5 results on '"Robert Rubinsztajn"'
Number of results to display per page
Search Results
2. Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
- Author
-
Sahar Elouej, Karim Harhouri, Morgane Le Mao, Genevieve Baujat, Sheela Nampoothiri, Hϋlya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean-François Deleuze, Agnes Rötig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande-Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, and Annachiara De Sandre-Giovannoli
- Subjects
Science - Abstract
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
- Published
- 2020
- Full Text
- View/download PDF
3. Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
- Author
-
Christian Kubisch, Robert Rubinsztajn, Arianne Llamos Paneque, Philippe Manivet, Catarina Pereira, Laila Selim, Nathalie Escande-Beillard, Abigail Loh, Peter Bauer, Catherine Bartoli, Song-Hua Lee, Morgane Le Mao, Hϋlya Kayserili, Coraline Airault, Nihal M. Al Menabawy, Lisa Martino, Yosef Gruenbaum, Guy Lenaers, Antoine Muchir, Agnès Rötig, Annachiara De Sandre-Giovannoli, Nicolas Lévy, Sahar Elouej, Sheela Nampoothiri, Chayki Charar, Jean-François Deleuze, Karim Harhouri, Bruno Reversade, Davor Lessel, Geneviève Baujat, ACS - Heart failure & arrhythmias, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Amrita Institute of Medical Sciences and Research Center, Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Koç University, Cairo University Children Hospital, Medical Genetics Service Specialties Hospital, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Hôpital Necker, The Hebrew University of Jerusalem (HUJ), Centre National de Recherche en Génomique Humaine (CNRGH), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), CENTOGENE AG, Institute of Medical Biology A*STAR, Sorbonne Université (SU), CeleScreen SAS, Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de ressources biologiques Tissus ADN Cellules [Hôpital de la Timone - APHM] (CRB TAC), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), ANR-11-IDEX-0001,Amidex,INITIATIVE D'EXCELLENCE AIX MARSEILLE UNIVERSITE(2011), ANR-10-LABX-0013,GENMED,Medical Genomics(2010), ANR-10-INBS-0004,France-BioImaging,Développment d'une infrastructure française distribuée coordonnée(2010), LENAERS, Guy, INITIATIVE D'EXCELLENCE AIX MARSEILLE UNIVERSITE - - Amidex2011 - ANR-11-IDEX-0001 - IDEX - VALID, Medical Genomics - - GENMED2010 - ANR-10-LABX-0013 - LABX - VALID, Développment d'une infrastructure française distribuée coordonnée - - France-BioImaging2010 - ANR-10-INBS-0004 - INBS - VALID, Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Escande-Beillard, Nathalie, Reversade, Bruno, Elouej,Sahar, Harhouri, Karim, Le Mao, Morgane, Baujat, Genevieve, Nampoothiri, Sheela, Menabawy, Nihal Al, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn,Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-François, Rötig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara, and School of Medicine
- Subjects
0301 basic medicine ,Premature aging ,Senescence ,Pathology ,medicine.medical_specialty ,endocrine system ,animal structures ,Science ,[SDV]Life Sciences [q-bio] ,General Physics and Astronomy ,Apoptosis ,General Biochemistry, Genetics and Molecular Biology ,Progeroid syndromes ,Article ,Nuclear envelope ,LMNA ,03 medical and health sciences ,0302 clinical medicine ,Mitophagy ,Genetics research ,medicine ,lcsh:Science ,Multidisciplinary ,business.industry ,Glomerulosclerosis ,General Chemistry ,Energy metabolism ,medicine.disease ,3. Good health ,Mandibuloacral dysplasia ,[SDV] Life Sciences [q-bio] ,030104 developmental biology ,Mitochondrial Membrane Protein ,Next-generation sequencing ,Medicine ,lcsh:Q ,business ,030217 neurology & neurosurgery - Abstract
Mandibuloacral dysplasia syndromes are mainly due to recessive LMNA or ZMPSTE24 mutations, with cardinal nuclear morphological abnormalities and dysfunction. We report five homozygous null mutations in MTX2, encoding Metaxin-2 (MTX2), an outer mitochondrial membrane protein, in patients presenting with a severe laminopathy-like mandibuloacral dysplasia characterized by growth retardation, bone resorption, arterial calcification, renal glomerulosclerosis and severe hypertension. Loss of MTX2 in patients’ primary fibroblasts leads to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. Furthermore, patients’ fibroblasts are resistant to induced apoptosis, leading to increased cell senescence and mitophagy and reduced proliferation. Interestingly, secondary nuclear morphological defects are observed in both MTX2-mutant fibroblasts and mtx-2-depleted C. elegans. We thus report the identification of a severe premature aging syndrome revealing an unsuspected link between mitochondrial composition and function and nuclear morphology, establishing a pathophysiological link with premature aging laminopathies and likely explaining common clinical features., Association Française contre les Myopathies (AFM); Deutsche Forschungsgemeinschaft; GENMED Laboratory of Excellence on Medical Genomics, Agence Nationale de la Recherche; Institut National de la Santé et de la Recherche Médicale (INSERM); Aix-Marseille University (AMU) by the RAREMED Amidex Project
- Published
- 2020
- Full Text
- View/download PDF
4. Paediatric long term continuous positive airway pressure and noninvasive ventilation in France: A cross-sectional study
- Author
-
Stéphanie Bui, Laurence Le Clainche, Plamen Bokov, Laurianne Coutier, Julie Mazenq, Isabelle Pin, Sonia Khirani, Lisa Giovannini-Chami, Iulia Ioan, Emmanuelle Fleurence, B. Mbieleu, Stefan Matecki, Anne Pervillé, Melisande Baravalle-Einaudi, Guillaume Aubertin, Bruno Massenavette, Elodie Sigur, Robert Rubinsztajn, Agnès Fina, Marie Emilie Lampin, Alexandra Masson, Clemence Mordacq, Priscille Bierme, Jessica Taytard, Eglantine Hullo, Alexandra Binoche, Audrey Breining, Morgane Ollivier, Alessandro Amaddeo, Nathalie Stremler, Michael Pomedio, Rachel Heyman, Mikael Jokic, Geraldine Labouret, Arnaud Becourt, Marc Lubrano Lavadera, Jean Bergounioux, Pauline Hangard, Elsa Gachelin, Brigitte Fauroux, Marie Catherine Renoux, François Galode, Audrey Barzic, Guillaume Labbé, Cyril Schweitzer, Stephane Debelleix, Johan Moreau, Aline Genevois, Caroline Perisson, Celine Menetrey, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sommeil-Vigilance-Fatigue et Santé Publique (VIFASOM (URP_7330)), Institut de Recherche Biomédicale des Armées (IRBA)-Université de Paris (UP), Hospices Civils de Lyon (HCL), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Neurophysiologie Respiratoire Expérimentale et Clinique, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Développement, Adaptation et Handicap. Régulations cardio-respiratoires et de la motricité (DevAH), Université de Lorraine (UL), Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hôpital Raymond Poincaré [AP-HP], Hôpital des Enfants, CHU Toulouse [Toulouse], CHU Amiens-Picardie, hôpital couple-enfant [CHU Grenoble Alpes], Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, CIC Bordeaux, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hôpital Charles Nicolle [Rouen], Hôpital Pontchaillou, Centre Hospitalier Universitaire de Reims (CHU Reims), Hôpital Robert Debré, Hôpital de la Mère et de l'Enfant, CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre hospitalier Félix-Guyon [Saint-Denis, La Réunion], CHU Sud Saint Pierre [Ile de la Réunion], Hopital d'enfants, Hôpitaux Pédiatriques de Nice Lenval (CHU-Lenval), Centre Hospitalier Universitaire de Nice (CHU Nice), Etablissement de santé pour enfants et adolescents de la région Nantaise (ESEAN), Hôpital Morvan - CHRU de Brest (CHU - BREST ), CHU Strasbourg, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand, Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
- Subjects
Male ,Pulmonary and Respiratory Medicine ,Pediatrics ,medicine.medical_specialty ,Time Factors ,Neuromuscular disease ,Adolescent ,Bone disease ,Cross-sectional study ,[SDV]Life Sciences [q-bio] ,medicine.medical_treatment ,Continuous positive airway pressure ,Home care ,Young Adult ,03 medical and health sciences ,Sleep Apnea Syndromes ,0302 clinical medicine ,Surveys and Questionnaires ,medicine ,Humans ,030212 general & internal medicine ,Child ,Sleep-disordered breathing ,medicine.diagnostic_test ,business.industry ,Age Factors ,Infant ,Cardiorespiratory fitness ,Airway obstruction ,medicine.disease ,Obstructive sleep apnea ,respiratory tract diseases ,3. Good health ,Airway Obstruction ,Pulse oximetry ,Cross-Sectional Studies ,030228 respiratory system ,Child, Preschool ,Patient Compliance ,Female ,France ,business ,Noninvasive ventilation - Abstract
International audience; Objective: To describe the characteristics of children treated with long term continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in France.Design: Cross-sectional national survey.Setting: Paediatric CPAP/NIV teams of 28 tertiary university hospitals in France.Patients: Children aged
- Published
- 2021
- Full Text
- View/download PDF
5. Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
- Author
-
Antoine Muchir, Song-Hua Lee, Morgane Le Mao, Agnès Rötig, Arianne Llamos Paneque, Lisa Martino, Yosef Gruenbaum, Sheela Nampoothiri, Philippe Manivet, Nathalie Escande-Beillard, Coraline Airault, Chayki Charar, Robert Rubinsztajn, Christian Kubisch, Abigail Loh, Guy Lenaers, Jean-François Deleuze, Nihal M. Al Menabawy, Laila Selim, Hϋlya Kayserili, Annachiara De Sandre-Giovannoli, Peter Bauer, Catherine Bartoli, Sahar Elouej, Catarina Pereira, Nicolas Lévy, Karim Harhouri, Bruno Reversade, Davor Lessel, and Geneviève Baujat
- Subjects
Male ,Pathology ,medicine.medical_specialty ,Genotype ,Lipodystrophy ,Science ,General Physics and Astronomy ,Down-Regulation ,Apoptosis ,Mandible ,Mitochondrial Membrane Transport Proteins ,General Biochemistry, Genetics and Molecular Biology ,Nuclear envelope ,Nuclear morphology ,Mitochondrial Proteins ,Genetics research ,Medicine ,Animals ,Humans ,Genetic Predisposition to Disease ,lcsh:Science ,Author Correction ,Caenorhabditis elegans ,Child ,Cell Proliferation ,Skin ,Multidisciplinary ,Acro-Osteolysis ,Whole Genome Sequencing ,business.industry ,Homozygote ,Membrane Proteins ,Metalloendopeptidases ,Aging, Premature ,General Chemistry ,Energy metabolism ,Fibroblasts ,medicine.disease ,Mitochondria ,Mandibuloacral dysplasia ,Phenotype ,Gene Expression Regulation ,Mutation ,Next-generation sequencing ,lcsh:Q ,Female ,business - Abstract
Mandibuloacral dysplasia syndromes are mainly due to recessive LMNA or ZMPSTE24 mutations, with cardinal nuclear morphological abnormalities and dysfunction. We report five homozygous null mutations in MTX2, encoding Metaxin-2 (MTX2), an outer mitochondrial membrane protein, in patients presenting with a severe laminopathy-like mandibuloacral dysplasia characterized by growth retardation, bone resorption, arterial calcification, renal glomerulosclerosis and severe hypertension. Loss of MTX2 in patients' primary fibroblasts leads to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. Furthermore, patients' fibroblasts are resistant to induced apoptosis, leading to increased cell senescence and mitophagy and reduced proliferation. Interestingly, secondary nuclear morphological defects are observed in both MTX2-mutant fibroblasts and mtx-2-depleted C. elegans. We thus report the identification of a severe premature aging syndrome revealing an unsuspected link between mitochondrial composition and function and nuclear morphology, establishing a pathophysiological link with premature aging laminopathies and likely explaining common clinical features.
- Published
- 2020
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.