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Article

DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.

Brain : a journal of neurology - 21 Nov 2022

Cheng Fubo, Zheng Wenxu, Barbuti Peter Antony, Bonsi Paola, Liu Chang, Casadei Nicolas, Ponterio Giulia, Meringolo Maria, Admard Jakob, Dording Claire Marie, Yu-Taeger Libo, Nguyen Huu Phuc, Grundmann-Hauser Kathrin, Ott Thomas, Houlden Henry, Pisani Antonio, Krüger Rejko, Riess Olaf

Abstract excerpt

DYT6 dystonia is caused by mutations in the transcription factor THAP1. THAP1 knock-out or knock-in mouse models revealed complex gene expression changes, which are potentially responsible for the pathogenesis of DYT6 dystonia. However, how THAP1 mutations lead to these gene expression alterations and whether the gene expression changes are also reflected in the brain of THAP1 patients are still unclear. In this...

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PMID: 35015830
DOI: 10.1093/brain/awac001

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