Structural and functional impact of the POLD1 Ser605del variant in MDPL syndrome: insights from protein–protein interactions
We identified a novel short linear motif (FSLYP) in the Ser605del POLD1 protein that mediates abnormal interaction with TRF1, revealing a structural and functional link between POLD1 and telomere biology, contributing to premature aging phenotypes. This work provides new insights into MDPL pathogenesis and lays the foundation for future research into aging-related therapies.
Authors
- Isabella Romeo (ORCID: https://orcid.org/0000-0002-5799-7863)
- Michela Murdocca (ORCID: https://orcid.org/0000-0001-8088-3664)
- Stefano Alcaro (ORCID: https://orcid.org/0000-0002-0437-358X)
- Gerardo Pepe (ORCID: https://orcid.org/0000-0001-5308-2765)
- Giuseppe Novelli (ORCID: https://orcid.org/0000-0002-7781-602X)
- Manuela Helmer‐Citterich (ORCID: https://orcid.org/0000-0001-9530-7504)
- Antonio Curcio (ORCID: https://orcid.org/0009-0005-6818-5325)
- Federica Sangiuolo
- Serena Maccaroni
Institutions
- University of Rome Tor Vergata (IT)
- Magna Graecia University (IT)
Publication Details
- Journal
- Human Genomics
- Published
- 2025-11-12
- DOI
- https://doi.org/10.1186/s40246-025-00848-0
- Primary Topic
- Telomeres, Telomerase, and Senescence
- Type
- article
- Field-Weighted Citation Impact
- 0.00