SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene

X-linked Dystonia-Parkinsonism (XDP) is a neurodegenerative disease linked to an insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron of TAF1. This SVA insertion induces aberrant TAF1 splicing and partial intron retention, thereby decreasing levels of the full-length transcript....

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書誌詳細
出版年:PLoS One
主要な著者: Petrozziello, Tiziana, Dios, Amanda M., Mueller, Kaly A., Vaine, Christine A., Hendriks, William T., Glajch, Kelly E., Mills, Alexandra N., Mangkalaphiban, Kotchaphorn, Penney, Ellen B., Ito, Naoto, Fernandez-Cerado, Cara, Legarda, Gierold Paul A., Velasco-Andrada, M. Salvie, Acuña, Patrick J., Ang, Mark A., Muñoz, Edwin L., Diesta, Cid Czarina E., Macalintal-Canlas, Regina, Acuña, Geraldine, Sharma, Nutan, Ozelius, Laurie J., Bragg, D. Cristopher, Sadri-Vakili, Ghazaleh
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2020
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7735578/
https://ncbi.nlm.nih.gov/pubmed/33315879
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0243655
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