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Transcriptional Alterations in X-Linked Dystonia–Parkinsonism Caused by the SVA Retrotransposon

X-linked dystonia–parkinsonism (XDP) is a severe neurodegenerative disorder that manifests as adult-onset dystonia combined with parkinsonism. A SINE-VNTR-Alu (SVA) retrotransposon inserted in an intron of the TAF1 gene reduces its expression and alters splicing in XDP patient-derived cells. As a co...

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Detalles Bibliográficos
Autores principales: Pozojevic, Jelena, Algodon, Shela Marie, Cruz, Joseph Neos, Trinh, Joanne, Brüggemann, Norbert, Laß, Joshua, Grütz, Karen, Schaake, Susen, Tse, Ronnie, Yumiceba, Veronica, Kruse, Nathalie, Schulz, Kristin, Sreenivasan, Varun K. A., Rosales, Raymond L., Jamora, Roland Dominic G., Diesta, Cid Czarina E., Matschke, Jakob, Glatzel, Markus, Seibler, Philip, Händler, Kristian, Rakovic, Aleksandar, Kirchner, Henriette, Spielmann, Malte, Kaiser, Frank J., Klein, Christine, Westenberger, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8875906/
https://www.ncbi.nlm.nih.gov/pubmed/35216353
http://dx.doi.org/10.3390/ijms23042231