PURA protein mislocalisation in the nucleus: mechanistic basis for transcriptional dysregulation and DNA unwinding deficits in a model of the p.L148Wfs*77 <i>PURA</i> variant
Nuclear mislocalisation of the <i>PURA</i> variant dysregulates transcriptional balance and impairs DNA unwinding, linking PURA's structural integrity to neurodevelopmental deficits. This highlights PURA's dual roles in cytoplasmic RNA regulation and nuclear transcription, providing mechanistic insights into PURA syndrome pathogenesis.
Authors
- Shanling Liu (ORCID: https://orcid.org/0000-0001-8788-7991)
- He Wang (ORCID: https://orcid.org/0000-0003-4078-7939)
- Jingjing He
- Yan Wang (ORCID: https://orcid.org/0000-0002-5076-4282)
- Ping Wang (ORCID: https://orcid.org/0009-0009-4040-1144)
Institutions
- Sichuan University (CN)
- West China Second University Hospital of Sichuan University (CN)
- Third People's Hospital of Chengdu (CN)
- Southwest Jiaotong University (CN)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-10-22
- DOI
- https://doi.org/10.1136/jmg-2025-110818
- Primary Topic
- Polyomavirus and related diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- National Key Research and Development Program of China