|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
Biomarker
|
disease |
BEFREE |
To clarify the trophic mechanism of residual anterior horn cells affected by sporadic amyotrophic lateral sclerosis (SALS) and familial ALS (FALS) with superoxide dismutase 1 (SOD1) mutations, we investigated the immunohistochemical expression of hepatocyte growth factor (HGF), a novel neurotrophic factor, and its receptor, c-Met.
|
12707786 |
2003 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
Biomarker
|
disease |
BEFREE |
Aggregated wild type SOD-1 in sALS neurons could induce in mononuclear cells the cytokines inducing chronic inflammation in sALS spinal cord, in particular IL-6 and IL-17A, damaging neurons.
|
21062492 |
2010 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
Biomarker
|
disease |
CTD_human |
Antisense peptide nucleic acid targeting GluR3 delays disease onset and progression in the SOD1 G93A mouse model of familial ALS.
|
15264227 |
2004 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report a novel missense mutation (Asp109Tyr) in exon 4 of the Cu/Zn superoxide dismutase (sod1) gene in a woman with apparently sporadic amyotrophic lateral sclerosis (SALS).
|
17257622 |
2007 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
Biomarker
|
disease |
CTD_human |
Differential expression of inflammation- and apoptosis-related genes in spinal cords of a mutant SOD1 transgenic mouse model of familial amyotrophic lateral sclerosis.
|
11796754 |
2002 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Eight of 38 patients (21%) with familial and 5 of 175 patients (3%) with sporadic amyotrophic lateral sclerosis (ALS) had missense mutations in the SOD-1 gene.Two novel mutations were identified.
|
9506558 |
1998 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We describe a patient with apparently sporadic amyotrophic lateral sclerosis (SALS) with a novel g > c point mutation at position 382 in the SOD1 gene, leading to a substitution of glycine for arginine in amino acid position 127 (G127R).
|
20192886 |
2010 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
Biomarker
|
disease |
BEFREE |
There is emerging evidence that the misfolding of superoxide dismutase 1 (SOD1) may represent a common pathogenic event in both familial and sporadic amyotrophic lateral sclerosis (ALS).
|
24394188 |
2014 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
Biomarker
|
disease |
BEFREE |
Cu/Zn-superoxide dismutase is misfolded in familial and sporadic amyotrophic lateral sclerosis, but it is not clear how this triggers endoplasmic reticulum (ER) stress or other pathogenic processes.
|
24134191 |
2014 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Lewy body-like hyaline inclusions (LBHIs) are also found in a small proportion of sALS cases as well as in individuals with familial ALS with mutations in the Cu/Zu superoxide dismutase (SOD1) gene.
|
29938835 |
2018 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
Biomarker
|
disease |
CTD_human |
Structural and biophysical properties of the pathogenic SOD1 variant H46R/H48Q.
|
19227972 |
2009 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to identify gene expression profiles in peripheral blood mononuclear cells (PBMCs) from sporadic amyotrophic lateral sclerosis (sALS) patients to gain insights into the pathogenesis of ALS.
|
20884065 |
2011 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
SOD1 mRNA expression in sporadic amyotrophic lateral sclerosis.
|
20399857 |
2010 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
Biomarker
|
disease |
CTD_human |
Unveiling the unfolding pathway of FALS associated G37R SOD1 mutant: a computational study.
|
20485746 |
2010 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Early anatomical changes in mouse models of fALS are seen in the neuromuscular junctions (NMJs) and lower motor neurons, and selective reduction of toxic mutant SOD1 in the spinal cord and muscle of these models has beneficial effects.
|
25411487 |
2014 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
No SOD1 mutations were found in the SALS brains using this technique.
|
20184515 |
2010 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The results revealed that 8 novel loci of 1p34.3, 3p21.1, 3p22.2, 10p15.2, 22q12.1, 3q13.11, 11q25, 12q24.33, and 5 previously reported loci of CNTN4 (kgp11325216), ATXN1 (kgp8327591), C9orf72 (kgp6016770), ITPR2 (kgp3041552), and SOD1 (kgp10760302) were associated with sALS from CHP.
|
24529757 |
2014 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
Biomarker
|
disease |
BEFREE |
Axonal excitability variables were measured in patients with c9orf72 ALS and results compared with matched patients with SALS and healthy control participants.
|
25384182 |
2015 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
We investigated the expression of the human SOD1 gene at a cellular level in the motoneurons of patients with sporadic amyotrophic lateral sclerosis, patients with familial amyotrophic lateral sclerosis, and normal control subjects, using a quantitative in situ hybridization technique.
|
9124814 |
1997 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
Biomarker
|
disease |
BEFREE |
Endoplasmic reticulum stress leads to accumulation of wild-type SOD1 aggregates associated with sporadic amyotrophic lateral sclerosis.
|
30038021 |
2018 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Cu/Zn superoxide dismutase (SOD1) gene are detected in 20% of familial and 3% of sporadic amyotrophic lateral sclerosis (ALS) cases.
|
20638444 |
2010 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.
|
7870076 |
1994 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
Biomarker
|
disease |
CTD_human |
Ligand binding and aggregation of pathogenic SOD1.
|
23612299 |
2013 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
Biomarker
|
disease |
CTD_human |
Modification of cysteine 111 in Cu/Zn superoxide dismutase results in altered spectroscopic and biophysical properties.
|
15096637 |
2004 |
|
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Two abnormal SOD1 mRNAs, exon 2-skipping and exon 2 and 3-skipping species, were identified from occipital brain tissue of sporadic amyotrophic lateral sclerosis (ALS) patients carrying no mutations in the SOD1 gene.
|
10976937 |
2000 |