Ana BUJ BELLO Integrare research unit, UMR_S951 Inserm, Genethon Biography Publications Institution JoVE Articles Ana BUJ BELLO Ana Buj Bello is research director at INSERM and head of the Neuromuscular Diseases and GeneTherapy team at Genethon, France. She received her degree in Medicine and Surgery from the University of Lleida, Spain, and a PhD in Neurosciences from the University of St Andrews, UK. She also obtained a diploma in Myology from the University of Pierre et Marie Curie, France. Having done a post-doctorate at the « Institut de Génétique et Biologie Moléculaire et Cellulaire » (IGBMC), France, she joined the INSERM in 2004 and has worked at Genethon since 2009. Her research activities focus on developing AAV-based gene therapies for neuromuscular disorders, in particular congenital myopathies, with a major interest in clinical translation. Her pioneering work on gene replacement therapy for myotubular myopathy has led to the initiation of a clinical trial in patients. Publications Genome Editing of Expanded CTG Repeats Within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice Molecular Therapy : the Journal of the American Society of Gene Therapy. 08, 2019 | Pubmed ID: 31253581 Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs Molecular Therapy : the Journal of the American Society of Gene Therapy. Apr, 2017 | Pubmed ID: 28237839 Charakterisierung neuromuskulärer Verbindungen bei Mäusen mittels kombinierter konfokaler und hochauflösender Mikroskopie Martina Marinello*1,2, Jérémie Cosette*1, Caroline Bogni1,2, Jérôme Denard1,2, Daniel Stockholm*1,3, Ana Buj-Bello*1,2 1Genethon, 91000, Evry, France, 2Université Paris-Saclay, Univ Evry, Inserm, Genethon, Integrare research unit UMR_S951, 91000, Evry, France, 3Ecole Pratique des Hautes Etudes, PSL Research University, 75014, Paris, France JoVE 63032 Neuroscience
Charakterisierung neuromuskulärer Verbindungen bei Mäusen mittels kombinierter konfokaler und hochauflösender Mikroskopie Martina Marinello*1,2, Jérémie Cosette*1, Caroline Bogni1,2, Jérôme Denard1,2, Daniel Stockholm*1,3, Ana Buj-Bello*1,2 1Genethon, 91000, Evry, France, 2Université Paris-Saclay, Univ Evry, Inserm, Genethon, Integrare research unit UMR_S951, 91000, Evry, France, 3Ecole Pratique des Hautes Etudes, PSL Research University, 75014, Paris, France JoVE 63032 Neuroscience
