rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mitochondrial pathology is a seminal pathogenic hallmark of familial amyotrophic lateral sclerosis (FALS) which is extensively manifested by human patients and mutant SOD1(G93A) mammalian models.
|
27163198 |
2016 |
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Using 1H-15N HSQC NMR spectroscopy, we have analyzed hydrogen exchange at the amide groups of wild-type (wt) CuZnSOD and the fALS-associated G93A SOD variant in their fully metalated states.
|
19655787 |
2009 |
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Lentivirus and adeno-associated virus have been used to knockdown levels of mutated superoxide dismutase 1 (SOD1) in the G93A SOD1 mouse model of familial amyotrophic lateral sclerosis (fALS) to result in beneficial therapeutic outcomes.
|
19495690 |
2009 |
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In the present study, we injected MSCs into the cerebrospinal fluid of symptomatic hSOD1(G93A) rats, a transgenic animal model of familial amyotrophic lateral sclerosis (ALS) expressing a mutated form of the human superoxide dismutase.
|
19267424 |
2009 |
rs1475170339
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Using 1H-15N HSQC NMR spectroscopy, we have analyzed hydrogen exchange at the amide groups of wild-type (wt) CuZnSOD and the fALS-associated G93A SOD variant in their fully metalated states.
|
19655787 |
2009 |
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We examined the effect of rHuEPO in transgenic mice expressing the human Cu/Zn dependent-superoxide dismutase with G93A mutation (SOD1G93A), a model of familial amyotrophic lateral sclerosis. rHuEPO (4 unit/g BW s.c. three times/week), increased the haematocrit and induced a slight delay in impairment of motor function as measured by the rotating bar test.
|
17364433 |
2007 |
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recent studies suggest that microglia over-expressing mutant human superoxide dismutase (mSOD1(G93A)) may contribute to motoneuron death in a transgenic mouse model of familial amyotrophic lateral sclerosis.
|
17555556 |
2007 |
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The paper by Butterfield and colleagues reporting the use of redox proteomics to identify oxidatively modified proteins in the spinal cord in the G93A-SOD1 mouse model of familial amyotrophic lateral sclerosis was identified by the SCOPUS science literature information system to be one of the top 20 downloaded papers for 2005-2006 in Free Radical Biology and Medicine.
|
17603925 |
2007 |
rs1475170339
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We examined the effect of rHuEPO in transgenic mice expressing the human Cu/Zn dependent-superoxide dismutase with G93A mutation (SOD1G93A), a model of familial amyotrophic lateral sclerosis. rHuEPO (4 unit/g BW s.c. three times/week), increased the haematocrit and induced a slight delay in impairment of motor function as measured by the rotating bar test.
|
17364433 |
2007 |
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Human neuroblastoma SH-SY5Y cells transfected with either familial amyotrophic lateral sclerosis-typical G93A mutant or wild-type copper/zinc superoxide dismutase were compared to untransfected cells in term of glutamate transport.
|
15670639 |
2005 |
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Point mutations such as G93A and A4V in the human Cu/Zn-superoxide dismutase gene (hSOD1) cause familial amyotrophic lateral sclerosis (fALS).
|
16045483 |
2005 |
rs121912443
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Structural consequences of the familial amyotrophic lateral sclerosis SOD1 mutant His46Arg.
|
15840828 |
2005 |
rs1475170339
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Human neuroblastoma SH-SY5Y cells transfected with either familial amyotrophic lateral sclerosis-typical G93A mutant or wild-type copper/zinc superoxide dismutase were compared to untransfected cells in term of glutamate transport.
|
15670639 |
2005 |
rs1475170339
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Point mutations such as G93A and A4V in the human Cu/Zn-superoxide dismutase gene (hSOD1) cause familial amyotrophic lateral sclerosis (fALS).
|
16045483 |
2005 |
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In this study, we demonstrate the actual role of a functional cross-talk between glial and neuronal cells expressing fALS mutant G93A-SOD1, where an increase in the production of reactive oxygen species occurs.
|
15208263 |
2004 |
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Biophysical and biochemical analysis showed that zinc incorporation is severely reduced in the CuZnSOD proteins associated with the most severely forms of fALS (A4V, G93A).
|
15171736 |
2004 |
rs121912438
|
|
|
0.100 |
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 |
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We examined its neuroprotective effect alone and in combination with the putative glutamate release blocker riluzole in the G93A model of familial amyotrophic lateral sclerosis (fALS).
|
15372249 |
2004 |
rs121912443
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Familial amyotrophic lateral sclerosis with His46Arg mutation in Cu/Zn superoxide dismutase presenting characteristic clinical features and Lewy body-like hyaline inclusions.
|
15465081 |
2004 |
rs121912443
|
|
|
0.100 |
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 |
rs1475170339
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Biophysical and biochemical analysis showed that zinc incorporation is severely reduced in the CuZnSOD proteins associated with the most severely forms of fALS (A4V, G93A).
|
15171736 |
2004 |
rs1475170339
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We examined its neuroprotective effect alone and in combination with the putative glutamate release blocker riluzole in the G93A model of familial amyotrophic lateral sclerosis (fALS).
|
15372249 |
2004 |
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Dynamic properties of the G93A mutant of copper-zinc superoxide dismutase as detected by NMR spectroscopy: implications for the pathology of familial amyotrophic lateral sclerosis.
|
12590575 |
2003 |
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Behavioural and anatomical effects of systemically administered leukemia inhibitory factor in the SOD1(G93A G1H) mouse model of familial amyotrophic lateral sclerosis.
|
12915243 |
2003 |
rs121912443
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Clinical and pathological studies of familial amyotrophic lateral sclerosis (FALS) with SOD1 H46R mutation in large Japanese families.
|
14517684 |
2003 |