Article

ZNF91 is an endogenous repressor of the molecular phenotype associated with X-linked dystonia-parkinsonism (XDP)

2023-10-23

Abstract excerpt

<h4>Background</h4> X-linked dystonia-parkinsonism (XDP) is a severe neurodegenerative disorder resulting from the insertion of an intronic SINE-Alu-VNTR (SVA) retrotransposon in the TAF1 gene. Recent research has revealed that the pathogenic XDP-SVA insertion leads to dysregulation of TAF1 transcription, including increased intron retention and decreased expression of exons surrounding the insertion. The Krüpp...

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Literature Corpus work: 98158a11-93c8-5468-a056-7c31d8d206bb
DOI: 10.1101/2023.10.20.563263

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