residues on mutant SOD1 and early mortality in a mouse model of amyotrophic lateral sclerosis.
|
24256636 |
2013 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Conformational Disorder of the Most Immature Cu, Zn-Superoxide Dismutase Leading to Amyotrophic Lateral Sclerosis.
|
26694608 |
2016 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Familial amyotrophic lateral sclerosis (FALS)-linked mutations in copper-zinc superoxide dismutase (SOD1) cause motor neuron death through one or more acquired toxic properties.
|
11796754 |
2002 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Fully metallated S134N Cu,Zn-superoxide dismutase displays abnormal mobility and intermolecular contacts in solution.
|
16105836 |
2005 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Ligand binding and aggregation of pathogenic SOD1.
|
23612299 |
2013 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Transfection of these cell lines with DNA encoding two mutant SOD1 enzymes (G37R and G85R) associated with familial amyotrophic lateral sclerosis (FALS), produced similar, but more severe changes, i.e. even lower growth rates, higher lipid peroxidation, 3-nitrotyrosine and protein carbonyl levels, decreased GSH levels, raised GSSG levels and higher glutathione peroxidase activities.
|
11181815 |
2001 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Functional role of caspase-1 and caspase-3 in an ALS transgenic mouse model.
|
10764647 |
2000 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Familial amyotrophic lateral sclerosis (FALS) has been linked in some families to dominant mutations of the SOD1 gene encoding Cu,Zn superoxide dismutase (Cu,ZnSOD).
|
8967745 |
1996 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Mutations in the lysyl oxidase gene are not associated with amyotrophic lateral sclerosis.
|
11675877 |
2001 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Antisense peptide nucleic acid targeting GluR3 delays disease onset and progression in the SOD1 G93A mouse model of familial ALS.
|
15264227 |
2004 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The D90A mutation results in a polymorphism of Cu,Zn superoxide dismutase that is prevalent in northern Sweden and Finland.
|
7655469 |
1995 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4.
|
7655468 |
1995 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.
|
19741096 |
2009 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China.
|
27604643 |
2016 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.
|
9131652 |
1997 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
|
8528216 |
1995 |