|
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 |
|
rs1315541036
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Three FALS patients carried the previously described A4V (two cases) and L84F mutations (one case), while two FALS patients carried new missense mutations: a G12R substitution in exon 1, and a F45C substitution in exon 2, respectively.
|
11369193 |
2001 |
|
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 |
|
rs121912431
|
|
|
0.890 |
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 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 |
|
rs121912443
|
|
|
0.890 |
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 |
|
rs121912443
|
|
|
0.890 |
GeneticVariation |
BEFREE |
Most of the "metal binding region" FALS mutants (H46R, G85R, D124V, D125H, and S134N) exhibited transitions that probably resulted from unfolding of metal-free species at approximately 4-12 degrees C below the observed melting of the least stable WT species.
|
11854285 |
2002 |
|
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 |
|
rs121912436
|
|
|
0.870 |
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 |
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 |
|
rs121912443
|
|
|
0.890 |
GeneticVariation |
BEFREE |
This is the first autopsy report of FALS with a His46Arg mutation in the SOD1 enzyme.
|
11997070 |
2002 |
|
rs121912443
|
|
|
0.890 |
GeneticVariation |
BEFREE |
We report a new missense mutation (Ala140Gly) in exon 5 of the Cu/Zn superoxide dismutase (SOD-1) gene in a 73-year-old man with familial amyotrophic lateral sclerosis (FALS).
|
12039658 |
2002 |
|
rs121912431
|
|
|
0.890 |
GeneticVariation |
BEFREE |
Herein, we demonstrate that the entry of SOD1 into mitochondria depends on demetallation and that heat shock proteins (Hsp70, Hsp27, or Hsp25) block the uptake of the FALS-associated mutant SOD1 (G37R, G41D, or G93A), while having no effect on wild-type SOD1.
|
12060716 |
2002 |
|
rs121912431
|
|
|
0.890 |
GeneticVariation |
BEFREE |
There is no significant asymmetry between the monomers in these dimers, in contrast to the subunit structures of the FALS G37R mutant of human SOD1 and in bovine Cu,Zn SOD.
|
12729761 |
2003 |
|
rs121912435
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Furthermore, crystal structures of SOD wild-type and FALS mutant H43R</span> proteins uncover resulting local framework defects.
|
12963370 |
2003 |
|
rs121912443
|
|
|
0.890 |
GeneticVariation |
BEFREE |
In this study, we confirmed that FALS with SOD1 H46R mutation showed uniform initial symptoms and slow disease progression with intra-familial variation of disease severity and that inclusion body formation is not essential in FALS with this mutation.
|
14517684 |
2003 |
|
rs121912442
|
|
|
0.830 |
GeneticVariation |
BEFREE |
To clarify the biological significance of the interaction of the redox system (Prx2/GPx1) with SOD1 in SOD1-mutated motor neurons in vivo, we produced an affinity-purified rabbit antibody against Prx2 and investigated the immunohistochemical localization of Prx2 and GPx1 in neuronal Lewy body-like hyaline inclusions (LBHIs) in the spinal cords of familial amyotrophic lateral sclerosis (FALS) patients with a two-base pair deletion at codon 126 and an Ala-->Val substitution at codon 4 in the SOD1 gene, as well as in transgenic rats expressing human SOD1 with H46R and G93A mutations.
|
14648077 |
2004 |
|
rs121912431
|
|
|
0.890 |
GeneticVariation |
BEFREE |
Here we used wild-type (WT) SOD and five FALS-related mutants (G37R, H46R, G85R, D90A, and L144F) to show that the metals contribute significantly to the kinetic stability of the protein, with demetalated (apo) SOD showing acid-induced unfolding rates about 60-fold greater than the metalated (holo) protein.
|
15610047 |
2004 |
|
rs1482760341
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Here we used wild-type (WT) SOD and five FALS-related mutants (G37R, H46R, G85R, D90A, and L144F) to show that the metals contribute significantly to the kinetic stability of the protein, with demetalated (apo) SOD showing acid-induced unfolding rates about 60-fold greater than the metalated (holo) protein.
|
15610047 |
2004 |
|
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 |
|
rs121912436
|
|
|
0.870 |
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 |
|
rs121912443
|
|
|
0.890 |
GeneticVariation |
BEFREE |
The His46Arg (H46R) mutant of human copper-zinc superoxide dismutase (SOD1) is associated with an unusual, slowly progressing form of familial amyotrophic lateral sclerosis (FALS).
|
15840828 |
2005 |
|
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 |
|
rs121912443
|
|
|
0.890 |
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 |