|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
<b>Background:</b> Pathogenic variants in ALS genes are known to be present in up to 70% of familial and 10% of apparently sporadic ALS cases, and can be associated with risks for ALS only, or risks for other neurodegenerative diseases (eg. frontotemporal dementia).
|
31702461 |
2019 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Previous studies revealed that many causative mutations in AD, PD, and FTD/ALS genes could be found in clinical familial and sporadic AD.
|
30917570 |
2019 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Amyotrophic lateral sclerosis (ALS) is a heterogeneous motor neuron disease for which no effective treatment is available, despite decades of research into SOD1-mutant familial ALS (FALS).
|
30127392 |
2018 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we have characterized both protein and RNA TDP-43 interactors from neuropathologically normal (control) and ALS-affected ventral lumbar spinal cord, including sporadic ALS (sALS) and familial cases harboring either a A4T mutant SOD1 or a 3' UTR *c.41G>A mutant FUS/TLS or expressing pathological c9orf72 expanded repeats.
|
29513014 |
2018 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Previous genetic studies discovered >180 different mutations in the SOD1 gene that caused familial (inherited) amyotrophic lateral sclerosis (fALS).
|
28558143 |
2017 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
The structural instability of SOD1 and the detection of SOD1-positive inclusions in familial-ALS patients supports a potential causal role for misfolded and/or aggregated SOD1 in ALS pathology.
|
29053667 |
2017 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Although multiple CHCHD10 mutations are associated with the spectrum of familial and sporadic frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) diseases, neither the normal function of endogenous CHCHD10 nor its role in the pathological milieu (that is, TDP-43 pathology) of FTD/ALS have been investigated.
|
28585542 |
2017 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In particular, mutations in the SOD1 gene are linked to the familial form of amyotrophic lateral sclerosis (ALS).
|
28950184 |
2017 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Distinct conformers of transmissible misfolded SOD1 distinguish human SOD1-FALS from other forms of familial and sporadic ALS.
|
27704280 |
2016 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SOD1 gene encoding the superoxide dismutase 1 are present in 15% of familial ALS cases and in 2% of sporadic cases.
|
26605782 |
2016 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Cu(2+)/Zn(2+) superoxide dismutase 1 (SOD1) gene underlie 14-23 % of familial and 1-7 % of sporadic cases of amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disease characterized by a specific loss of motor neurons in the brain and spinal cord.
|
25482048 |
2016 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Most cases of ALS are sporadic, but 10% are familial and mutations affecting the copper (Cu)-dependent antioxidant Cu/Zn-superoxide dismutase (SOD1) are the most common familial cause.
|
27357743 |
2016 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in a gene encoding a ubiquitous antioxidant enzyme, Cu,Zn-superoxide dismutase (SOD1), have been first identified as a cause of familial forms of ALS.
|
27136532 |
2016 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hexanucleotide repeat expansion in the bi-directionally transcribed C9orf72 gene is the most frequent cause of familial ALS and frontotemporal dementia (FTD).Kramer et al.
|
28009271 |
2016 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Aggregation of copper-zinc superoxide dismutase (SOD1) is a defining feature of familial ALS caused by inherited mutations in the sod1 gene, and misfolded and aggregated forms of wild-type SOD1 are found in both sporadic and familial ALS cases.
|
26511321 |
2015 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patients were genotyped for C9orf72 (18.3%), SOD1 (12.2%), FUS (5%), TARDBP (3.7%), and UBQLN2 (2.4%) gene mutations, which together account for approximately 40% of familial ALS in Turkey.
|
25681989 |
2015 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
In amyotrophic lateral sclerosis (ALS) patients with known genetic cause, mutations in chromosome 9 open reading frame 72 (C9orf72) and superoxide dismutase 1 (SOD1) account for most familial and late-onset sporadic cases, whereas mutations in fused in sarcoma (FUS) can be identified in just around 5% of familial and 1% of overall sporadic cases.
|
26362943 |
2015 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We investigated Saudi patients with familial and sporadic Keratoconus for mutations in the Superoxide dismutase 1, soluble (SOD1) gene.
|
24547927 |
2015 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although most cases of ALS are sporadic, about 5-10% of cases are familial (FALS) with approximately 20% of FALS caused by mutations in the Cu/Zn superoxide dismutase (SOD1) gene.
|
25763819 |
2015 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
About 10% of all ALS cases are familial (fALS), among which 15-20% are linked to Cu/Zn superoxide dismutase (SOD1) mutations, usually inherited in an autosomal dominant manner.
|
25760436 |
2015 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Previously, we screened mutations in 5 ALS genes including SOD1 and FUS in 9 fALS and 249 sALS patients and found a total of 15 patients with either SOD1 (7 fALS and 3 sALS) or FUS (1 fALS and 4 sALS) mutations.
|
25457557 |
2015 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
NanoString microRNA, microglia and immune gene profiles, protein mass spectrometry, and RNA-seq analyses were measured in spinal cord microglia, splenic monocytes, and spinal cord tissue from SOD1 mice and in spinal cord tissue of familial and sporadic ALS. miR-155 was targeted by genetic ablation or by peripheral or centrally administered anti-miR-155 inhibitor in SOD1 mice.
|
25381879 |
2015 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
While most cases of ALS are sporadic, 10% are familial (FALS) with 20% of FALS caused by a mutation in the gene that codes for the enzyme Cu/Zn superoxide dismutase (SOD1).
|
24945277 |
2014 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SOD1 gene cause a subset of familial ALS by a gain of toxicity.
|
24108104 |
2014 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in superoxide dismutase 1 (SOD1) cause familial forms of amyotrophic lateral sclerosis (fALS).
|
25121776 |
2014 |