Articles with "sva retrotransposon" as a keyword



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

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Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms23042231

Abstract: 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… read more here.

Keywords: dystonia parkinsonism; transcriptional alterations; linked dystonia; parkinsonism ... See more keywords