Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Cu/Zn superoxide dismutase (Sod1) have been reported in both familial and sporadic amyotrophic lateral sclerosis (ALS).
|
31796595 |
2019 |
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
Biomarker
|
disease |
BEFREE |
We already demonstrated that in peripheral blood mononuclear cells (PBMCs) of sporadic amyotrophic lateral sclerosis (sALS) patients, superoxide dismutase 1 (SOD1) was present in an aggregated form in the cytoplasmic compartment.
|
31121901 |
2019 |
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
Biomarker
|
disease |
BEFREE |
Wild-type Cu/Zn-superoxide dismutase is misfolded in cerebrospinal fluid of sporadic amyotrophic lateral sclerosis.
|
31744522 |
2019 |
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
In SOD1<sup>G93A</sup> mice, the serum levels of creatine kinase were elevated at 9 weeks of age (peri-onset) when Chrng started to be up-regulated, and were then down-regulated at 15 weeks of age, consistent with the clinical data from patients with sporadic amyotrophic lateral sclerosis.
|
31456060 |
2019 |
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 |
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 |
We report an apparently sporadic amyotrophic lateral sclerosis patient carrying a heterozygous novel frameshift SOD1 mutation (p.Ser108LeufsTer15), predicted to cause a premature protein truncation.
|
30236613 |
2018 |
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Sporadic amyotrophic lateral sclerosis (sALS) is the most common form of ALS, however, the molecular mechanisms underlying cellular damage and motor neuron degeneration remain elusive.
|
29881994 |
2018 |
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We previously found C9orf72-associated (c9ALS) and sporadic amyotrophic lateral sclerosis (sALS) brain transcriptomes comprise thousands of defects, among which, some are likely key contributors to ALS pathogenesis.
|
28808785 |
2017 |
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
Biomarker
|
disease |
CTD_human |
Conformational Disorder of the Most Immature Cu, Zn-Superoxide Dismutase Leading to Amyotrophic Lateral Sclerosis.
|
26694608 |
2016 |
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 |
Biomarker
|
disease |
MGD |
A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity.
|
25468678 |
2015 |
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 |
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 |
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 |
CTD_human |
Overexpression of metallothionein-I, a copper-regulating protein, attenuates intracellular copper dyshomeostasis and extends lifespan in a mouse model of amyotrophic lateral sclerosis caused by mutant superoxide dismutase-1.
|
24163136 |
2014 |
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
Biomarker
|
disease |
BEFREE |
Mutations in the sequestosome 1 gene (SQSTM1) have recently been identified in patients with amyotrophic lateral sclerosis, accounting for 1.11%-4.92% of familial ALS and 2.42%-4.37% of sporadic amyotrophic lateral sclerosis (SALS).
|
24138988 |
2014 |
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 |
Heat shock factor 1 over-expression protects against exposure of hydrophobic residues on mutant SOD1 and early mortality in a mouse model of amyotrophic lateral sclerosis.
|
24256636 |
2013 |
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 |
GeneticVariation
|
disease |
BEFREE |
Cu/Zn superoxide dismutase (SOD1) gene mutations have been reported in familial and sporadic amyotrophic lateral sclerosis (ALS).
|
21545237 |
2011 |
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
Biomarker
|
disease |
CTD_human |
Copper depletion increases the mitochondrial-associated SOD1 in neuronal cells.
|
21140194 |
2011 |
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant.
|
21621297 |
2011 |
Amyotrophic Lateral Sclerosis, Sporadic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
However, familial amyotrophic lateral sclerosis (FALS) without superoxide dismutase-1 gene (SOD1) mutation is less heterogeneous than SALS.
|
21483737 |
2011 |