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Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model.

Hauke BaumannFabian OttJoachim WeberMichaela Trilck-WinklerAlexander MünchauSimone ZittelVladimir S KostićFrank J KaiserChristine KleinHauke BuschPhilip SeiblerKatja Lohmann
Published in: Movement disorders : official journal of the Movement Disorder Society (2021)
To our knowledge, this is the first report systematically analyzing reduced penetrance in DYT-THAP1 in a human model using transcriptomes. Our findings indicate that transcriptional alterations during cortical development influence DYT-THAP1 pathogenesis and penetrance. We reinforce previously linked pathways including dopamine and eukaryotic translation initiation factor 2 alpha signaling in the pathogenesis of dystonia including DYT-THAP1 and suggest extracellular matrix organization and deoxyribonucleic acid methylation as mediators of disease protection. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Keyphrases
  • extracellular matrix
  • endothelial cells
  • induced pluripotent stem cells
  • transcription factor
  • gene expression
  • early onset
  • deep brain stimulation
  • genome wide
  • systematic review
  • heat stress