×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis.
7655471 1995
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.
12963370 2003
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis.
9101297 1997
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
We have identified a new mutant Cu/Zn superoxide dismutase (SOD1 ) deduced from the nucleotide sequences of peripheral blood lymphocyte mRNA from Japanese patients with familial amyotrophic lateral sclerosis (FALS ).
7980516 1994
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.
7887412 1995
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis.
8938700 1996
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
These results raise the possibility that mutation of the SOD1 is responsible for FALS with broader pathological involvement.
8179602 1994
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations.
11369193 2001
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
SOD1 and amyotrophic lateral sclerosis: mutations and oligomerization.
18301754 2008
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Loss of this protection through conformational rearrangement in the metal-deficient enzyme could be a toxic property common to mutants of SOD1 linked to FALS .
12754496 2003
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Complete loss of post-translational modifications triggers fibrillar aggregation of SOD1 in the familial form of amyotrophic lateral sclerosis.
18552350 2008
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.
8907321 1996
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase.
7647793 1995
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
A SOD1 gene mutation in a patient with slowly progressing familial ALS.
10430435 1999
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.
7951252 1994
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis.
7795609 1995
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron disease.
8990014 1997
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
We conclude that the basis for the different life expectancies of patients in different kindreds of sod1 -linked FALS may result from an as yet unidentified property of these mutant enzymes.
10400992 1999
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
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
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.
21220647 2011
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Dorfin ubiquitylates mutant SOD1 and prevents mutant SOD1-mediated neurotoxicity.
12145308 2002
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.
7881433 1994
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.
14506936 2003
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
We report a novel missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD ) gene of affected members of a Japanese kindred segregating familial amyotrophic lateral sclerosis (FALS ) through at least three successive generations.
7501156 1995
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Single-site mutants in the Cu,Zn superoxide dismutase (SOD ) gene (SOD1 ) occur in patients with the fatal neurodegenerative disorder familial amyotrophic lateral sclerosis (FALS ).
8351519 1993