AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutant SOD1 overexpression led to an increase in TDP-43 modification in the detergent-insoluble fraction in the spinal cord of SOD1 mice and fALS patient.
|
29982983 |
2019 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deciphering the loss of metal binding due to mutation D83G of human SOD1 protein causing FALS disease.
|
28899654 |
2018 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene encoding superoxide dismutase 1 (SOD1) lead to misfolding and aggregation of SOD1 and cause familial amyotrophic lateral sclerosis (FALS).
|
30518612 |
2018 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Taken together with our previous results of mutational analyses by direct nucleotide sequencing analysis, a microarray-based resequencing method, or repeat-primed PCR analysis, causative mutations were identified in 41 of the 68 families (60.3%) with SOD1 being the most frequent cause of FALS (39.7%).
|
29033165 |
2018 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here we report a gain in function for mutant (mt) superoxide dismutase I (SOD1), a cause of familial amyotrophic lateral sclerosis (FALS), wherein small soluble oligomers of mtSOD1 acquire a membrane toxicity.
|
29627580 |
2018 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
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 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center.
|
27978769 |
2017 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Essential role of ICAM-1 in aldosterone-induced atherosclerosis.
|
28089144 |
2017 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We performed whole genome sequencing on 8 familial ALS (FALS) patients with superoxide dismutase 1 (SOD1) mutation and whole exome sequencing on 46 sporadic ALS (SALS) patients living in Hong Kong and found that 67% had at least 1 rare variant in the exons of 40 ALS genes; 22% had 2 or more.
|
28709720 |
2017 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The genetic substitution mutation of Cys146Arg in the SOD1 protein is predominantly found in the Japanese population suffering from familial amyotrophic lateral sclerosis (FALS).
|
28621357 |
2017 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Analysis of SOD1 mutations in a Chinese population with amyotrophic lateral sclerosis: a case-control study and literature review.
|
28291249 |
2017 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis.
|
28222900 |
2017 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.
|
28105640 |
2017 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The misfolding and aggregation of SOD1 is linked to inherited, or familial, amyotrophic lateral sclerosis (FALS), a progressive and fatal neurodegenerative disease.
|
28472188 |
2017 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
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 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China.
|
27604643 |
2016 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The G41D mutation in the superoxide dismutase 1 gene is associated with slow motor neuron progression and mild cognitive impairment in a Chinese family with amyotrophic lateral sclerosis.
|
26069299 |
2016 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, this is the first report of mutation in SOD1 associated with FALS in India.
|
26630559 |
2016 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Use of this new FALS-24B-SOD1(G93A) fly model holds promise for better understanding of the mitochondrial affectation process in FALS and for the discovery of novel therapeutic compounds able to reverse mitochondrial dysfunction in this fatal disease.
|
27163198 |
2016 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although the ubiquitin-proteasome system is believed to play an important role in the pathogenesis of familial amyotrophic lateral sclerosis (FALS), caused by mutations in Cu/Zn-superoxide dismutase 1 (SOD1), the mechanism of how mutant SOD1 protein is regulated in cells is still poorly understood.
|
27773815 |
2016 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Conformational Disorder of the Most Immature Cu, Zn-Superoxide Dismutase Leading to Amyotrophic Lateral Sclerosis.
|
26694608 |
2016 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
SALS-linked WT-SOD1 adopts a highly similar helical conformation as FALS-causing L126Z-SOD1 in a membrane environment.
|
27378311 |
2016 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
That zinc-deficiency is sufficient to produce a similar transformation in wild-type SOD1 implies that the wild-type and FALS-linked SOD1 mutants may trigger ALS by a common mechanism.
|
25306968 |
2015 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Destabilization of the dimer interface is a common consequence of diverse ALS-associated mutations in metal free SOD1.
|
26362407 |
2015 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
1.000 |
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 |