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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 Antibodies (65) and and many more products for this protein.
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The C9orf72 hexanucleotide repeat expansion led to haploinsufficiency resulting in severely defective intracellular and extracellular vesicle trafficking
Study provides evidence for nucleolar stress in C9FTLD frontotemporal lobar degeneration patient brain, by using three-dimensional volumetric imaging; bidirectional changes in nucleolar volume dependent on the presence or absence of C9orf72 repeat RNA or protein pathologies show the heterogeneity of pathomechanisms in patient neurons
The present report further suggests a possible link between intellectual disability and C9ORF72 gene mutation.
The screening for the C9ORF72 expansion in a Spanish dementia cohort reveals a lower frequency of the mutation in frontotemporal lobar degeneration (FTLD) cases-compared to northern European populations-and diverse clinical manifestations in the positive cases, which include patients without a primary diagnosis of FTLD
The Results of this study showed that three patients carried the C9orf72 mutation: two with ALS (show IGFALS Proteins) and one with FTD (show FTL Proteins) and Parkinsonism
Degeneration and loss of anterior horn cells associated with expansions in C9orf72 occurs in the absence of dipeptide repeat proteins
optineurin (show OPTN Proteins) protein is present in a subset of the extramotor inclusions of C9ORF72-amyotrophic lateral sclerosis
An intronic GGGGCC hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 (C9orf72) gene was considered as the most common cause of amyotrophic lateral sclerosis (ALS (show IGFALS Proteins))
Pathologic expansion of the G4C2 repeat in C9orf72 is the main genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS).
There appears to be a differential pattern of cerebellar atrophy in the major genetic forms of FTD (show FTL Proteins),localized to the lobule VIIa-Crus I in the superior-posterior region of the cerebellum in C9orf72.
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.