Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.

Autor: Aleo SJ; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Departments of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Del Dotto V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Romagnoli M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Fiorini C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Capirossi G; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Peron C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Maresca A; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Caporali L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Capristo M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Tropeano CV; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Zanna C; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Ross-Cisneros FN; Doheny Eye Institute, Pasadena, CA, USA., Sadun AA; Doheny Eye Institute, Pasadena, CA, USA; Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Pignataro MG; Departments of Radiology, Oncology, and Pathology, Sapienza, University of Rome, Rome, Italy., Giordano C; Departments of Radiology, Oncology, and Pathology, Sapienza, University of Rome, Rome, Italy., Fasano C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Cavaliere A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Porcelli AM; Departments of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Tioli G; Departments of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Musiani F; Departments of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Catania A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Marzoli SB; Neuro-Ophthalmology Center and Ocular Electrophysiology Laboratory, IRCCS Istituto Auxologico Italiano, Capitanio Hospital, Milan, Italy., De Negri A; Azienda Ospedaliera San Camillo-Forlanini, Roma, Italy., Cascavilla ML; Scientific Institute San Raffaele, Milan, Italy., Battista M; Scientific Institute San Raffaele, Milan, Italy., Barboni P; Scientific Institute San Raffaele, Milan, Italy., Carbonelli M; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Amore G; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Smirnov D; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Munich, Germany., Vasilescu C; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Munich, Germany., Farzeen A; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Munich, Germany., Blickhaeuser B; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Munich, Germany., Prokisch H; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Munich, Germany., Priglinger C; Department of Ophthalmology, LMU University Hospital, LMU Munich, Munich, Germany., Livonius B; Department of Ophthalmology, LMU University Hospital, LMU Munich, Munich, Germany., Catarino CB; Department of Neurology, Friedrich Baur Institute, LMU Klinikum, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany., Klopstock T; Department of Neurology, Friedrich Baur Institute, LMU Klinikum, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany., Tiranti V; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy. Electronic address: valerio.carelli@unibo.it., Ghelli AM; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Departments of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy. Electronic address: annamaria.ghelli@unibo.it.

Publikováno v: Cell reports. Medicine [Cell Rep Med] 2024 Feb 20; Vol. 5 (2), pp. 101383. Date of Electronic Publication: 2024 Jan 24.

Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNA ^Lys .

Autor: Capristo M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy., Del Dotto V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy., Tropeano CV; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy., Fiorini C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy., Caporali L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy., La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy., Valentino ML; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy.; Department of Biomedical and NeuroMotor Sciences, University of Bologna, via Altura 3, 40139, Bologna, Italy., Montopoli M; Department of Pharmaceutical and Pharmacological Sciences, University of Padova, via Largo Meneghetti 2, 3513, Padova, Italy., Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy. valerio.carelli@unibo.it.; Department of Biomedical and NeuroMotor Sciences, University of Bologna, via Altura 3, 40139, Bologna, Italy. valerio.carelli@unibo.it., Maresca A; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy. alessandra.maresca@isnb.it.

Publikováno v: Molecular medicine (Cambridge, Mass.) [Mol Med] 2022 Aug 03; Vol. 28 (1), pp. 90. Date of Electronic Publication: 2022 Aug 03.

Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.

Autor: Peverelli L; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, Milan, Italy.; Neuromuscular and Rare Disease Unit, Department of Neuroscience, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy., Catania A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, Milan, Italy., Marchet S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, Milan, Italy., Ciasca P; Neuro-Ophthalmology Service and Ocular Electrophysiology Laboratory, Department of Ophthalmology, Scientific Institute Auxologico Capitanio Hospital, Milan, Italy., Cammarata G; Neuro-Ophthalmology Service and Ocular Electrophysiology Laboratory, Department of Ophthalmology, Scientific Institute Auxologico Capitanio Hospital, Milan, Italy., Melzi L; Neuro-Ophthalmology Service and Ocular Electrophysiology Laboratory, Department of Ophthalmology, Scientific Institute Auxologico Capitanio Hospital, Milan, Italy., Bellino A; Neuromuscular Disorders Unit, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, Milan, Italy., Fancellu R; Neurology Unit, IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Ospedale Policlinico San Martino, Genoa, Italy., Lamantea E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, Milan, Italy., Capristo M; IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto delle Scienze Neurologiche di Bologna, Unità Operativa Complessa (UOC) Clinica Neurologica, Bologna, Italy., Caporali L; IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto delle Scienze Neurologiche di Bologna, Unità Operativa Complessa (UOC) Clinica Neurologica, Bologna, Italy., La Morgia C; IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto delle Scienze Neurologiche di Bologna, Unità Operativa Complessa (UOC) Clinica Neurologica, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Carelli V; IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto delle Scienze Neurologiche di Bologna, Unità Operativa Complessa (UOC) Clinica Neurologica, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Bianchi Marzoli S; Neuro-Ophthalmology Service and Ocular Electrophysiology Laboratory, Department of Ophthalmology, Scientific Institute Auxologico Capitanio Hospital, Milan, Italy., Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, Milan, Italy.

Publikováno v: Frontiers in neurology [Front Neurol] 2021 Jun 09; Vol. 12, pp. 657317. Date of Electronic Publication: 2021 Jun 09 (Print Publication: 2021).

Respiratory Chain Complex I Deficiency in Leber Hereditary Optic Neuropathy: Insights from Ophthalmologic and Molecular Investigations in Tunisia.

Autor: Chkioua, Latifa¹ (AUTHOR) chkioualatifa2002@yahoo.fr, Amri, Yessine^2,3 (AUTHOR), Sahli, Chayma² (AUTHOR), Nasri, Tawfik¹ (AUTHOR), Miladi, Mohamed Omar⁴ (AUTHOR), Massoud, Taieb² (AUTHOR), Laradi, Sandrine⁵ (AUTHOR), Ghorbel, Mohamed⁴ (AUTHOR), Ben Abdennebi, Hassen¹ (AUTHOR)

Publikováno v: BMC Genomics. 11/22/2024, Vol. 25 Issue 1, p1-13. 13p.

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.

Autor: Stenton SL; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Sheremet NL; Federal State Budgetary Institution of Science 'Research Institute of Eye Diseases,' Moscow, Russia., Catarino CB; Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany., Andreeva NA; Federal State Budgetary Institution of Science 'Research Institute of Eye Diseases,' Moscow, Russia., Assouline Z; Fédération de Génétique et Institut Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris, France., Barboni P; Scientific Institute San Raffaele, Milan, Italy., Barel O; Genomics Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel., Berutti R; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Bychkov I; Research Centre for Medical Genetics, Moscow, Russia., Caporali L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Capristo M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Carbonelli M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Cascavilla ML; Scientific Institute San Raffaele, Milan, Italy., Charbel Issa P; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., Freisinger P; Department of Pediatrics, Klinikum am Steinenberg, Reutlingen, Germany., Gerber S; Laboratory Genetics in Ophthalmology (LGO), INSERM UMR1163 - Institute of Genetic Diseases, Imagine. Paris, France., Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Graf E; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Heidler J; Functional Proteomics, Medical School, Goethe University, Frankfurt am Main, Germany., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Heon E; The Hospital for Sick Children, Department of Ophthalmology and Vision Sciences, The University of Toronto, Toronto, Canada., Itkis YS; Research Centre for Medical Genetics, Moscow, Russia., Javasky E; Genomics Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel., Kaplan J; Laboratory Genetics in Ophthalmology (LGO), INSERM UMR1163 - Institute of Genetic Diseases, Imagine. Paris, France., Kopajtich R; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Kornblum C; Department of Neurology, University Hospital Bonn, Bonn, Germany., Kovacs-Nagy R; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Department of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, Budapest, Hungary., Krylova TD; Research Centre for Medical Genetics, Moscow, Russia., Kunz WS; Department of Experimental Epileptology and Cognition Research, University of Bonn, Bonn, Germany., La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Ludwig C; Bavarian Center for Biomolecular Mass Spectrometry (BayBioMS), Technische Universität München, Munich, Germany., Malacarne PF; Institute for Cardiovascular Physiology, Goethe-University Frankfurt, Frankfurt am Main, Germany., Maresca A; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Mayr JA; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, Salzburg, Austria., Meisterknecht J; Functional Proteomics, Medical School, Goethe University, Frankfurt am Main, Germany., Nevinitsyna TA; Federal State Budgetary Institution of Science 'Research Institute of Eye Diseases,' Moscow, Russia., Palombo F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Pode-Shakked B; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Institute for Rare Diseases.; Talpiot Medical Leadership Program, and., Shmelkova MS; Federal State Budgetary Institution of Science 'Research Institute of Eye Diseases,' Moscow, Russia., Strom TM; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany., Tagliavini F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Tzadok M; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel., van der Ven AT; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Vignal-Clermont C; Ophthalmology Department, Centre National d'Ophtalmologie des Qinze-Vingts, Paris, France., Wagner M; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Zakharova EY; Research Centre for Medical Genetics, Moscow, Russia., Zhorzholadze NV; Federal State Budgetary Institution of Science 'Research Institute of Eye Diseases,' Moscow, Russia., Rozet JM; Laboratory Genetics in Ophthalmology (LGO), INSERM UMR1163 - Institute of Genetic Diseases, Imagine. Paris, France., Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Tsygankova PG; Research Centre for Medical Genetics, Moscow, Russia., Klopstock T; Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster of Systems Neurology (SyNergy), Munich, Germany., Wittig I; Functional Proteomics, Medical School, Goethe University, Frankfurt am Main, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site RheinMain, Frankfurt, Germany., Prokisch H; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2021 Mar 15; Vol. 131 (6).