|
rs1315541036
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Three FALS patients carried the previously described A4V (two cases) and L84F mutations (one case), while two FALS patients carried new missense mutations: a G12R substitution in exon 1, and a F45C substitution in exon 2, respectively.
|
11369193 |
2001 |
|
rs1424014997
|
|
|
0.710 |
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 |
|
rs1476760624
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Expression of two FALS-related mutant SODs (A4V and V148G) caused death of differentiated PC12 cells, superior cervical ganglion neurons, and hippocampal pyramidal neurons.
|
9348345 |
1997 |
|
rs121912445
|
|
|
0.720 |
GeneticVariation |
BEFREE |
This is considered to be the first description of an autopsy case of FALS with an I104F SOD1 gene mutation, suggesting that combination of marked intra-familial clinical variability and multisystem degeneration with occurrence of CIs and SOD1-positive NCIs is a characteristic feature of FALS with this SOD1 gene mutation.
|
27444855 |
2017 |
|
rs121912445
|
|
|
0.720 |
GeneticVariation |
BEFREE |
These results suggest that FALS from this novel I104F mutation shows considerable clinical variation.
|
7501156 |
1995 |
|
rs121912455
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Involvement of Onuf's nucleus may be a characteristic pathological feature in FALS with Gly72Ser mutation in the SOD1 gene.
|
21084099 |
2011 |
|
rs121912435
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Furthermore, crystal structures of SOD wild-type and FALS mutant H43R</span> proteins uncover resulting local framework defects.
|
12963370 |
2003 |
|
rs121912432
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Wild type CuZnSOD and several of the mutants associated with familial amyotrophic lateral sclerosis (FALS) (Ala(4) --> Val, Gly(93) --> Ala, and Leu(38) --> Val) were expressed in Saccharomyces cerevisiae.
|
10625639 |
2000 |
|
rs121912448
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The illness showed rapid progression similarly to the FALS with a mutation of Cys6Phe that was reported by Morita et al.
|
10624810 |
1999 |
|
rs121912439
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Three familial amyotrophic lateral sclerosis (FALS)-associated mutant Cu,ZnSODs, i.e., E100G, G93A, and G93R, did not differ from the control enzyme in susceptibility to inactivation by H2O2.
|
9587411 |
1998 |
|
rs121912452
|
|
|
0.810 |
GeneticVariation |
BEFREE |
In FALS with the L84V mutation, while the clinical course of the disease was similar, the age at onset was younger in men than women.
|
8815157 |
1996 |
|
rs74315452
|
|
|
0.810 |
GeneticVariation |
BEFREE |
We report the coexistence of an Ile113-->Thr substitution in exon 4 of the SOD1 gene and marked neurofilamentous pathology in the same FALS patient.
|
8572658 |
1996 |
|
rs121912437
|
|
|
0.820 |
GeneticVariation |
BEFREE |
We embryonically exposed zebrafish, Danio rerio, (transgenically overexpressing a FALS-causing SOD1-G93R mutation) to BMAA to investigate early motor neuron outgrowth in larvae and endurance and fatigability in 5-month adults.
|
28123103 |
2017 |
|
rs1482760341
|
|
|
0.820 |
GeneticVariation |
BEFREE |
The authors describe a FALS pedigree with the L144F SOD1 mutation in which all cases had respiratory involvement as a first symptom.
|
20562451 |
2011 |
|
rs1482760341
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Here we used wild-type (WT) SOD and five FALS-related mutants (G37R, H46R, G85R, D90A, and L144F) to show that the metals contribute significantly to the kinetic stability of the protein, with demetalated (apo) SOD showing acid-induced unfolding rates about 60-fold greater than the metalated (holo) protein.
|
15610047 |
2004 |
|
rs121912437
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Three familial amyotrophic lateral sclerosis (FALS)-associated mutant Cu,ZnSODs, i.e., E100G, G93A, and G93R, did not differ from the control enzyme in susceptibility to inactivation by H2O2.
|
9587411 |
1998 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
BEFREE |
These results suggest that the Ala4Thr mutation in SOD1 decreases the stability of SOD1 and that this instability may play an important role in the pathogenesis of the degeneration of motor neurons in FALS.
|
8830861 |
1996 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
BEFREE |
We have discovered a novel missense mutation (substitution of Thr for Ala4) in exon 1 (GCC to ACC) in two FALS patients from one Japanese FALS family.
|
8179602 |
1994 |
|
rs121912442
|
|
|
0.830 |
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 |
|
rs121912442
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Wild type CuZnSOD and several of the mutants associated with familial amyotrophic lateral sclerosis (FALS) (Ala(4) --> Val, Gly(93) --> Ala, and Leu(38) --> Val) were expressed in Saccharomyces cerevisiae.
|
10625639 |
2000 |
|
rs121912442
|
|
|
0.830 |
GeneticVariation |
BEFREE |
The mean duration of disease was 1.0 +/- 0.4 years, which is significantly less than the mean duration of disease for FALS patients with mutations in SOD1 other than ala4val (p < 0.001).
|
9008494 |
1997 |
|
rs121912436
|
|
|
0.870 |
GeneticVariation |
BEFREE |
The palmitoylation of FALS-linked mtSOD1s (G93A and G85R) was also increased relative to that of wtSOD1 when assayed from transgenic mouse spinal cords.
|
23760509 |
2013 |
|
rs121912436
|
|
|
0.870 |
GeneticVariation |
BEFREE |
MTSOD1s with full dismutase enzymatic activity (e.g., G37R) and without any enzymatic activity (e.g., G85R) cause FALS, demonstrating that the ability of MTSOD1 to cause FALS is not dependent on the dismutase activity; however, it remains unclear whether MTSOD1 dismutase activity can influence disease phenotype.
|
19442735 |
2009 |
|
rs121912436
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Although one study found that overexpression of human wild-type (WT) SOD1 did not affect disease in G85R transgenic mice, more recent reports claim that overexpression of WTSOD1 in other MTSOD1 transgenic mice hastened disease, raising a possibility that the effect of WTSOD1 overexpression in this FALS mouse model is mutant-specific.
|
19233858 |
2009 |
|
rs121912436
|
|
|
0.870 |
GeneticVariation |
BEFREE |
In the presence of several of these molecules, A4V and other FALS-linked SOD1 mutants such as G93A and G85R behaved similarly to wild-type SOD1, suggesting that these compounds could be leads toward effective therapeutics against FALS.
|
15738401 |
2005 |