AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
These data suggest that NFL mRNA reductions are common to SALS and FALS patients, and that cells and mice expressing mutant SOD1 may enable us to characterize the molecular mechanism(s) responsible for the loss of neurofilament mRNA.
|
12358759 |
2002 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deciphering the loss of metal binding due to mutation D83G of human SOD1 protein causing FALS disease.
|
28899654 |
2018 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
SOD-1 associated FALS mutants may have an altered radiation response due to an enhanced generation of hydroxyl radicals or a compromised ability to neutralize free radicals.
|
10385054 |
1999 |
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 |
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 |
BEFREE |
These data suggest that CN might be a target in the pathogenesis of SOD1-linked FALS.
|
10899935 |
2000 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal-dominant familial amyotrophic lateral sclerosis (FALS) is associated with mutation in the gene that encodes Cu/Zn superoxide dismutase (SOD1).
|
10624810 |
1999 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
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 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect.
|
15258228 |
2004 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding Cu-Zn superoxide dismutase (SOD1) are one of the causes of familial amyotrophic lateral sclerosis (FALS).
|
19325915 |
2009 |
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 |
GeneticVariation
|
disease |
BEFREE |
We report a 54-year-old male with progressive and asymmetrical lower extremity weakness caused by familial amyotrophic lateral sclerosis (FALS) with a Cu/Zn superoxidase dismutase 1 (SOD1) gene mutation.
|
19922143 |
2010 |
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 |
BEFREE |
In contrast, Cu, Zn-SOD protein concentrations in RBC were low only in FALS patients.
|
15829169 |
2005 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study we have investigated the effects of over-expressing wild-type SOD1 and two mutant forms of SOD1 found in FALS, G93A and G93R, on cell survival using stably transfected neuronal cells.
|
12531528 |
2002 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial amyotrophic lateral sclerosis (FALS) has been modeled in transgenic mice by introducing mutated versions of human genomic DNA encompassing the entire gene for Cu,Zn superoxide dismutase (SOD1).
|
16046140 |
2005 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.
|
14506936 |
2003 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A transgenic (Tg) mouse model of FALS containing 25 copies of the mutant human SOD1 gene demonstrates motor neuron pathology and progressive weakness similar to ALS patients, leading to death at approximately 130 days.
|
24945277 |
2014 |
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 |
CausalMutation
|
disease |
CLINVAR |
Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS.
|
7836951 |
1994 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Point mutations in the gene encoding copper-zinc superoxide dismutase (SOD1) impart a gain-of-function to this protein that underlies 20-25% of all familial amyotrophic lateral sclerosis (FALS) cases.
|
21930207 |
2012 |
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 |
CausalMutation
|
disease |
CLINVAR |
Systematically perturbed folding patterns of amyotrophic lateral sclerosis (ALS)-associated SOD1 mutants.
|
15987780 |
2005 |
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 |
BEFREE |
Clinical characteristics of familial amyotrophic lateral sclerosis (FALS) with four different missense point mutations in exons 2, 4, and 5 of the Cu/Zn superoxide dismutase (SOD) gene were reported.
|
9210248 |
1997 |