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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 Proteins (4) and and many more products for this protein.
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Human Polyclonal C9ORF72 Primary Antibody for ICC, IF - ABIN4286688
Snowden, Rollinson, Thompson, Harris, Stopford, Richardson, Jones, Gerhard, Davidson, Robinson, Gibbons, Hu, DuPlessis, Neary, Mann, Pickering-Brown: Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. in Brain : a journal of neurology 2012
Show all 4 Pubmed References
C9orf72 mutation is infrequently associated with ALS (show IGFALS Antibodies) in Han Chinese patients and suggest that a splice site mutation in C9orf72 may lead to loss of function due to haploinsufficiency of the resulting protein.
A decline in cognitive functioning, white matter integrity, and gray matter volumes are present in presymptomatic C9orf72 repeat expansion carriers.
no pathogenic GGGGCC repeats in C9orf72 were detected in any case
Study shows that the pathogenic C9orf72 expansion is not present in pathologically confirmed Caucasian Dementia with Lewy bodies patients.
that C9ORF72 acts as a modulator of small GTPases in a pathway that regulates axonal actin dynamics
C9orf72 is expressed strongly in the olfactory bulb and also in the hippocampus, besides the cerebellum and motor cortex of embryonic, postnatal and adult brain.
Toxic C9orf72 dipeptide repeats change the arginine content and alter the properties of stress granules.
Neurons in the hippocampus of C9orf72 patients are frequently devoid of hnRNPA3 (show HNRNPA3 Antibodies). Reduced nuclear hnRNPA3 (show HNRNPA3 Antibodies) in the hippocampus of patients with extended C9orf72 repeats correlates with increased DPR (show DACT1 Antibodies) deposition.
DNA repeat expansion in C9orf72 gene is associated with amyotrophic lateral sclerosis.
a complete screening for mutations in MAPT (show MAPT Antibodies), GRN (show GRN Antibodies) and C9ORF72 genes revealed a frequency of 5.4% of pathogenic mutations in a random cohort of 93 Turkish index patients 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.