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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). Zusätzlich bieten wir Ihnen C9ORF72 Proteine (4) und und viele weitere Produktgruppen zu diesem Protein an.
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Human Polyclonal C9ORF72 Primary Antibody für 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
Demyelinating lesions might facilitate expressivity of C9orf72 expansion, through NF-kappaB (zeige NFKB1 Antikörper) activation. This plausible association may lead to the identification of a therapeutic target in this subgroup of C9orf72-amyotrophic lateral sclerosis patients.
These findings suggest that the presence of a C9orf72 mutation does not influence the tau signature of ALS or ALSci.
We created Smcr8 knockout mice and found that Smcr8 mutant cells exhibit impaired autophagy induction, which is similarly observed in C9orf72 knockdown cells. Mechanistically, SMCR8/C9ORF72 interacts with the key autophagy initiation ULK1 (zeige ULK1 Antikörper) complex and regulates expression and activity of ULK1 (zeige ULK1 Antikörper)
Our study did not find any pathological C9ORF72 repeat expansions in two large groups of patients with disease and multiple system atrophy, suggesting that C9ORF72 expansions do not play a major role in the susceptibility to the wider spectrum of Parkinsonism. However, study identified a statistically significant association between number of repeats and age at onset in Parkinson's disease patients.
Pathogenesis may occur either due to loss of function of the C9orf72 gene, or a toxic gain of function, via the production of repetitive sense and antisense RNA and/or repetitive dipeptide repeat proteins. Recently, mouse knockouts have suggested that a loss of function of C9orf72 alone is insufficient to lead to neurodegeneration, whilst overexpression of hexanucleotide DNA is sufficient in a wide range of model systems
We review what has been published regarding C9orf72 repeat size as modifier for phenotypic characteristics. Conclusive evidence is lacking, partly due to the difficulties in accurately defining the exact repeat size and the presence of repeat variability due to somatic mosaicism
C9orf72 patients had enhanced visual network functional connectivity versus sporadic-motor and sporadic-early cases
C9orf72 and ATXN2 repeat expansions cause ataxia, dementia, and parkinsonism in a Guyana family.
These findings indicate that tracking poly(GP) proteins in Cerebrospinal fluid could provide a means to assess target engagement of G4C2 repeat expansion RNA-based therapies in symptomatic C9ORF72 repeat expansion carriers.
Several family members of the patient suffered of atypical Parkinsonism, lateral amyotrophic sclerosis and dementia. We identified an abnormal hexanucleotide expansion in the C9orf72 gene in the proband.
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.