ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation.
Saved in:
| Title: | ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation. |
|---|---|
| Authors: | Bordi M; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Rome, Italy; Cell Stress and Survival Group, Danish Cancer Institute, Copenhagen, Denmark. Electronic address: matteo.bordi@unicatt.it., Testa B; Department of Biology, University of Rome 'Tor Vergata,' Rome, Italy., Compagnucci C; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Colasuonno F; Department of Biology, University of Rome 'Tor Vergata,' Rome, Italy; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Cipressa F; University of Rome 'La Sapienza,' Department of Biology and Biotechnology, Rome, Italy., Betterini E; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Rome, Italy., Mancini A; Cell Stress and Survival Group, Danish Cancer Institute, Copenhagen, Denmark., Carsetti C; Institute of Molecular Biology and Pathology (IBPM), National Research Council (CNR), Rome, Italy., Salvatori I; Fondazione Santa Lucia IRCCS, Rome, Italy; Institute of Translational Pharmacology, National Research Council, Rome, Italy., Ferraina C; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Rome, Italy., Yang M; Cologne Excellence Cluster on Cellular Stress Responses in Aging- Associated Diseases (CECAD), University of Cologne, Cologne, Germany., De Cegli R; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Del Prete E; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Veroni C; Department of Molecular Medicine, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway; Centre for Cancer Cell Reprogramming, Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Department of Molecular Cell Biology, Institute for Cancer Research, Oslo University Hospital Montebello, Oslo, Norway., Rizza S; Redox Biology Group, Danish Cancer Institute, Copenhagen, Denmark., Mauri S; Department of Biology, University of Padua, Padua, Italy., Ziviani E; Department of Biology, University of Padua, Padua, Italy., Macchiaiolo M; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Vecchio D; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Panfili FM; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Rizza T; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Weber G; Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, University Hospital Würzburg, 97080 Würzburg, Germany., Carrozzo R; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Ferri A; Fondazione Santa Lucia IRCCS, Rome, Italy; Institute of Translational Pharmacology, National Research Council, Rome, Italy., Campello S; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Department of Biology, University of Rome 'Tor Vergata,' Rome, Italy., Ballabio A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Molecular and Human Genetics and Neurological Research Institute, Baylor College of Medicine, Houston, TX, USA; Medical Genetics Unit, Department of Medical and Translational Science, Federico II University, Naples, Italy; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Frezza C; Cologne Excellence Cluster on Cellular Stress Responses in Aging- Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Cestra G; University of Rome 'La Sapienza,' Department of Biology and Biotechnology, Rome, Italy; Institute of Molecular Biology and Pathology (IBPM), National Research Council (CNR), Rome, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Bartuli A; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Cecconi F; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Rome, Italy. Electronic address: francesco.cecconi@unicatt.it. |
| Source: | Cell reports [Cell Rep] 2025 Sep 23; Vol. 44 (9), pp. 116230. Date of Electronic Publication: 2025 Sep 05. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
Be the first to leave a comment!
