Cargando…
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...
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 |
Ejemplares similares
-
Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing
por: Lüth, Theresa, et al.
Publicado: (2022) -
The landscape of human SVA retrotransposons
por: Chu, Chong, et al.
Publicado: (2023) -
SVA retrotransposons as modulators of gene expression
por: Quinn, John P, et al.
Publicado: (2014) -
Identification of polymorphic SVA retrotransposons using a mobile element scanning method for SVA (ME-Scan-SVA)
por: Ha, Hongseok, et al.
Publicado: (2016) -
Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset
por: Trinh, Joanne, et al.
Publicado: (2022)