×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China.
27604643 2016
×
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
A novel L67P SOD1 mutation in an Italian ALS patient.
21247266 2011
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.
19741096 2009
×
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
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
Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.
18378676 2008
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.
15056757 2004
×
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
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
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
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
"""True"" sporadic ALS associated with a novel SOD-1 mutation."
12402272 2002
×
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
A novel SOD1 gene mutation in familial ALS with low penetrance in females.
11535232 2001
×
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
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
Subunit asymmetry in the three-dimensional structure of a human CuZnSOD mutant found in familial amyotrophic lateral sclerosis.
9541385 1998
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.
9131652 1997
×
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
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
A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan.
10732812 1997
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).
9455977 1997
×
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
A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.
8907321 1996