Selective mitophagy activation and protein aggregate accumulation in MTMR5/SBF1-deficient fibroblasts
These results reveal an uncoupling between mitophagy and macroautophagy, indicating that MTMR5/SBF1 mutations modify autophagic selectivity. Our findings provide new mechanistic insights into the pathogenesis of CMT4B3 and highlight the value of patient-derived fibroblasts for studying selective autophagy defects.
Authors
- Giovanna P. Longo (ORCID: https://orcid.org/0000-0002-9746-1430)
- Apollonia Tullo (ORCID: https://orcid.org/0000-0002-5081-4745)
- Francesco Girolamo (ORCID: https://orcid.org/0000-0001-8706-3386)
- Paola Zanfardino (ORCID: https://orcid.org/0000-0002-8297-5041)
- Alessandro Amati (ORCID: https://orcid.org/0000-0002-4995-7239)
- Stefano Doccini (ORCID: https://orcid.org/0000-0002-5534-8253)
- Filippo Maria Santorelli (ORCID: https://orcid.org/0000-0002-1359-9062)
- Vittoria Petruzzella (ORCID: https://orcid.org/0000-0001-8771-6033)
Institutions
- Fondazione Stella Maris (IT)
- Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies (IT)
- National Research Council (IT)
- University of Bari Aldo Moro (IT)
Publication Details
- Journal
- Life Sciences
- Published
- 2025-09-24
- DOI
- https://doi.org/10.1016/j.lfs.2025.123995
- Citations
- 2
- Primary Topic
- Autophagy in Disease and Therapy
- Type
- article
- Field-Weighted Citation Impact
- 2.71