Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT

The alternative splicing of the tau gene, MAPT, generates six protein isoforms in the adult human central nervous system (CNS). Tau splicing is developmentally regulated and dysregulated in disease. Mutations in MAPT that alter tau splicing cause frontotemporal dementia (FTD) with tau pathology, pro...

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Publicado no:Hum Mol Genet
Main Authors: Sposito, Teresa, Preza, Elisavet, Mahoney, Colin J., Setó-Salvia, Núria, Ryan, Natalie S., Morris, Huw R., Arber, Charles, Devine, Michael J., Houlden, Henry, Warner, Thomas T., Bushell, Trevor J., Zagnoni, Michele, Kunath, Tilo, Livesey, Frederick J., Fox, Nick C., Rossor, Martin N., Hardy, John, Wray, Selina
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4550814/
https://ncbi.nlm.nih.gov/pubmed/26136155
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv246
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