المؤلفون: Genin EC; Université Côte d'Azur (UniCa), Institute for Research on Cancer and Aging (IRCAN), UMR CNRS 7284/INSERM U1081, Centre Hospitalier Universitaire (CHU) de Nice, Nice, France., di Borgo PP; Université Côte d'Azur (UniCa), Institut de Pharmacologie Moléculaire et Cellulaire (IPMC), CNRS UMR7275, Inserm, Sophia Antipolis, Valbonne, France., Lorivel T; Université Côte d'Azur (UniCa), Institut de Pharmacologie Moléculaire et Cellulaire (IPMC), CNRS UMR7275, Inserm, Sophia Antipolis, Valbonne, France., Hugues S; E-Phy-Science, Bioparc, 2400 Route des Colles, Sophia Antipolis 06410, Biot, France., Farinelli M; E-Phy-Science, Bioparc, 2400 Route des Colles, Sophia Antipolis 06410, Biot, France., Mauri-Crouzet A; Université Côte d'Azur (UniCa), Institute for Research on Cancer and Aging (IRCAN), UMR CNRS 7284/INSERM U1081, Centre Hospitalier Universitaire (CHU) de Nice, Nice, France., Lespinasse F; Université Côte d'Azur (UniCa), Institute for Research on Cancer and Aging (IRCAN), UMR CNRS 7284/INSERM U1081, Centre Hospitalier Universitaire (CHU) de Nice, Nice, France., Godin L; Université Côte d'Azur (UniCa), Institut de Pharmacologie Moléculaire et Cellulaire (IPMC), CNRS UMR7275, Inserm, Sophia Antipolis, Valbonne, France., Paquis-Flucklinger V; Université Côte d'Azur (UniCa), Institute for Research on Cancer and Aging (IRCAN), UMR CNRS 7284/INSERM U1081, Centre Hospitalier Universitaire (CHU) de Nice, Nice, France. Electronic address: paquis@unice.fr., Petit-Paitel A; Université Côte d'Azur (UniCa), Institut de Pharmacologie Moléculaire et Cellulaire (IPMC), CNRS UMR7275, Inserm, Sophia Antipolis, Valbonne, France. Electronic address: paitel@ipmc.cnrs.fr.

المصدر: Neurobiology of disease [Neurobiol Dis] 2024 Jun 01; Vol. 195, pp. 106498. Date of Electronic Publication: 2024 Apr 05.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE

مواضيع طبية MeSH: Frontotemporal Dementia*/pathology , Frontotemporal Dementia*/genetics , Disease Models, Animal* , Mitochondrial Proteins*/genetics , Mitochondrial Proteins*/metabolism, Animals ; Mice ; Mice, Transgenic ; Behavior, Animal/physiology ; Male ; Long-Term Potentiation/physiology ; Mice, Inbred C57BL ; Hippocampus/pathology ; Hippocampus/metabolism

المؤلفون: Genin EC; Institute for Research on Cancer and Aging, Nice (IRCAN), Université Côte d'Azur, Inserm U1081, CNRS UMR7284, Centre Hospitalier Universitaire (CHU) de Nice, 06200 Nice, France., Abou-Ali M; Institute for Research on Cancer and Aging, Nice (IRCAN), Université Côte d'Azur, Inserm U1081, CNRS UMR7284, Centre Hospitalier Universitaire (CHU) de Nice, 06200 Nice, France., Paquis-Flucklinger V; Institute for Research on Cancer and Aging, Nice (IRCAN), Université Côte d'Azur, Inserm U1081, CNRS UMR7284, Centre Hospitalier Universitaire (CHU) de Nice, 06200 Nice, France.

المصدر: Genes [Genes (Basel)] 2023 Oct 24; Vol. 14 (11). Date of Electronic Publication: 2023 Oct 24.

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis*/pathology, Humans ; Mitochondria/metabolism ; Motor Neurons/metabolism ; Cell Death/genetics ; Mitochondrial Proteins/genetics ; Mitochondrial Proteins/metabolism

المؤلفون: Genin EC; Mitochondria, disease and aging Group, Université Côte d'Azur, Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice, France., Bannwarth S; Mitochondria, disease and aging Group, Université Côte d'Azur, Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice, France., Ropert B; Mitochondria, disease and aging Group, Université Côte d'Azur, Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice, France., Lespinasse F; Mitochondria, disease and aging Group, Université Côte d'Azur, Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice, France., Mauri-Crouzet A; Mitochondria, disease and aging Group, Université Côte d'Azur, Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice, France., Augé G; Mitochondria, disease and aging Group, Université Côte d'Azur, Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice, France., Fragaki K; Mitochondria, disease and aging Group, Université Côte d'Azur, Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice, France., Cochaud C; Mitochondria, disease and aging Group, Université Côte d'Azur, Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice, France., Donnarumma E; Mitochondrial Biology Group, Institut Pasteur, CNRS UMR 3691, Paris, France., Lacas-Gervais S; Centre Commun de Microscopie Appliquée, Université Côte d'Azur, Nice, France., Wai T; Mitochondrial Biology Group, Institut Pasteur, CNRS UMR 3691, Paris, France., Paquis-Flucklinger V; Mitochondria, disease and aging Group, Université Côte d'Azur, Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice, France.

المصدر: Brain : a journal of neurology [Brain] 2022 Oct 21; Vol. 145 (10), pp. 3415-3430.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis*/genetics , Amyotrophic Lateral Sclerosis*/metabolism , Frontotemporal Dementia*/genetics , Mitochondrial Proteins*/genetics , Mitochondrial Proteins*/metabolism , Membrane Proteins*/genetics , Membrane Proteins*/metabolism, Animals ; Mice ; Mitochondria/metabolism ; Motor Neurons/metabolism ; Prohibitins ; Transcription Factors/genetics ; Humans

المؤلفون: Genin EC; Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France., Madji Hounoum B; Inserm U1065, C3M, Université Côte d'Azur, Nice, France., Bannwarth S; Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France., Fragaki K; Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France., Lacas-Gervais S; Centre Commun de Microscopie Appliquée, Université Côte d'Azur, Nice, France., Mauri-Crouzet A; Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France., Lespinasse F; Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France., Neveu J; Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France., Ropert B; Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France., Augé G; Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France., Cochaud C; Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France., Lefebvre-Omar C; Institut du Cerveau et de la Moelle Epinière, ICM, Inserm, U1127, CNRS UMR7225, Sorbonne Universités, 75013, Paris, France., Bigou S; Institut du Cerveau et de la Moelle Epinière, ICM, Inserm, U1127, CNRS UMR7225, Sorbonne Universités, 75013, Paris, France., Chiot A; Institut du Cerveau et de la Moelle Epinière, ICM, Inserm, U1127, CNRS UMR7225, Sorbonne Universités, 75013, Paris, France., Mochel F; Institut du Cerveau et de la Moelle Epinière, ICM, Inserm, U1127, CNRS UMR7225, Sorbonne Universités, 75013, Paris, France.; Department of Genetics and Reference Centre for Adult Neurometabolic Diseases, AP-HP, La Pitié-Salpêtriere University Hospital, Paris, France., Boillée S; Institut du Cerveau et de la Moelle Epinière, ICM, Inserm, U1127, CNRS UMR7225, Sorbonne Universités, 75013, Paris, France., Lobsiger CS; Institut du Cerveau et de la Moelle Epinière, ICM, Inserm, U1127, CNRS UMR7225, Sorbonne Universités, 75013, Paris, France., Bohl D; Institut du Cerveau et de la Moelle Epinière, ICM, Inserm, U1127, CNRS UMR7225, Sorbonne Universités, 75013, Paris, France., Ricci JE; Inserm U1065, C3M, Université Côte d'Azur, Nice, France., Paquis-Flucklinger V; Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Medicine School, Université Côte d'Azur, 28 av de Valombrose, 06107, Nice Cedex 2, France. paquis@unice.fr.

المصدر: Acta neuropathologica [Acta Neuropathol] 2019 Jul; Vol. 138 (1), pp. 123-145. Date of Electronic Publication: 2019 Mar 14.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis/*metabolism , Frontotemporal Dementia/*metabolism , Mitochondria/*pathology , Motor Neurons/*metabolism , Neuromuscular Junction/*metabolism, Amyotrophic Lateral Sclerosis/genetics ; Animals ; Cell Death/genetics ; DNA-Binding Proteins/metabolism ; Frontotemporal Dementia/genetics ; Mice, Transgenic ; Mitochondrial Proteins/metabolism ; Nerve Degeneration/genetics ; Nerve Degeneration/pathology ; Phenotype

SCR Disease Name: Frontotemporal Dementia With Motor Neuron Disease

المؤلفون: Genin EC; Université Côte d'Azur, Inserm, CNRS, IRCAN, CHU de Nice, France., Bannwarth S; Université Côte d'Azur, Inserm, CNRS, IRCAN, CHU de Nice, France., Lespinasse F; Université Côte d'Azur, Inserm, CNRS, IRCAN, CHU de Nice, France., Ortega-Vila B; Research Health Institute of Balearic Islands (IdISB)-Research Unit, Son Espases, University Hospital, Spain., Fragaki K; Université Côte d'Azur, Inserm, CNRS, IRCAN, CHU de Nice, France., Itoh K; Department of Cell Biology, Johns Hopkins University Scholl of Medicine, Baltimore, MD, USA., Villa E; Université Côte d'Azur, Inserm, C3M, France., Lacas-Gervais S; Université Côte d'Azur, Centre Commun de Microscopie Appliquée, France., Jokela M; Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland; Department of Clinical Neurosciences, Turku University Hospital, University of Turku, Turku, Finland., Auranen M; Clinical Neurosciences, Neurology, University of Helsinki, Helsinki University Hospital, Helsinki, Finland; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland., Ylikallio E; Clinical Neurosciences, Neurology, University of Helsinki, Helsinki University Hospital, Helsinki, Finland; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland., Mauri-Crouzet A; Université Côte d'Azur, Inserm, CNRS, IRCAN, CHU de Nice, France., Tyynismaa H; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland., Vihola A; Folkhälsan Institute of Genetics, Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland., Augé G; Université Côte d'Azur, Inserm, CNRS, IRCAN, CHU de Nice, France., Cochaud C; Université Côte d'Azur, Inserm, CNRS, IRCAN, CHU de Nice, France., Sesaki H; Department of Cell Biology, Johns Hopkins University Scholl of Medicine, Baltimore, MD, USA., Ricci JE; Université Côte d'Azur, Inserm, C3M, France., Udd B; Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland; Folkhälsan Institute of Genetics, Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland., Vives-Bauza C; Research Health Institute of Balearic Islands (IdISB)-Research Unit, Son Espases, University Hospital, Spain., Paquis-Flucklinger V; Université Côte d'Azur, Inserm, CNRS, IRCAN, CHU de Nice, France. Electronic address: paquis@hermes.unice.fr.

المصدر: Neurobiology of disease [Neurobiol Dis] 2018 Nov; Vol. 119, pp. 159-171. Date of Electronic Publication: 2018 Aug 06.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis/*genetics , Amyotrophic Lateral Sclerosis/*pathology , DNA-Binding Proteins/*genetics , Frontotemporal Dementia/*genetics , Frontotemporal Dementia/*pathology , Mitochondria/*genetics , Mitochondria/*pathology , Mitochondrial Proteins/*genetics, Adult ; DNA-Binding Proteins/analysis ; Female ; HEK293 Cells ; HeLa Cells ; Humans ; Male ; Membrane Proteins/analysis ; Membrane Proteins/genetics ; Middle Aged ; Mitochondria/ultrastructure ; Mitochondrial Diseases/genetics ; Mitochondrial Diseases/pathology ; Mitochondrial Proteins/analysis ; Mutation/genetics ; Saccharomyces cerevisiae Proteins/analysis ; Saccharomyces cerevisiae Proteins/genetics ; Severity of Illness Index

SCR Disease Name: Frontotemporal Dementia With Motor Neuron Disease

المؤلفون: Caron N; Laboratory of Developmental Neurobiology, GIGA-Neurosciences, Quartier Hôpital, University of Liège, Avenue Hippocrate 15, B36 +1, 4000, Liège, Belgium., Genin EC; Laboratory of Developmental Neurobiology, GIGA-Neurosciences, Quartier Hôpital, University of Liège, Avenue Hippocrate 15, B36 +1, 4000, Liège, Belgium., Marlier Q; Laboratory of Developmental Neurobiology, GIGA-Neurosciences, Quartier Hôpital, University of Liège, Avenue Hippocrate 15, B36 +1, 4000, Liège, Belgium., Verteneuil S; Laboratory of Developmental Neurobiology, GIGA-Neurosciences, Quartier Hôpital, University of Liège, Avenue Hippocrate 15, B36 +1, 4000, Liège, Belgium., Beukelaers P; Laboratory of Developmental Neurobiology, GIGA-Neurosciences, Quartier Hôpital, University of Liège, Avenue Hippocrate 15, B36 +1, 4000, Liège, Belgium., Morel L; Department of Pathology, Immunology, and Laboratory Medicine, University of Florida, Gainesville, FL, USA., Hu MG; Molecular Oncology Research Institute, Tufts Medical Center, 75 Kneeland Street, Boston, MA, USA., Hinds PW; Molecular Oncology Research Institute, Tufts Medical Center, 75 Kneeland Street, Boston, MA, USA.; Department of Developmental, Molecular, and Chemical Biology, Tufts University School of Medicine, Boston, MA, USA., Nguyen L; Molecular Regulation of Neurogenesis, GIGA-Neurosciences, University of Liège, Liège, Belgium., Vandenbosch R; Laboratory of Developmental Neurobiology, GIGA-Neurosciences, Quartier Hôpital, University of Liège, Avenue Hippocrate 15, B36 +1, 4000, Liège, Belgium., Malgrange B; Laboratory of Developmental Neurobiology, GIGA-Neurosciences, Quartier Hôpital, University of Liège, Avenue Hippocrate 15, B36 +1, 4000, Liège, Belgium. bmalgrange@ulg.ac.be.

المصدر: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2018 Oct; Vol. 75 (20), pp. 3817-3827. Date of Electronic Publication: 2018 May 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE

مواضيع طبية MeSH: Cell Proliferation*, Cyclin-Dependent Kinase 6/*metabolism , Cyclin-Dependent Kinase Inhibitor p27/*metabolism, Animals ; Cyclin-Dependent Kinase 2/metabolism ; Cyclin-Dependent Kinase 6/genetics ; Cyclin-Dependent Kinase Inhibitor p18/deficiency ; Cyclin-Dependent Kinase Inhibitor p18/genetics ; Cyclin-Dependent Kinase Inhibitor p27/genetics ; Dentate Gyrus/metabolism ; Dentate Gyrus/pathology ; Hippocampus/cytology ; Hippocampus/metabolism ; Hippocampus/pathology ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Mutagenesis, Site-Directed ; Neural Stem Cells/cytology ; Neural Stem Cells/metabolism ; Neurogenesis

المؤلفون: Ait-El-Mkadem S; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, 06202 Nice, France; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France., Dayem-Quere M; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, 06202 Nice, France; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France., Gusic M; Institute of Human Genetics, Technical University of Munich, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Chaussenot A; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, 06202 Nice, France; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France., Bannwarth S; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, 06202 Nice, France; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France., François B; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France., Genin EC; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France., Fragaki K; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, 06202 Nice, France; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France., Volker-Touw CLM; Department of Genetics, University Medical Center Utrecht, 3584 Utrecht, the Netherlands., Vasnier C; Institute for Integrative Biology of the Cell (I2BC), Commissariat à l'Énergie Atomique et aux Énergies Alternatives, CNRS, Université Paris-Sud, Université Paris-Saclay, 91198 Gif-sur-Yvette Cedex, France., Serre V; CNRS UMR 7592, Jacques Monod Institute, Paris Diderot University, 75205 Paris, France., van Gassen KLI; Department of Genetics, University Medical Center Utrecht, 3584 Utrecht, the Netherlands., Lespinasse F; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France., Richter S; Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany., Eisenhofer G; Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany., Rouzier C; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, 06202 Nice, France; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France., Mochel F; INSERM U1127, CNRS UMR 7225, Sorbonne Universités, l'Université Pierre et Marie Curie (Paris 06) UMR S1127, Institut du Cerveau et de la Moelle Épinière Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France., De Saint-Martin A; Service de Neurologie Pédiatrique, Centre de Référence pour les Épilepsies Rares, Centre Hospitalier Universitaire de Strasbourg, 67098 Strasbourg, France., Abi Warde MT; Service de Neurologie Pédiatrique, Centre de Référence pour les Épilepsies Rares, Centre Hospitalier Universitaire de Strasbourg, 67098 Strasbourg, France., de Sain-van der Velde MGM; Laboratory of Metabolic Diseases, University Medical Center Utrecht, 3584 Utrecht, the Netherlands., Jans JJM; Laboratory of Metabolic Diseases, University Medical Center Utrecht, 3584 Utrecht, the Netherlands., Amiel J; Department of Genetics, Hôpital Necker-Enfants Malades, 75015 Paris, France., Avsec Z; Department of Informatics, Technical University of Munich, 85748 Garching, Germany., Mertes C; Department of Informatics, Technical University of Munich, 85748 Garching, Germany., Haack TB; Institute of Human Genetics, Technical University of Munich, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Strom T; Institute of Human Genetics, Technical University of Munich, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Meitinger T; Institute of Human Genetics, Technical University of Munich, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, NE2 4HH Newcastle upon Tyne, UK., Gagneur J; Department of Informatics, Technical University of Munich, 85748 Garching, Germany., van Hasselt PM; Department of Metabolic Diseases, University Medical Center Utrecht, 3584 Utrecht, the Netherlands., Rötig A; INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France., Delahodde A; Institute for Integrative Biology of the Cell (I2BC), Commissariat à l'Énergie Atomique et aux Énergies Alternatives, CNRS, Université Paris-Sud, Université Paris-Saclay, 91198 Gif-sur-Yvette Cedex, France., Prokisch H; Institute of Human Genetics, Technical University of Munich, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Fuchs SA; Laboratory of Metabolic Diseases, University Medical Center Utrecht, 3584 Utrecht, the Netherlands., Paquis-Flucklinger V; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, 06202 Nice, France; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France. Electronic address: paquis@hermes.unice.fr.

المصدر: American journal of human genetics [Am J Hum Genet] 2017 Jan 05; Vol. 100 (1), pp. 151-159. Date of Electronic Publication: 2016 Dec 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Citric Acid Cycle*/genetics , Mutation*, Brain Diseases/*genetics , Malate Dehydrogenase/*genetics, Age of Onset ; Alleles ; Amino Acid Sequence ; Child ; Child, Preschool ; Fibroblasts/enzymology ; Fibroblasts/metabolism ; Fumarates/metabolism ; Genetic Complementation Test ; Humans ; Infant ; Infant, Newborn ; Malate Dehydrogenase/chemistry ; Malate Dehydrogenase/metabolism ; Malates/metabolism ; Male ; Metabolomics ; Models, Molecular

المؤلفون: Bannwarth S; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Ait-El-Mkadem S; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Chaussenot A; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Genin EC; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France., Lacas-Gervais S; 3 Joint Centre for Applied Electron Microscopy, Nice Sophia-Antipolis University, France., Fragaki K; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Berg-Alonso L; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France., Kageyama Y; 4 Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Serre V; 5 UMR7592 CNRS, Jacques Monod Institute, Paris Diderot University, France., Moore D; 6 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK., Verschueren A; 7 Department of Neurology, Timone Hospital, Marseille Teaching Hospital, France., Rouzier C; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Le Ber I; 8 Sorbonne Université, UPMC Univ Paris 06, UM75, Inserm U1127, CNRS UMR7225, Institut du Cerveau et de la Moelle épinière (ICM), F-75013 Paris, France 9 National Reference Centre on Rare Dementias, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Augé G; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Cochaud C; 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France., Lespinasse F; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France., N'Guyen K; 10 Department of Medical Genetics, Timone Hospital, Marseille Teaching Hospital, France., de Septenville A; 8 Sorbonne Université, UPMC Univ Paris 06, UM75, Inserm U1127, CNRS UMR7225, Institut du Cerveau et de la Moelle épinière (ICM), F-75013 Paris, France., Brice A; 8 Sorbonne Université, UPMC Univ Paris 06, UM75, Inserm U1127, CNRS UMR7225, Institut du Cerveau et de la Moelle épinière (ICM), F-75013 Paris, France., Yu-Wai-Man P; 6 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK 11 Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK., Sesaki H; 4 Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Pouget J; 7 Department of Neurology, Timone Hospital, Marseille Teaching Hospital, France., Paquis-Flucklinger V; 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France paquis@hermes.unice.fr.

المصدر: Brain : a journal of neurology [Brain] 2016 Apr; Vol. 139 (Pt 4), pp. e22. Date of Electronic Publication: 2015 Dec 30.

نوع المنشور: Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Comment

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis/*etiology , DNA, Mitochondrial/*genetics , Frontotemporal Dementia/*etiology , Mitochondria/*pathology , Mitochondrial Diseases/*complications , Mitochondrial Proteins/*genetics, Female ; Humans ; Male

المؤلفون: Genin EC; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice Cedex 2, France., Plutino M; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice Cedex 2, France., Bannwarth S; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice Cedex 2, France Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, Nice Cedex 2, France., Villa E; INSERM U1065, Centre Méditerranéen de Médecine Moléculaire (C3M), équipe 'contrôle métabolique des morts cellulaires', Nice Sophia-Antipolis University, Nice Cedex 2, France., Cisneros-Barroso E; Research Health Institute of Palma (IdISPa), Research Unit, Son Espases University Hospital, Palma de Mallorca, Spain., Roy M; Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Ortega-Vila B; Research Health Institute of Palma (IdISPa), Research Unit, Son Espases University Hospital, Palma de Mallorca, Spain., Fragaki K; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice Cedex 2, France Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, Nice Cedex 2, France., Lespinasse F; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice Cedex 2, France., Pinero-Martos E; Research Health Institute of Palma (IdISPa), Research Unit, Son Espases University Hospital, Palma de Mallorca, Spain., Augé G; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice Cedex 2, France Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, Nice Cedex 2, France., Moore D; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, International Centre for Life Newcastle University, Newcastle upon Tyne, UK Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, UK., Burté F; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, International Centre for Life Newcastle University, Newcastle upon Tyne, UK Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, UK., Lacas-Gervais S; Joint Center for Applied Electron Microscopy, Nice Sophia-Antipolis University, Nice Cedex 2, France., Kageyama Y; Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Itoh K; Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Yu-Wai-Man P; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, International Centre for Life Newcastle University, Newcastle upon Tyne, UK Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, UK., Sesaki H; Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Ricci JE; INSERM U1065, Centre Méditerranéen de Médecine Moléculaire (C3M), équipe 'contrôle métabolique des morts cellulaires', Nice Sophia-Antipolis University, Nice Cedex 2, France., Vives-Bauza C; Research Health Institute of Palma (IdISPa), Research Unit, Son Espases University Hospital, Palma de Mallorca, Spain., Paquis-Flucklinger V; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice Cedex 2, France Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, Nice Cedex 2, France paquis@hermes.unice.fr.

المصدر: EMBO molecular medicine [EMBO Mol Med] 2016 Jan 01; Vol. 8 (1), pp. 58-72.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101487380 Publication Model: Print Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

مواضيع طبية MeSH: Genome, Mitochondrial*, Apoptosis/*genetics , Mitochondria/*genetics , Mitochondrial Proteins/*genetics, Alleles ; Cell Line ; Cytochromes c/metabolism ; DNA Repair/drug effects ; DNA, Mitochondrial/analysis ; DNA, Mitochondrial/metabolism ; HeLa Cells ; Humans ; Hydrogen Peroxide/toxicity ; Lysosomes/metabolism ; Membrane Potential, Mitochondrial ; Mitochondria/metabolism ; Mitochondrial Diseases/genetics ; Mitochondrial Diseases/pathology ; Mitochondrial Proteins/metabolism ; Mutation ; Oxidative Stress/drug effects ; Real-Time Polymerase Chain Reaction

المؤلفون: Morel G; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France., Rouzier C; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France., Chaussenot A; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France., Ait-El-Mkadem S; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France., Bannwarth S; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France., Genin EC; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France., Augé G; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France., Chabrol B; Department of Neuropediatrics, Timone Hospital, Marseille Teaching Hospital, Marseille, France., Pouget J; Department of Neurology, Timone Hospital, Marseille Teaching Hospital, Marseille, France., Soriani MH; National Center for Neuromuscular Disorders, Nice Teaching Hospital, Nice, France., Sacconi S; National Center for Neuromuscular Disorders, Nice Teaching Hospital, Nice, France., Paquis-Flucklinger V; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.; IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France.

المصدر: Annals of neurology [Ann Neurol] 2015 Nov; Vol. 78 (5), pp. 831. Date of Electronic Publication: 2015 Aug 31.

نوع المنشور: Letter; Research Support, Non-U.S. Gov't; Comment

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease/*genetics , Mitochondrial Proteins/*genetics , Muscular Atrophy, Spinal/*genetics , Mutation/*genetics, Female ; Humans ; Male