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rs121912443
|
|
Amyotrophic Lateral Sclerosis, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
Structural consequences of the familial amyotrophic lateral sclerosis SOD1 mutant His46Arg.
|
15840828 |
2005 |
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rs121912443
|
|
Amyotrophic Lateral Sclerosis, Familial
|
|
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 |
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rs121912443
|
|
Amyotrophic Lateral Sclerosis, Familial
|
|
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 |
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rs121912443
|
|
Amyotrophic Lateral Sclerosis, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
Clinical and pathological studies of familial amyotrophic lateral sclerosis (FALS) with SOD1 H46R mutation in large Japanese families.
|
14517684 |
2003 |
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rs121912443
|
|
Amyotrophic Lateral Sclerosis, Familial
|
|
0.100 |
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 |
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rs121912443
|
|
Amyotrophic Lateral Sclerosis, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
Clinical features and neuropathological findings of familial amyotrophic lateral sclerosis with a His46Arg mutation in Cu/Zn superoxide dismutase.
|
11997070 |
2002 |
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rs121912443
|
|
Amyotrophic Lateral Sclerosis, Familial
|
|
0.100 |
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 |
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rs121912443
|
|
Amyotrophic Lateral Sclerosis, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
These results are relevant to explain a milder progression of the familial amyotrophic lateral sclerosis disease when associated with the H46R mutation.
|
11413228 |
2001 |
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rs121912443
|
|
Amyotrophic Lateral Sclerosis, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
We have investigated the response to oxidative stress in a model system obtained by stable transfection of the human neuroblastoma cell line SH-SY5Y with plasmids directing constitutive expression of either wild-type human Cu,Zn superoxide dismutase or a mutant of this enzyme (H46R) associated with familial amyotrophic lateral sclerosis.
|
10461909 |
1999 |
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rs121912443
|
|
Amyotrophic Lateral Sclerosis, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
We analyzed mutant superoxide dismutase-1 (SOD-1) in erythrocytes from patients with familial amyotrophic lateral sclerosis (FALS) by using ion exchange chromatography and HPLC/electrospray ionization mass spectrometry and were able to divide mutant SOD-1 proteins into a stable form including G37R and H46R, and an unstable form including I149T and a two base pair deletion mutant.
|
9425258 |
1997 |
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rs121912443
|
|
Amyotrophic Lateral Sclerosis, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
We report clinical characteristics of familial amyotrophic lateral sclerosis (FALS) with 4 different missense point mutations in exons 2, 4, and 5 of the Cu/Zn superoxide dismutase (SOD) gene, that result in amino acid substitutions of histidine46 by arginine (H46R), leucine84 by valine (L84V), isoleucine104 by phenylalanine (I104F), and valine148 by isoleucine (V148I), in 5 Japanese families.
|
8815157 |
1996 |
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rs121912443
|
|
Amyotrophic Lateral Sclerosis, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
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 |