|
rs121912438
|
|
Familial (FPAH)
|
|
0.050 |
GeneticVariation
|
BEFREE |
In humans, mutation of glycine 93 to alanine of Cu<sup>++</sup>/Zn<sup>++</sup> superoxide dismutase type-1 (SOD1-G93 A) has been associated to some familial cases of Amyotrophic Lateral Sclerosis (ALS).
|
30503815 |
2019 |
|
rs121912438
|
|
Familial (FPAH)
|
|
0.050 |
GeneticVariation
|
BEFREE |
It was also revealed that by reducing the disulfide bond and causing a decrease in the structural stability, the amyloid fibril formation of a familial mutant SOD1 G93A was accelerated even under physiological conditions.
|
26319711 |
2016 |
|
rs121912438
|
|
Familial (FPAH)
|
|
0.050 |
GeneticVariation
|
BEFREE |
In conclusion, there are commonalities of findings in sporadic ALS patients and presymptomatic SOD1-G93A transgenic mice and these implicate inadequate proteasome function in the pathogenesis of both familial and sporadic ALS.
|
22632443 |
2012 |
|
rs121912438
|
|
Familial (FPAH)
|
|
0.050 |
GeneticVariation
|
BEFREE |
The superoxide dismutase 1(G93A G1H) (SOD1(G93A G1H)) transgenic mouse is a model of familial human amyotrophic lateral sclerosis (ALS) that has progressive neurodegeneration within the spinal cord and brainstem.
|
17439705 |
2007 |
|
rs121912438
|
|
Familial (FPAH)
|
|
0.050 |
GeneticVariation
|
BEFREE |
No increase in Hsp70 occurred in motor neurons after exposure to excitotoxic glutamate or expression of mutant SOD-1 with a glycine--> alanine substitution at residue 93 (G93A), nor was Hsp70 increased in spinal cords of G93A SOD-1 transgenic mice or sporadic or familial ALS patients.
|
12843283 |
2003 |
|
rs121912431
|
|
Familial (FPAH)
|
|
0.020 |
GeneticVariation
|
BEFREE |
To determine whether neuron-specific expression of mutant SOD1 is sufficient to produce such a phenotype, we generated transgenic animals carrying the G37R mutation that is associated with the familial form of ALS (FALS), which is driven by the neurofilament light chain promoter.
|
11331366 |
2001 |
|
rs121912431
|
|
Familial (FPAH)
|
|
0.020 |
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 |
|
rs121912442
|
|
Familial (FPAH)
|
|
0.010 |
GeneticVariation
|
BEFREE |
The alanine to valine mutation at codon 4 (A4V) of SOD1 causes a rapidly progressive dominant form of amyotrophic lateral sclerosis (ALS) with exclusively lower motor neuron disease and is responsible for 50% of SOD1 mutations associated with familial ALS in North America.This mutation is rare in Europe.
|
19176896 |
2009 |
|
rs121912452
|
|
Familial (FPAH)
|
|
0.010 |
GeneticVariation
|
BEFREE |
A new point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD) gene, resulting in an amino acid substitution of leucine84 by valine (L84V), in a Japanese patient with familial ALS (FALS) was identified.
|
7755363 |
1995 |
|
rs121912456
|
|
Familial (FPAH)
|
|
0.010 |
GeneticVariation
|
BEFREE |
We report a new missense mutation (Gly12Arg) [corrected] in exon 1 of the Cu/Zn superoxide dismutase (SOD1) gene in a 67-year-old patient with familial ALS (FALS).
|
10430435 |
1999 |
|
rs74315452
|
|
Familial (FPAH)
|
|
0.010 |
GeneticVariation
|
BEFREE |
In 3 cases a point mutation was found in exon 4: E100G in one familial case, and I113T in two cases (one familial, one sporadic).
|
9462467 |
1997 |
|
rs80265967
|
|
Familial (FPAH)
|
|
0.010 |
GeneticVariation
|
BEFREE |
D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis.
|
8909456 |
1996 |