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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 (60) and and many more products for this protein.
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This study suggested that Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA is the the pathogenesis of ALS (show IGFALS Proteins)/FTD (show FTL Proteins).
C9orf72 mutations may be rare in frontotemporal lobar degeneration patients in India
In our Chinese cohort, no pathological repeat expansion of C9ORF72 was detected in either spinocerebellar ataxia (show USP14 Proteins) patients or controls.
Data suggest that the conformation of C9orf72 hexanucleotide repeat expansion (HRE) DNA may provide structural basis for designing small molecules for the modulation of amyotrophic lateral sclerosis (ALS (show IGFALS Proteins)) and frontotemporal dementia (FTD (show FTL Proteins)) pathogenesis.
C9orf72 expansion mutations were found in 5 patients with frontotemporal dementia.
Despite the high frequency of psychiatric symptoms in behavioral variant frontotemporal dementia patients and the extremely high prevalence of the C9ORF72 expansion in Finland, pathogenic expansion (>40 repeats) was not detected in individuals with psychosis.
review of the genetic epidemiology and molecular pathophysiology of frontotemporal lobar degeneration /amyotrophic lateral sclerosis with hexanucleotide repeat expansions in C9orf72
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.
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.