Use your antibodies-online credentials, if available.
No Products on your Comparison List.
Your basket is empty.
Find out more
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).
Showing 4 out of 4 products:
DNA methylation (show HELLS Proteins) analysis of C9orf72 patients revealed that increased DNAm age-acceleration is associated with a more severe disease phenotype with a shorter disease duration and earlier age of onset.
This study demonstrated that poly-GA triggers behavioral deficits through inflammation and protein sequestration that likely contribute to the prodromal symptoms and disease progression of C9orf72 patients.
A pathological repeat expansion in the C9orf72 gene (50 repeats) was found in a patient with mild diffuse brain atrophy and type 2 progressive apraxia of speech. This is the first described association of this gene with type 2 progressive speech apraxia.
The association of the C9orf72 repeat expansion with ALS and frontotemporal degeneration.
in common neurological diseases, intermediate C9orf72 repeats do not influence disease risk but may associate with higher frequency of neuropsychiatric symptoms
C9ORF72 causes suboptimal autophagy
Mutations in the footprinted region of Nup54 (show NUP54 Proteins) polymers blocked both polymerization and binding by the toxic proline:arginine poly-dipeptide suggesting that toxicity of the C9orf72 PRn (show NARFL Proteins) poly-dipeptide results in part from its ability to lock the FG repeats of nuclear pore proteins in the polymerized state.
DPR (show DACT1 Proteins)-mediated dysfunction of U2 snRNP (show LSM2 Proteins) could account for as much as approximately 44% of the mis (show AMH Proteins)-spliced cassette exons in C9ORF72 patient brains.
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.
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.