MELAS syndrome causes glutamate and tricarboxylic acid cycle dysfunctions alleviated by ketone body treatment

Autor: Belal, Sophie, Goudenège, David, Bocca, Cinzia, Dumont, Florent, Chao de la Barca, Juan Manuel, Desquiret-Dumas, Valérie, Gueguen, Naïg, Geffroy, Guillaume, Benyahia, Rayane, Kane, Selma, Khiati, Salim, Bris, Céline, Aranyi, Tamas, Stockholm, Daniel, Inisan, Aurore, Renaud, Aurélie, Barth, Magalie, Simard, Gilles, Reynier, Pascal, Letournel, Franck, Lenaers, Guy, Bonneau, Dominique, Chevrollier, Arnaud, Procaccio, Vincent

Publikováno v: Biomedicines
Biomedicines, 2022, 10 (7), pp.1665. ⟨10.3390/biomedicines10071665⟩

International audience; (1) Background: The development of mitochondrial medicine has been severely impeded by a lack of effective therapies. (2) Methods: To better understand Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-like episodes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4047::6eb2343694f048e6fcfb65b319c88b94
https://hal.science/hal-03861087

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LETTERS TO THE EDITOR

Autor: COLM, GERHARD, BERKOWITZ, MONROE, HOYT, ELIZABETH E., WESTERFIELD, ALFRED, CLARKSON, RICHARD H., LONG, CAROLINE, RUGGIERI, JOSEPH, STONE, CHARLES, FONTANA, GEORGE, FRANKENTHAL, WILLIAM, KANE, SELMA, CRONIN, JOHN F., MOORE, BASIL J., KIRK, ROBERT

Publikováno v: Challenge, 1965 Nov 01. 14(2), 2-3.

Externí odkaz: https://www.jstor.org/stable/40718944

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Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.

Autor: Charif M; Université Angers, MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, SFR ICAT, Angers, France.; Genetics and Immuno-Cell Therapy Team, Mohammed First University, Oujda, Morocco., Gueguen N; Université Angers, MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, SFR ICAT, Angers, France.; Département de Biochimie et Génétique, CHU d'Angers, Angers, France., Ferré M; Université Angers, MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, SFR ICAT, Angers, France., Elkarhat Z; Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco., Khiati S; Université Angers, MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, SFR ICAT, Angers, France., LeMao M; Université Angers, MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, SFR ICAT, Angers, France., Chevrollier A; Université Angers, MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, SFR ICAT, Angers, France., Desquiret-Dumas V; Université Angers, MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, SFR ICAT, Angers, France.; Département de Biochimie et Génétique, CHU d'Angers, Angers, France., Goudenège D; Université Angers, MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, SFR ICAT, Angers, France.; Département de Biochimie et Génétique, CHU d'Angers, Angers, France., Bris C; Université Angers, MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, SFR ICAT, Angers, France.; Département de Biochimie et Génétique, CHU d'Angers, Angers, France., Kane S; Université Angers, MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, SFR ICAT, Angers, France., Alban J; Université Angers, MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, SFR ICAT, Angers, France., Chupin S; Département de Biochimie et Génétique, CHU d'Angers, Angers, France., Wetterwald C; Département de Biochimie et Génétique, CHU d'Angers, Angers, France., Caporali L; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Tagliavini F; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., LaMorgia C; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy., Carbonelli M; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Jurkute N; Moorfields Eye Hospital, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK.; Cambridge Eye Unit, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.; Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Barakat A; Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco., Gohier P; Université Angers, MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, SFR ICAT, Angers, France., Verny C; Université Angers, MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, SFR ICAT, Angers, France.; Centre de référence des Maladies Neurogénétiques, Département de Neurologie, CHU d'Angers, Angers, France., Barth M; Department of Pediatrics, Competence Center of Inherited Metabolic Disorders, Angers Hospital, Angers, France., Procaccio V; Université Angers, MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, SFR ICAT, Angers, France.; Département de Biochimie et Génétique, CHU d'Angers, Angers, France., Bonneau D; Université Angers, MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, SFR ICAT, Angers, France.; Département de Biochimie et Génétique, CHU d'Angers, Angers, France., Zanlonghi X; Eye Clinic, Sourdille Jules Verne, Nantes, France., Meunier I; National Center for Rare Diseases, Genetics of Sensory Diseases, University Hospital, Montpellier, France., Weisschuh N; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Schimpf-Linzenbold S; Praxis für Humangenetik, Tübingen, Germany., Tonagel F; Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Kellner U; Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, Germany.; RetinaScience, 53113 Bonn, Germany., Yu-Wai-Man P; Moorfields Eye Hospital, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK.; Cambridge Eye Unit, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.; Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Carelli V; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy., Wissinger B; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Amati-Bonneau P; Université Angers, MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, SFR ICAT, Angers, France.; Département de Biochimie et Génétique, CHU d'Angers, Angers, France., Reynier P; Université Angers, MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, SFR ICAT, Angers, France.; Département de Biochimie et Génétique, CHU d'Angers, Angers, France., Lenaers G; Université Angers, MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, SFR ICAT, Angers, France.

Publikováno v: Brain communications [Brain Commun] 2021 Apr 07; Vol. 3 (2), pp. fcab063. Date of Electronic Publication: 2021 Apr 07 (Print Publication: 2021).