rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.
|
25025039 |
2014 |
rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
"Hereditary motor neuron disease in a large Norwegian family with a ""H46R"" substitution in the superoxide dismutase 1 gene."
|
22475618 |
2012 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
UNIPROT |
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.
|
21914052 |
2012 |
rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
Unfolding and folding kinetics of amyotrophic lateral sclerosis-associated mutant Cu,Zn superoxide dismutases.
|
18951903 |
2009 |
rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
A common property of amyotrophic lateral sclerosis-associated variants: destabilization of the copper/zinc superoxide dismutase electrostatic loop.
|
19635794 |
2009 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
UNIPROT |
Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.
|
19741096 |
2009 |
rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.
|
19483195 |
2009 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
UNIPROT |
Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.
|
18378676 |
2008 |
rs121912443
|
|
|
0.890 |
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 |
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 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
UNIPROT |
EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives.
|
16324086 |
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 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
UNIPROT |
Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.
|
15056757 |
2004 |
rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.
|
14506936 |
2003 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
UNIPROT |
ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.
|
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 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
UNIPROT |
"""True"" sporadic ALS associated with a novel SOD-1 mutation."
|
12402272 |
2002 |
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 |
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 |
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
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
Copper(2+) binding to the surface residue cysteine 111 of His46Arg human copper-zinc superoxide dismutase, a familial amyotrophic lateral sclerosis mutant.
|
10889018 |
2000 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
UNIPROT |
Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds.
|
10400992 |
1999 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
UNIPROT |
A SOD1 gene mutation in a patient with slowly progressing familial ALS.
|
10430435 |
1999 |
rs121912443
|
|
|
0.890 |
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 |