|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
β-N-methylamino-L-alanine (L-BMAA) has been shown to induce ER stress in a variety of models and has been linked to several types of neurodegenerative disease including Guamanian amyotrophic lateral sclerosis/Parkinsonism dementia complex (ALS/PDC).
|
28975502 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
β-N-Methylamino-L-alanine (BMAA), a probable cause of the amyotrophic lateral sclerosis/parkinsonism-dementia complex (ALS/PDC), or Alzheimer's disease, has been identified in more than 20 cyanobacterial genera.
|
28075568 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
β-Methylamino-L-alanine (BMAA) has been identified as the potential cause of the amyotrophic lateral sclerosis/parkinsonism-dementia complex (ALS/PDC) observed in the Chamorro people of Guam.
|
30102919 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
α-Synuclein plays a central role in the pathogenesis of PD whereas Cu, Zn superoxide dismutase (SOD1) is a key player in a subset of familial ALS cases.
|
26643113 |
2015 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
LHGDN |
[Superoxyde dismutase 1 gene abnormalities in familial amyotrophic lateral sclerosis: phenotype/genotype correlations. The French experience and review of the literature].
|
14978393 |
2004 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
[Parkinson disease and amyotrophic lateral sclerosis. Tauopathies, TDP-43 and SOD mutations].
|
18808763 |
2009 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
LHGDN |
[Causative genes for familial amyotrophic lateral sclerosis].
|
12138710 |
2002 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Wild-type human SOD1 is moderately stable, and was found here to be within the stability range of ALS-causing SOD1 variants, lending support to the hypothesis that wild-type SOD1 could be more generally involved in ALS pathogenesis.
|
22595972 |
2012 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Wild-type Cu/Zn superoxide dismutase (SOD1) does not facilitate, but impedes the formation of protein aggregates of amyotrophic lateral sclerosis causing mutant SOD1.
|
19660548 |
2009 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Widespread aggregation of mutant VAPB associated with ALS does not cause motor neuron degeneration or modulate mutant SOD1 aggregation and toxicity in mice.
|
23281774 |
2013 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
While there are legitimate concerns about the physiological differences between the rodent and human motor systems, mice expressing the 'G93A' superoxide dismutase-1 gene mutation are a predictable and robustly-characterized model for amyotrophic lateral sclerosis (ALS).
|
22117132 |
2012 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
While there are families with rare highly penetrant mutations in Cu/Zn superoxide dismutase 1 and several other genes that cause apparent Mendelian inheritance of the disease, most ALS occurs in families without another affected individual.
|
22132186 |
2011 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
While the majority of ALS cases (90-95%) are sporadic (sALS), among familial ALS cases 5-10% involve the inheritance of mutations in the <i>TARDBP</i> gene and the remaining (90-95%) are due to mutations in other genes such as: <i>C9ORF72, SOD1, FUS</i>, and <i>NEK1</i> etc.
|
30837838 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
While SOD1 is already recognised as an ALS-associated gene in Chinese, we provide novel evidence for association of NEK1 with ALS in Chinese, reporting variants in these genes not previously found in Europeans.
|
29149916 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
While 92.3% indicated they offered genetic testing to patients with familial ALS, 57.0% offered testing to patients with ALS and a family history of dementia, and 36.9% offered testing to patients with sporadic ALS, revealing a lack of consensus with respect to the approach to the typical ALS patient encountered in clinical practice.
|
30931630 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Whether this is also the case for the other 151 SOD1 mutations reported in ALS pedigrees is unknown.
|
20460594 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Whether these abnormal TDP-43 features are present in patients with SOD1-related familial ALS (fALS), or in mutant SOD1 over-expressing transgenic mouse models of ALS remains controversial.
|
19379791 |
2009 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Whether the misfolded SOD1s directly perturb axonal transport or impair other functional properties of the dynein motor, this interaction could propagate a toxic effect that ultimately causes motor neuron death in ALS.
|
18515363 |
2008 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Whereas familial ALS is well represented by transgenic mutant SOD1 mouse models, the mouse mutant wobbler (WR) develops progressive motor neuron degeneration due to a point mutation in the Vps54 gene, and provides an animal model for sporadic ALS.
|
21385376 |
2011 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
We will also discuss the finding that, unlike the constitutive proteasome subunits, the inducible subunits are overexpressed early during disease progression in SOD1 mice models of ALS.
|
22033150 |
2012 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We used the G93A mutant human SOD1 (hSOD1<sup>G93A</sup>) mouse model of ALS to assess the effects of an anthocyanin-enriched extract from strawberries (SAE) on disease onset and progression.
|
28276271 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We used mutant SOD1(G93A) transgenic mice, a commonly used animal model for ALS.
|
18712292 |
2009 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
We used enzyme-linked immunosorbent assays (ELISAs) to measure the cytokine interleukin-17A (IL-17A) in the serum of ALS patients (n = 32; 28 sporadic ALS (sALS) and 4 familial ALS (fALS)) and control subjects (n = 14; 10 healthy subjects and 4 with autoimmune disorders).
|
21062492 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We used Affymetrix GeneChip Mouse Exon 1.0 ST Array to investigate the expression profiling of lumbar spinal cord samples from SOD1-G93A transgenic mice, the widely used animal model of ALS.
|
20362558 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We transplanted human bone marrow mesenchymal stem cells (hMSCs) into the lumbar spinal cord of asymptomatic SOD1(G93A) mice, an experimental model of ALS. hMSCs were found in the spinal cord 10 weeks after, sometimes close to motoneurons and were rarely GFAP- or MAP2-positive.
|
18586098 |
2008 |