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Article

Mitochondrial toxins cause widespread downregulation of pathways in X-linked dystonia-parkinsonism patient-derived neurons.

Stem cell reports - 9 Jun 2026

Grütz Karen, Künstner Axel, Krause Christin, Santinelli Letizia, Franzenburg Sören, Ghelfi Jenny, Grünewald Anne, Rosales Raymond L, Brüggemann Norbert, Busch Hauke, Klein Christine, Seibler Philip

Abstract excerpt

The genetic mechanism underlying the neurodegenerative movement disorder X-linked dystonia-parkinsonism (XDP) involves a retrotransposon insertion within the TAF1 gene. TAF1 encodes the TATA-box binding protein-associated factor 1, the largest subunit of the basal transcription factor TFIID, which connects transcription activation to the assembly of the RNA polymerase II preinitiation complex at the core promoter...

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Identifiers

PMID: 42102821
DOI: 10.1016/j.stemcr.2026.102920
PMCID: PMC13261877

Genes

TAF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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