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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Vydáno v:Hum Mol Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2015
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On-line přístup: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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