|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
"""Sporadic"" motoneuron disease due to familial SOD1 mutation with low penetrance."
|
7997024 |
1995 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
"""True"" sporadic ALS associated with a novel SOD-1 mutation."
|
12402272 |
2002 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan.
|
10732812 |
1997 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel L67P SOD1 mutation in an Italian ALS patient.
|
21247266 |
2011 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron disease.
|
8990014 |
1997 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis.
|
7795609 |
1995 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel SOD mutant and ALS.
|
7700376 |
1995 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel SOD1 gene mutation in familial ALS with low penetrance in females.
|
11535232 |
2001 |
|
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 |
A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.
|
8907321 |
1996 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A SOD1 gene mutation in a patient with slowly progressing familial ALS.
|
10430435 |
1999 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.
|
12963370 |
2003 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase.
|
7647793 |
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 |
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 |
Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.
|
7881433 |
1994 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
Complete loss of post-translational modifications triggers fibrillar aggregation of SOD1 in the familial form of amyotrophic lateral sclerosis.
|
18552350 |
2008 |
|
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 |
Copper depletion increases the mitochondrial-associated SOD1 in neuronal cells.
|
21140194 |
2011 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.
|
15056757 |
2004 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Dorfin ubiquitylates mutant SOD1 and prevents mutant SOD1-mediated neurotoxicity.
|
12145308 |
2002 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).
|
9455977 |
1997 |
|
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 |
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 |