|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is considered to be the first description of an autopsy case of FALS with an I104F SOD1 gene mutation, suggesting that combination of marked intra-familial clinical variability and multisystem degeneration with occurrence of CIs and SOD1-positive NCIs is a characteristic feature of FALS with this SOD1 gene mutation.
|
27444855 |
2017 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Is SOD1 loss of function involved in amyotrophic lateral sclerosis?
|
23687121 |
2013 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Influence of cephalosporin antibiotics on blood coagulation and platelet function.
|
1259395 |
1976 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
"Hereditary motor neuron disease in a large Norwegian family with a ""H46R"" substitution in the superoxide dismutase 1 gene."
|
22475618 |
2012 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
These studies indicate that SOD1 activity is reduced in these FALS patients but not in sporadic ALS patients.
|
8263541 |
1994 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial amyotrophic lateral sclerosis (FALS) has been linked to mutations in the homodimeric enzyme Cu/Zn superoxide dismutase 1 (SOD1).
|
8058797 |
1994 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
While it may be that FALS is a consequence of loss of SOD1 function, it is also possible that motor neuron death in this dominantly inherited disease occurs because the mutations confer an additional, cytotoxic function on the SOD1 protein.
|
7951249 |
1994 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis.
|
7655471 |
1995 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Some cases of autosomal dominant familial amyotrophic lateral sclerosis (FALS) are associated with mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1), suggesting that oxidative damage may play a role in ALS pathogenesis.
|
9349552 |
1997 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The results show a significant decrease in Cu,Zn SOD activity in affected and at risk FALS individuals as compared to FALS patients without mutations, SALS individuals, normal and neurological controls.
|
7595631 |
1995 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Several point mutations in the gene coding for human Cu,Zn superoxide dismutase have been reported as being responsible for familial amyotrophic lateral sclerosis (FALS).
|
7805862 |
1994 |
|
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 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Familial amyotrophic lateral sclerosis in Alberta, Canada.
|
23286750 |
2013 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We propose that the decrease of SOD1 activity and increased copper ions play a role in the neuronal death in this FALS.
|
9088386 |
1997 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 |
GeneticVariation
|
disease |
BEFREE |
Cu,Zn-superoxide dismutase (SOD) is known to be a locus of mutation in familial amyotrophic lateral sclerosis (FALS).
|
8650157 |
1996 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The G41D mutation in the superoxide dismutase 1 gene is associated with slow motor neuron progression and mild cognitive impairment in a Chinese family with amyotrophic lateral sclerosis.
|
26069299 |
2016 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Disulfide-reduced ALS variants of Cu, Zn superoxide dismutase exhibit increased populations of unfolded species.
|
20184893 |
2010 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Many of the SOD1 mutations associated with FALS appear to increase the likelihood that the enzyme will perform either one of these potentially harmful functions resulting in increased hydroxyl radical formation or the addition of nitro groups to tyrosine residues within cellular proteins.
|
11474839 |
2001 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Distinctive clinicopathological features of 2 large families with amyotrophic lateral sclerosis having L106V mutation in SOD1 gene.
|
22647583 |
2012 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These deficits were absent in SOD1 FALS patients.
|
19252762 |
2009 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Dominant inheritance of point mutations in CuZn superoxide dismutase (SOD1) is the best characterized subset of familial amyotrophic lateral sclerosis (FALS) and accounts for some 20% of the known familial cases.
|
20067275 |
2010 |