Bromodomain inhibitors regulate the C9ORF72 locus in ALS
نویسندگان
چکیده
منابع مشابه
[C9orf72 in Japanese amyotrophic lateral sclerosis (ALS)].
Recently, C9orf72 hexanucleotide (GGGGCC) repeat expansion in intron 1 was reported to be the most common cause of sporadic and familial amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD) in the Caucasian population. The frequency of the intronic repeat expansion is up to 21%-57% in familial ALS and 3%-21% in sporadic ALS.In the Japanese population, the C9orf72 repeat expansion w...
متن کاملThe Role of Dipeptide Repeats in C9ORF72-Related ALS-FTD
Expansion of a hexanucleotide (GGGGCC) repeat in the gene chromosome 9 open reading frame 72 (C9ORF72) is the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia (FTD). Three non-exclusive mechanisms have been proposed to contribute to the pathology initiated by this genetic insult. First, it was suggested that decreased expression of the C9orf72 protein product may c...
متن کاملLost & found: C9ORF72 and the autophagy pathway in ALS/FTD.
C9ORF72 expression is reduced in a substantial number of patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), which may contribute to disease pathogenesis. However, its normal molecular function remains unknown. In this issue of The EMBO Journal, Sellier et al (2016) identified a novel protein complex consisting of C9ORF72, WDR41, and SMCR8 that acts as a GDP-GTP...
متن کاملFTD/ALS families are no longer orphaned: the C9ORF72 story.
Neurology 2012;79:962–964 The frontotemporal degenerations (FTD) are, as a group, considered as orphan diseases. A variety of clinical syndromes are encompassed by FTD, including behavioral variant FTD (bvFTD), and semantic and nonfluent/agrammatic variants of primary progressive aphasia (PPA). Motor neuron disease or amyotrophic lateral sclerosis (ALS) may co-occur in small percentages of spor...
متن کاملMultiparametric MRI study of ALS stratified for the C9orf72 genotype.
OBJECTIVE To describe the patterns of cortical and subcortical changes in amyotrophic lateral sclerosis (ALS) stratified for the C9orf72 genotype. METHODS A prospective, single-center, single-protocol, gray and white matter magnetic resonance case-control imaging study was undertaken with 30 C9orf72-negative patients with ALS, 9 patients with ALS carrying the C9orf72 hexanucleotide repeat exp...
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ژورنال
عنوان ژورنال: Experimental Neurology
سال: 2015
ISSN: 0014-4886
DOI: 10.1016/j.expneurol.2015.06.017