|
rs121912438
|
|
C |
0.900 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
"""True"" sporadic ALS associated with a novel SOD-1 mutation."
|
12402272 |
2002 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.
|
9131652 |
1997 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.
|
8907321 |
1996 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A SOD1 gene mutation in a patient with slowly progressing familial ALS.
|
10430435 |
1999 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.
|
12963370 |
2003 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Although up-regulation of caspase-12 has been reported in G93A SOD1 transgenic mice, it is controversial whether similar mechanisms operate in human FALS.
|
20816908 |
2010 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.
|
8351519 |
1993 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.
|
7881433 |
1994 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Based on the temporal correlation of these impairments with the onset of motor weakness and the appearance of NF inclusions and vacuoles in vulnerable motor neurons, the latter lesions may be the proximal cause of motor neuron dysfunction and degeneration in the G93A mice and in FALS patients with SOD1 mutations.
|
9382875 |
1997 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.
|
15056757 |
2004 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.
|
21914052 |
2012 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives.
|
16324086 |
2005 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).
|
9455977 |
1997 |
|
rs121912438
|
|
|
0.900 |
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 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group.
|
17653917 |
2007 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Here we demonstrated that, starting from the pre-onset stage of FALS, misfolded SOD1 species associates specifically with kinesin-associated protein 3 (KAP3) in the ventral white matter of SOD1(G93A)-transgenic mouse spinal cord.
|
19088126 |
2009 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.
|
7870076 |
1994 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others.
|
8069312 |
1994 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.
|
7887412 |
1995 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.
|
7496169 |
1995 |
|
rs121912438
|
|
|
0.900 |
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 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In a recent work, we have observed that calcineurin activity is depressed in two models for familial amyotrophic lateral sclerosis (FALS) associated with mutations of the antioxidant enzyme Cu,Zn superoxide dismutase (SOD1), namely in neuroblastoma cells expressing either SOD1 mutant G93A or mutant H46R and in brain areas from G93A transgenic mice.
|
11701756 |
2001 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In the present study, we analyzed the extent of oxidative injury to lumbar and cervical spinal cord proteins in transgenic FALS mice that overexpress the SOD1 mutation [TgN(SOD1-G93A)G1H] in comparison with nontransgenic mice.
|
9798929 |
1998 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In the presence of several of these molecules, A4V and other FALS-linked SOD1 mutants such as G93A and G85R behaved similarly to wild-type SOD1, suggesting that these compounds could be leads toward effective therapeutics against FALS.
|
15738401 |
2005 |