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rs121912431
|
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|
0.100 |
GeneticVariation |
BEFREE |
The X-ray crystal structure of a human copper/zinc superoxide dismutase mutant (G37R CuZnSOD) found in some patients with the inherited form of Lou Gehrig's disease (FALS) has been determined to 1.9 angstroms resolution.
|
9541385 |
1998 |
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rs121912431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Together, these findings suggest that the mechanism linking mutant G37R SOD1 and ALS involves mitochondrial respiratory chain deficiency resulting in ATP loss and impairment of mitochondrial and cytosolic Ca(2+) homeostasis.
|
21388680 |
2011 |
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rs121912431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To investigate the role of neurofilaments in motor neuron disease caused by superoxide dismutase (SOD1) mutations, transgenic mice expressing a amyotrophic lateral sclerosis-linked SOD1 mutant (SOD1(G37R)) were mated with transgenic mice expressing human neurofilament heavy (NF-H) subunits.
|
9689131 |
1998 |
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rs121912431
|
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|
0.100 |
GeneticVariation |
BEFREE |
Blocking gap junction hemichannel significantly suppressed neuronal loss of the spinal cord and extended survival in transgenic mice carrying human superoxide dismutase 1 with G93A or G37R mutation as an amyotrophic lateral sclerosis mouse model.
|
21712989 |
2011 |
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rs121912431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Metalation of the amyotrophic lateral sclerosis mutant glycine 37 to arginine superoxide dismutase (SOD1) apoprotein restores its structural and dynamical properties in solution to those of metalated wild-type SOD1.
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17683122 |
2007 |
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rs121912431
|
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0.100 |
GeneticVariation |
BEFREE |
To test these possibilities, levels of nitrotyrosine and markers for hydroxyl radical formation were measured in two lines of transgenic mice that develop progressive motor neuron disease from expressing human familial ALS-linked SOD1 mutation G37R.
|
9207139 |
1997 |
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rs121912431
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0.100 |
GeneticVariation |
BEFREE |
To investigate whether high neurofilament (NF) content and large axonal caliber are factors that predispose motor neurons to selective degeneration in ALS, we generated mice expressing a mutant form of superoxide dismutase 1 (SOD1(G37R)) linked to familial ALS in a context of one allele for each NF gene being disrupted.
|
11050249 |
2000 |
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rs121912431
|
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0.100 |
GeneticVariation |
BEFREE |
After our recent report that a deregulation of Cdk5 activity by p25 may contribute to pathogenesis of amyotrophic lateral sclerosis (ALS), we further examined the possible involvement of other Cdks in mice expressing a mutant form of superoxide dismutase (SOD1(G37R)) linked to ALS.
|
12657672 |
2003 |
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rs121912431
|
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0.100 |
GeneticVariation |
BEFREE |
The differential effects of astrocyte G85R versus G37R knockdown on MN death demonstrate SOD1 mutation-specific effects on ALS pathogenesis; these differences may be a result of the different dismutase activities of the two mutants.
|
20962037 |
2011 |
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rs121912431
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0.100 |
GeneticVariation |
BEFREE |
Sensorimotor and cognitive functions in a SOD1(G37R) transgenic mouse model of amyotrophic lateral sclerosis.
|
21816178 |
2011 |
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rs121912431
|
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|
0.100 |
GeneticVariation |
BEFREE |
To address concerns about levels of mutant SOD1 in disease pathogenesis, we have genetically engineered four human ALS-causing SOD1 point mutations (G37R, H48R, H71Y, and G85R) into the endogenous locus of Drosophila SOD1 (dsod) via ends-out homologous recombination and analyzed the resulting molecular, biochemical, and behavioral phenotypes.
|
27974499 |
2017 |
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rs121912431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
SOD1(G37R) mice expressing a conditional allele of an ALS-linked SOD1 mutation were crossed with Tph2-Cre mice expressing Cre in serotonergic neurons.
|
28856708 |
2017 |
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rs121912431
|
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|
0.100 |
GeneticVariation |
BEFREE |
High levels of familial Amyotrophic Lateral Sclerosis (ALS)-linked SOD1 mutants G93A and G37R were previously shown to mediate disease in mice through an acquired toxic property.
|
9052802 |
1997 |
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rs121912431
|
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0.100 |
GeneticVariation |
BEFREE |
Therapeutic effects of CuII(atsm) in the SOD1-G37R mouse model of amyotrophic lateral sclerosis.
|
23952668 |
2013 |
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rs121912431
|
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0.100 |
GeneticVariation |
BEFREE |
To further investigate the role of chromogranins in ALS pathogenesis, we generated SOD1(G37R) mice that over-express CgA under the control of Thy1 promoter.
|
20807312 |
2010 |
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rs121912431
|
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0.100 |
GeneticVariation |
BEFREE |
Reduction of VDAC1 activity with targeted gene disruption is shown to diminish survival by accelerating onset of fatal paralysis in mice expressing the ALS-causing mutation SOD1(G37R).
|
20797535 |
2010 |
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rs121912431
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0.100 |
GeneticVariation |
BEFREE |
Previously, we reported that overexpression of the mitochondrial antioxidant manganese superoxide dismutase (MnSOD or SOD2) attenuates cytotoxicity induced by expression of the G37R-SOD1 mutant in a human neuroblastoma cell culture model of ALS.
|
17394531 |
2007 |
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rs121912433
|
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|
0.020 |
GeneticVariation |
BEFREE |
The more rapid course of ALS with the Gly41Ser SOD1 mutation is confirmed in a distinct ethnic group.
|
21755517 |
2011 |
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rs121912433
|
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|
0.020 |
GeneticVariation |
BEFREE |
G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype.
|
19488901 |
2010 |
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rs121912434
|
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|
0.010 |
GeneticVariation |
BEFREE |
A Gly41Ser mutation in the superoxide dismutase 1 gene (SOD1) has been reported to cause a very rapid course of amyotrophic lateral sclerosis (ALS) in a limited number of Italian patients, but a Gly41Asp mutation results in a more benign course.
|
21755517 |
2011 |
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rs121912435
|
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|
0.020 |
GeneticVariation |
BEFREE |
Taken together, it is suggested that the binding of Cu(2+) induces the local refolding of denatured apo-H43R to create toxic catalytic centers that convert the enzyme from antioxidant to pro-oxidant, leading to the pathogenesis of ALS.
|
23837654 |
2013 |
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rs121912435
|
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|
0.020 |
GeneticVariation |
BEFREE |
The acquisition of the pro-oxidant activity is accelerated for H43R, which is an ALS-related mutant, in molecular crowding environment.
|
31348988 |
2020 |
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rs121912436
|
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0.100 |
GeneticVariation |
BEFREE |
Our results showed that urate treatment provided neuroprotective effects as confirmed by enhanced survival, attenuated motor impairments, reduced oxidative damage and increased antioxidant defense in hSOD1-G85R-expressing Drosophila models of ALS.
|
30690059 |
2019 |
|
rs121912436
|
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0.100 |
GeneticVariation |
BEFREE |
We have previously shown that several familial ALS-linked copper-zinc superoxide dismutase (SOD1) mutants (A4V, G85R, and G93A) interacted and colocalized with the retrograde dynein-dynactin motor complex in cultured cells and affected tissues of ALS mice.
|
20510358 |
2010 |
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rs121912436
|
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0.100 |
GeneticVariation |
BEFREE |
Glucosylceramide synthase (GCS), the enzyme responsible for GlcCer biosynthesis, was up-regulated in muscle of SOD1(G86R) mice and ALS patients, and in muscle of wild-type mice after surgically induced denervation.
|
26483191 |
2015 |