Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases
Sign Up to like & getrecommendations! Published in 2021 at "Brain"
DOI: 10.1093/brain/awab006
Abstract: Abstract To examine the length of a hexanucleotide expansion in C9orf72, which represents the most frequent genetic cause of frontotemporal lobar degeneration and motor neuron disease, we employed a targeted amplification-free long-read sequencing technology: No-Amp… read more here.
Keywords: expansion; long read; c9orf72 linked; clinicopathological associations ... See more keywords
HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neuropathologica Communications"
DOI: 10.1186/s40478-019-0694-6
Abstract: Human homologue of yeast UV excision repair protein Rad23b (HR23B) inclusions are found in a number of neurodegenerative diseases, including frontotemporal dementia (FTD), Huntington’s disease (HD), spinocerebellar ataxia type 3 and 7 (SCA3/7), fragile X… read more here.
Keywords: frontotemporal dementia; hr23b pathology; c9orf72 linked; pathology ... See more keywords
Breakdown of the central synapses in C9orf72-linked ALS/FTD
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2022.1005112
Abstract: Amyotrophic lateral sclerosis (ALS) is a progressive, fatal neurodegenerative disease that leads to the death of motor and cortical neurons. The clinical manifestations of ALS are heterogenous, and efficacious treatments to significantly slow the progression… read more here.
Keywords: synapses c9orf72; c9orf72 linked; disease; breakdown central ... See more keywords