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Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17

Coding region and intronic mutations in the tau gene cause frontotemporal dementia and parkinsonism linked to chromosome 17. Intronic mutations and some missense mutations increase splicing in of exon 10, leading to an increased ratio of four-repeat to three-repeat tau isoforms. Secondary structure...

Celý popis

Uloženo v:
Vydáno v:Proc Natl Acad Sci U S A
Hlavní autoři: Varani, Luca, Hasegawa, Masato, Spillantini, Maria Grazia, Smith, Michael J., Murrell, Jill R., Ghetti, Bernardino, Klug, Aaron, Goedert, Michel, Varani, Gabriele
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 1999
Témata:
Biological Sciences
On-line přístup:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC22217/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/10393977/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.96.14.8229
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