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DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery.

Neurogenetics - 1 Apr 2024

Diaw Sokhna Haissatou, Delcambre Sylvie, Much Christoph, Ott Fabian, Kostic Vladimir S, Gajos Agata, Münchau Alexander, Zittel Simone, Busch Hauke, Grünewald Anne, Klein Christine, Lohmann Katja

Abstract excerpt

Dystonia due to pathogenic variants in the THAP1 gene (DYT-THAP1) shows variable expressivity and reduced penetrance of ~ 50%. Since THAP1 encodes a transcription factor, modifiers influencing this variability likely operate at the gene expression level. This study aimed to assess the transferability of differentially expressed genes (DEGs) in neuronal cells related to pathogenic variants in the THAP1 gene, which...

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PMID: 38498291
DOI: 10.1007/s10048-024-00752-0

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