In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers
Sign Up to like & getrecommendations! Published in 2017 at "Acta Neuropathologica"
DOI: 10.1007/s00401-017-1725-7
Abstract: A growing body of evidence suggests that a loss of chromosome 9 open reading frame 72 (C9ORF72) expression, formation of dipeptide-repeat proteins, and generation of RNA foci contribute to disease pathogenesis in amyotrophic lateral sclerosis… read more here.
Keywords: c9orf72 expansion; rna foci; expansion carriers; rna ... See more keywords
Three-dimensional imaging in myotonic dystrophy type 1
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DOI: 10.1212/nxg.0000000000000484
Abstract: Objective We aimed to determine whether 3D imaging reconstruction allows identifying molecular:clinical associations in myotonic dystrophy type 1 (DM1). Methods We obtained myoblasts from 6 patients with DM1 and 6 controls. We measured cytosine-thymine-guanine (CTG)… read more here.
Keywords: rna foci; myotonic dystrophy; number; dystrophy type ... See more keywords
Unaffected mosaic C9orf72 case
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DOI: 10.1212/wnl.0000000000004865
Abstract: Objective Suggested C9orf72 disease mechanisms for amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration include C9orf72 haploinsufficiency, G4C2/C4G2 RNA foci, and dipeptide repeat (DPR) proteins translated from the G4C2 expansion; however, the role of small… read more here.
Keywords: rna foci; pathology; c9orf72 case; c9orf72 ... See more keywords
DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis and Synaptic Plasticity in Association with RNA Foci and Mis-Splicing in the Hippocampus
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DOI: 10.3390/ijms23020592
Abstract: Myotonic dystrophy type 1 (DM1) is a severe neuromuscular disease mediated by a toxic gain of function of mutant RNAs. The neuropsychological manifestations affect multiple domains of cognition and behavior, but their etiology remains elusive.… read more here.
Keywords: mis splicing; mice; glutamate; rna foci ... See more keywords