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Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from C9ORF72 is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Additionally we are shipping C9ORF72 Antibodies (67) and and many more products for this protein.
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C9ORF72 repeat expansion leads to the upregulation of GluA1 (show GRIA1 Proteins) in motor neurons, that could lead to a potential pathogenic excitotoxic mechanism in amyotrophic lateral sclerosis patients.
This study demonstrated that in ALS (show IGFALS Proteins) with cognition disorder has C9orf72 mutation.
von Economo neuron density was reduced in sporadic behavioral variant frontotemporal dementia (bvFTD) cases only. Thalamus degeneration was identified only in bvFTD cases with the C9ORF72 repeat expansion, and to a similar extent in cases with and without psychosis. No significant difference in von Economo neuron density or thalamus degeneration was seen between bvFTD cases with or without the C9ORF72 repeat expansion.
The result of this study concluded that behavioral variant frontotemporal dementia patients carrying the C9ORF72 expansion may display more pronounced executive deficits together with less severe verbal memory impairment as compared to their non-carrier behavioral variant frontotemporal dementia counterparts.
The C9orf72 hexanucleotide repeat was only found in humans, chimpanzees and gorillas, species with higher opposability indices
toxic poly-dipeptides translated from C9orf72 may account for hereditary cases of amyotrophic lateral sclerosis and frontotemporal dementia
Demyelinating lesions might facilitate expressivity of C9orf72 expansion, through NF-kappaB (show NFKB1 Proteins) activation. This plausible association may lead to the identification of a therapeutic target in this subgroup of C9orf72-amyotrophic lateral sclerosis patients.
These findings suggest that the presence of a C9orf72 mutation does not influence the tau signature of ALS or ALSci.
We created Smcr8 knockout mice and found that Smcr8 mutant cells exhibit impaired autophagy induction, which is similarly observed in C9orf72 knockdown cells. Mechanistically, SMCR8/C9ORF72 interacts with the key autophagy initiation ULK1 (show ULK1 Proteins) complex and regulates expression and activity of ULK1 (show ULK1 Proteins)
Our study did not find any pathological C9ORF72 repeat expansions in two large groups of patients with disease and multiple system atrophy, suggesting that C9ORF72 expansions do not play a major role in the susceptibility to the wider spectrum of Parkinsonism. However, study identified a statistically significant association between number of repeats and age at onset in Parkinson's disease patients.
Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Multiple transcript variants encoding different isoforms have been found for this gene.