Beyond readthrough: ataluren restores mitochondrial function and reduces oxidative stress in FANCA-mutated cells via mTOR-DRP1 modulation.
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| Title: | Beyond readthrough: ataluren restores mitochondrial function and reduces oxidative stress in FANCA-mutated cells via mTOR-DRP1 modulation. |
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| Authors: | Balbi M; Department of Experimental Medicine, University of Genoa, Genoa, Italy., Guidi E; Department of Experimental Medicine, University of Genoa, Genoa, Italy., Hristodor AM; Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, Verona, Italy., Corsolini F; Unit of Hematology, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Cossu V; Department of Experimental Medicine, University of Genoa, Genoa, Italy. vanessa.cossu@edu.unige.it.; IRCCS Ospedale Policlinico San Martino, Genoa, Italy. vanessa.cossu@edu.unige.it., Bottega R; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy., Serra M; Department of Experimental Medicine, University of Genoa, Genoa, Italy., Pestarino S; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.; Hematopoietic Stem Cell Transplantation Unit, Department of Pediatric Hematology-Oncology, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Bartolucci M; Clinical Proteomics and Metabolomics Core Facility, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Cipolli M; Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, Verona, Italy., Regis S; UOSD Laboratorio di Terapie Cellulari, IRCCS Istituto Giannina Gaslini, Genova, Italy., Bezzerri V; Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.; Department of Life Sciences, Health and Health Professions, Link Campus University, Rome, Italy., Cappelli E; Unit of Hematology, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ravera S; Department of Experimental Medicine, University of Genoa, Genoa, Italy.; IRCCS Ospedale Policlinico San Martino, Genoa, Italy. |
| Source: | Cell death discovery [Cell Death Discov] 2026 Feb 28; Vol. 12 (1). Date of Electronic Publication: 2026 Feb 28. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 101665035 Publication Model: Electronic Cited Medium: Print ISSN: 2058-7716 (Print) Linking ISSN: 20587716 NLM ISO Abbreviation: Cell Death Discov Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2058-7716 |
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| DOI: | 10.1038/s41420-026-02983-6 |
