|
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 |
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 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 |
Transgenic mice carrying familial amyotrophic lateral sclerosis (FALS)-linked mutant Cu/Zn superoxide dismutase (SOD1) genes such as G93A (G93A-mice) and G85R (G85R-mice) genes develop limb paresis.
|
11860498 |
2001 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The palmitoylation of FALS-linked mtSOD1s (A4V and G93A) was significantly increased relative to that of wtSOD1 expressed in HEK cells and a motor neuron cell line.
|
23760509 |
2013 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We cloned the cDNA for the FALS G93A mutant, overexpressed the protein in E. coli cells, purified the protein, and studied its enzymic activities.
|
10102580 |
1999 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We have set up a model system for familial amyotrophic lateral sclerosis (FALS) by transfecting human neuroblastoma cell line SH-SY5Y with plasmids directing constitutive expression of either wild-type human Cu,Zn superoxide dismutase (Cu,ZnSOD) or a mutant of this enzyme (G93A) associated with FALS.
|
9315720 |
1997 |
|
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 |
BEFREE |
To understand better the role of these mutations in the pathophysiology of FALS we have compared the pattern of proteins expressed in human neuroblastoma SH-SY5Y cell line with those of cell lines transfected with plasmids expressing the wild-type human SOD1 and the H46R and G93A mutants.
|
17979159 |
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 |
BEFREE |
We found significant increases in concentrations of 3-nitrotyrosine, a marker of peroxynitrite-mediated nitration, in upper and lower spinal cord and in cerebral cortex of transgenic mice with the FALS-associated G93A mutation.
|
9307254 |
1997 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Use of this new FALS-24B-SOD1(G93A) fly model holds promise for better understanding of the mitochondrial affectation process in FALS and for the discovery of novel therapeutic compounds able to reverse mitochondrial dysfunction in this fatal disease.
|
27163198 |
2016 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To investigate the mechanism of toxicity induced by the mutant SOD1 associated with FALS, we generated transgenic Caenorhabditis elegans strains that contain wild-type and mutant human A4V, G37R and G93A SOD1 recombinant plasmids.
|
11590119 |
2001 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In the present study, we first examined metallothioneins (MTs), known to bind copper ions and decrease oxidative toxicity, and found a twofold increase in MTs in the spinal cord of the SOD1 transgenic mice with a FALS-linked mutation (G93A), but not in the spinal cord of wild-type SOD1 transgenic mice.
|
11298796 |
2001 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Long-term (10-11 weeks) transplantation of hNT Neurons into the L(4)-L(5) segments of the ventral horn spinal cord of FALS(G93A) mice at 7 weeks of age (before onset of overt behavioral symptoms of disease) delayed the onset of motor dysfunction for at least 3 weeks.
|
11922659 |
2002 |
|
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 |
|
rs121912438
|
|
C |
0.900 |
CausalMutation |
CLINVAR |
|
|
|
|
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 |
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 |
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 |
Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.
|
15056757 |
2004 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
|
8528216 |
1995 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.
|
8351519 |
1993 |
|
rs121912438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.
|
9131652 |
1997 |