Transcriptomic profiling of DYT-TOR1A patients-derived iPSC reveals dysregulation in extracellular matrix, lipid metabolism, and Chr22q11.23
Our study in iPSC-derived from DYT-TOR1A patients shows a transcriptomic profile, which validates previous candidate genes highlighted in other animal models of dystonia. We believe that our results will help elucidate early mechanisms in neurodevelopment of DYT-TOR1A dystonia.
Authors
- Thomas T. Warner (ORCID: https://orcid.org/0000-0001-6195-6995)
- Núria Setó‐Salvia (ORCID: https://orcid.org/0000-0002-3753-0027)
- Henry Houlden
Institutions
- Queen Mary University of London (GB)
- National Hospital for Neurology and Neurosurgery (GB)
- University College London (GB)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2025-11-26
- DOI
- https://doi.org/10.1186/s12920-025-02249-7
- Primary Topic
- Neurological disorders and treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00