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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 (38) and and many more products for this protein.
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A few patients with schizophrenia / schizoaffective disorder carry C9orf72 repeat expansions; such individuals are highly likely to develop frontotemporal dementia or amyotrophic lateral sclerosis.
C9orf72 expression levels are reduced in FTD (show FTL Proteins) brains.
Hexanucleotide C9ORF72 expansions of with intermediate 20 to 29 repetitions could be associated with typical PD with psychosis or dementia and atypical parkinsonisms with dementia.
FTD (show FTL Proteins) patients with C9orf72 mutation were more likely to have ALS (show IGFALS Proteins) and psychosis. They had TDP-43 (show TARDBP Proteins) pathology.
psychosis associated with expansions in the C9orf72 gene
Study reveals associations with specific C9ORF72 transcripts and provides support for the presence of truncated transcripts and pre-mRNAs that may serve as templates for RAN translation
Findings argue against a role of dipeptide repeat protein aggregation as major and exclusive pathomechanism in C9ORF72 pathogenesis
Hexanucleotide repeat expansion in C9ORF72 is not detected in the treatment-resistant schizophrenia patients of Chinese Han.
Hexanucleotide repeat expansions in C9orf72 play a role in the pathogenesis of rapid eye movement sleep behavior disorder.
Our results demonstrate that the C9orf72 HRE is unstable through the reprogramming process; promoter hypermethylation is reduced in iPSCs, and 5hmC levels are enriched in primary and iPSC-derived motor neurons.
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.