Neuronal Transcriptome from C9orf72 Repeat Expanded Human Tissue is Associated with Loss of C9orf72 Function

A hexanucleotide G4C2 repeat expansion in C9orf72 is the most common genetic cause of familial and sporadic cases of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD). The mutation is associated with a reduction of C9orf72 protein and accumulation of toxic RNA and dipeptide r...

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Autori principali:	Elaine Y. Liu, Jenny Russ, Edward B. Lee
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	University of Münster / Open Journals System 2020-08-01
Serie:	Free Neuropathology
Soggetti:	dementia transcriptome frontotemporal amyotrophic lateral sclerosis c9orf72 tdp-43 facs rna-seq repeat expansion denn frontotemporal lobar degeneration frontotemporal dementia
Accesso online:	https://www.uni-muenster.de/Ejournals/index.php/fnp/article/view/2911
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