Property Summary

NCBI Gene PubMed Count 257
Grant Count 101
R01 Count 35
Funding $24,299,878.91
PubMed Score 523.33
PubTator Score 521.62

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q96LT7 A8K5W0 D3DRK6 G8I0B6 Q6NUS9
Symbols ALSFTD
FTDALS
DENNL72
FTDALS1

Gene

 GO Function (1)

 GO Process (2)

Gene RIF (236)

PMID Text
27079381 C9orf72 expression levels are reduced in FTD brains.
26989253 C9orf72 expression was highest in myeloid cells, and the loss of C9orf72 led to lysosomal accumulation and altered immune responses in macrophages and microglia, with age-related neuroinflammation similar to C9orf72 amyotrophic lateral sclerosis (ALS) but not sporadic ALS human patient tissue.
26916632 This study suggested that Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA is the the pathogenesis of ALS/FTD.
26862832 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.
26810537 In our Chinese cohort, no pathological repeat expansion of C9ORF72 was detected in either spinocerebellar ataxia patients or controls.
26746986 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.
26723138 A few patients with schizophrenia / schizoaffective disorder carry C9orf72 repeat expansions; such individuals are highly likely to develop frontotemporal dementia or amyotrophic lateral sclerosis.
26691640 Hexanucleotide repeat expansion in C9ORF72 is not detected in the treatment-resistant schizophrenia patients of Chinese Han.
26690922 Methylation of C9orf72 expansion reduces RNA foci formation and dipeptide-repeat proteins expression in cells
26674655 In a Belgian cohort, C9orf72 carriers had an earlier age of onset for frontotemporal dementia than TBK1 carriers.
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AA Sequence

MSTLCPPPSPAVAKTEIALSGKSPLLAATFAYWDNILGPRVRHIWAPKTEQVLLSDGEITFLANHTLNGE      1 - 70
ILRNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTELSFYLPLHRVCVDRLTHIIR     71 - 140
KGRIWMHKERQENVQKIILEGTERMEDQGQSIIPMLTGEVIPVMELLSSMKSHSVPEEIDIADTVLNDDD    141 - 210
IGDSCHEGFLLNAISSHLQTCGCSVVVGSSAEKVNKIVRTLCLFLTPAERKCSRLCEAESSFKYESGLFV    211 - 280
QGLLKDSTGSFVLPFRQVMYAPYPTTHIDVDVNTVKQMPPCHEHIYNQRRYMRSELTAFWRATSEEDMAQ    281 - 350
DTIIYTDESFTPDLNIFQDVLHRDTLVKAFLDQVFQLKPGLSLRSTFLAQFLLVLHRKALTLIKYIEDDT    351 - 420
QKGKKPFKSLRNLKIDLDLTAEGDLNIIMALAEKIKPGLHSFIFGRPFYTSVQERDVLMTF             421 - 481
//

Text Mined References (255)

PMID Year Title
27107012 2016 Pooled-matrix protein interaction screens using Barcode Fusion Genetics.
27079381 2016 C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.
26989253 2016 C9orf72 is required for proper macrophage and microglial function in mice.
26916632 2016 Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD.
26862832 2016 The C9ORF72 expansion sizes in patients with psychosis: a population-based study on the Northern Finland Birth Cohort 1966.
26810537 2016 C9ORF72 repeat expansion is not detected in sporadic ataxia patients in mainland China.
26746986 2016 C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells.
26723138 2016 C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis.
26691640 2015 Hexanucleotide Repeat Expansion in C9ORF72 Is Not Detected in the Treatment-Resistant Schizophrenia Patients of Chinese Han.
26690922 2016 Methylation of C9orf72 expansion reduces RNA foci formation and dipeptide-repeat proteins expression in cells.
More...