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). Additionally we are shipping C9ORF72 Antibodies (73) and and many more products for this protein.
Showing 5 out of 5 products:
G4C2 hexanucleotide repeat expansions in the C9orf72 gene seem to be the cause of numerous cases of amyotrophic lateral sclerosis (ALS (show IGFALS Proteins)) and/or frontotemporal dementia (FTD (show FTL Proteins)).
C9orf72 hexanucleotide repeat expansion (RE) mutation in amyotrophic lateral sclerosis (ALS) patients of 2 distinct origins, Ashkenazi and North Africa Jews.
C9orf72 disease is clinically heterogeneous and without evident imaging markers
that the overall frequency of C9orf72-positive cases in Greek FTD (show FTL Proteins) is high, comparable to Greek ALS (show IGFALS Proteins), similar to some Western European, but significantly higher than some Mediterranean FTD (show FTL Proteins) populations
The C9orf72 repeat expansion linked to aggressive disease in male patients with spinal-onset ALS.
The genetic mutations of C9ORF72 caused amyotrophic lateral sclerosis.
Findings provide evidence that C9orf72 poly GA is a key mediator of cytotoxicity and that cross-talk between DPR (show DACT1 Proteins) proteins likely modifies their pathogenic status in C9ALS/FTD (show FTL Proteins).
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.
C9orf72 acts by promoting the lysosomal degradation of coactivator-associated arginine methyltransferase 1 (CARM1 (show CARM1 Proteins)), which in turn regulates autophagy-lysosomal functions and lipid metabolism.
The findings suggest that C9orf72 functions as a potent negative regulator of autophagy, with a central role in coupling the cellular metabolic state with autophagy regulation.
that epigenetic repression of the C9ORF72 HRE and nearby gene promoter could impede or delay motor neuron degeneration in C9-BAC mouse models of Amyotrophic Lateral Sclerosis
Study generated C9orf72 deficient mice and showed that loss of C9orf72 leads to macrophage infiltration in multiple organs. Additionally, C9orf72 deficiency leads to autophagy defects and increased levels of many lysosomal proteins, supporting a critical role of C9orf72 in regulating autophagy/lysosomal pathway and inflammation in vivo.
that C9ORF72 acts as a modulator of small GTPases in a pathway that regulates axonal actin dynamics
target repeat-containing RNAs but preserve levels of mRNAs encoding C9ORF72 produced sustained reductions in RNA foci and dipeptide-repeat proteins
report a BAC mouse model of C9orf72 ALS/FTD (show FTL Proteins) that shows decreased survival, paralysis, muscle denervation, motor neuron loss, anxiety-like behavior, and cortical and hippocampal neurodegeneration
These results demonstrate that the C9orf72-SMCR8 protein complex functions in the regulation of metabolism and provide evidence that loss of C9orf72 function may contribute to the pathogenesis of relevant diseases
two independent mouse lines lacking the C9orf72 ortholog (3110043O21Rik) in all tissues developed normally and aged without motor neuron disease. Instead, C9orf72 null mice developed progressive splenomegaly and lymphadenopathy with accumulation of engorged macrophage-like cells.
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.
, protein C9orf72 homolog
, uncharacterized protein LOC496290