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ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation.

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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
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  Data: ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation.
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  Data: <searchLink fieldCode="AU" term="%22Bordi+M%22">Bordi M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Testa+B%22">Testa B</searchLink>; Department of Biology, University of Rome 'Tor Vergata,' Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Compagnucci+C%22">Compagnucci C</searchLink>; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Colasuonno+F%22">Colasuonno F</searchLink>; Department of Biology, University of Rome 'Tor Vergata,' Rome, Italy; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Cipressa+F%22">Cipressa F</searchLink>; University of Rome 'La Sapienza,' Department of Biology and Biotechnology, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Betterini+E%22">Betterini E</searchLink>; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Mancini+A%22">Mancini A</searchLink>; Cell Stress and Survival Group, Danish Cancer Institute, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Carsetti+C%22">Carsetti C</searchLink>; Institute of Molecular Biology and Pathology (IBPM), National Research Council (CNR), Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Salvatori+I%22">Salvatori I</searchLink>; Fondazione Santa Lucia IRCCS, Rome, Italy; Institute of Translational Pharmacology, National Research Council, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Ferraina+C%22">Ferraina C</searchLink>; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Yang+M%22">Yang M</searchLink>; Cologne Excellence Cluster on Cellular Stress Responses in Aging- Associated Diseases (CECAD), University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22De+Cegli+R%22">De Cegli R</searchLink>; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Del+Prete+E%22">Del Prete E</searchLink>; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Veroni+C%22">Veroni C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Rizza+S%22">Rizza S</searchLink>; Redox Biology Group, Danish Cancer Institute, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Mauri+S%22">Mauri S</searchLink>; Department of Biology, University of Padua, Padua, Italy.<br /><searchLink fieldCode="AU" term="%22Ziviani+E%22">Ziviani E</searchLink>; Department of Biology, University of Padua, Padua, Italy.<br /><searchLink fieldCode="AU" term="%22Macchiaiolo+M%22">Macchiaiolo M</searchLink>; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Vecchio+D%22">Vecchio D</searchLink>; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Panfili+FM%22">Panfili FM</searchLink>; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Rizza+T%22">Rizza T</searchLink>; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Weber+G%22">Weber G</searchLink>; Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, University Hospital Würzburg, 97080 Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Carrozzo+R%22">Carrozzo R</searchLink>; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Ferri+A%22">Ferri A</searchLink>; Fondazione Santa Lucia IRCCS, Rome, Italy; Institute of Translational Pharmacology, National Research Council, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Campello+S%22">Campello S</searchLink>; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Department of Biology, University of Rome 'Tor Vergata,' Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Ballabio+A%22">Ballabio A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Frezza+C%22">Frezza C</searchLink>; Cologne Excellence Cluster on Cellular Stress Responses in Aging- Associated Diseases (CECAD), University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Cestra+G%22">Cestra G</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Tartaglia+M%22">Tartaglia M</searchLink>; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Bartuli+A%22">Bartuli A</searchLink>; Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Cecconi+F%22">Cecconi F</searchLink>; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Rome, Italy. Electronic address: francesco.cecconi@unicatt.it.
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