Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion

• Published in: Acta neuropathologica Vol. 147; no. 1; p. 73
• Main Authors: Udine, Evan, DeJesus-Hernandez, Mariely, Tian, Shulan, das Neves, Sofia Pereira, Crook, Richard, Finch, NiCole A., Baker, Matthew C., Pottier, Cyril, Graff-Radford, Neill R., Boeve, Bradley F., Petersen, Ronald C., Knopman, David S., Josephs, Keith A., Oskarsson, Björn, Da Mesquita, Sandro, Petrucelli, Leonard, Gendron, Tania F., Dickson, Dennis W., Rademakers, Rosa, van Blitterswijk, Marka
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.06.2024; Springer; Springer Nature B.V
• Subjects: Alternative splicing; Amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis - genetics; Amyotrophic Lateral Sclerosis - metabolism; Amyotrophic Lateral Sclerosis - pathology; Anatomy; Brain; C9orf72 Protein - genetics; C9orf72 Protein - metabolism; Cerebellum; Cerebellum - pathology; DNA Repeat Expansion - genetics; Frontotemporal dementia; Frontotemporal Lobar Degeneration - genetics; Frontotemporal Lobar Degeneration - metabolism; Frontotemporal Lobar Degeneration - pathology; Gene Expression Profiling; Genes; Genetic aspects; Homeobox; Humans; Medicine; Medicine & Public Health; Neurodegeneration; Neurosciences; Original Paper; Pathology; Protein binding; Proteins; RNA; RNA sequencing; RNA-binding protein; Transcriptome; Transcriptomes; Transcriptomics; Cryptic exons; Amyotrophic lateral sclerosis; Frontotemporal lobar degeneration; Transcriptomics; C9orf72

The most prominent genetic cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) is a repeat expansion in the gene C9orf72 . Importantly, the transcriptomic consequences of the C9orf72 repeat expansion remain largely unclear. Here, we used short-read RNA sequ...