Soluble and insoluble dipeptide repeat protein measurements in C9orf72-frontotemporal dementia brains show regional differential solubility and correlation of poly-GR with clinical severity

Abstract A C9orf72 repeat expansion is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis. One of the suggested pathomechanisms is toxicity from dipeptide repeat proteins (DPRs), which are generated via unconventional translation of sense and antisense r...

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Hlavní autoři: Annelies Quaegebeur, Idoia Glaria, Tammaryn Lashley, Adrian M. Isaacs
Médium: Artigo
Jazyk:Inglês
Vydáno: BMC 2020-11-01
Edice:Acta Neuropathologica Communications
Témata:
Frontotemporal dementia
Frontotemporal lobar degeneration
C9orf72 mutation
Dipeptide repeat proteins
Poly-GR
Solubility
On-line přístup:http://link.springer.com/article/10.1186/s40478-020-01036-y
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