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Session Overview |
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Session 4.1: Therapy 1: preclinical developments
Invited Speaker: N. Larsson; C. Viscomi
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Presentations | ||
Invited
ID: 603 Modelling pathogenic mechanisms: OXPHOS, metabolic rewiring and tissue specificity The Organization of the Respiratory Chain and its role in Metabolism Karolinska Institutet, Sweden Invited
ID: 677 Invited Speakers Developing new therapies for mitochondrial diseases University of Padova, Italy Oral presentation
ID: 193 Therapy 1: preclinical developments AAV-mediated transduction of the nuclear-coded mitochondrial ANT1 gene can ameliorate mouse Ant1-/- pathology: a step toward the treatment of mitochondrial cardiomyopathy 1The Children's Hospital of Philadelphia, PA USA; 2Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA Oral presentation
ID: 371 Therapy 1: preclinical developments Preclinical studies of efficacy and genetic safety of deoxyribonucleosides as a therapy for mitochondrial DNA maintenance defects 1Research Group on Neuromuscular and Mitochondrial Diseases, Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, Spain; 2Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; 3Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; 4Institut Cochin, INSERM Unité 1016–Centre National de la Recherche Scientifique (CNRS), Unité Mixte de Recherche (UMR) 8104–Service de Biochimie Métabolique et Centre de Génétique Moléculaire et Chromosomique, Groupement Hospitalier Universitaire (GHU) Pitié-Salpétrière, Assistance Publique–Hôpitaux de Paris (AP–HP)–Université Paris Descartes, Paris, France; 5Mitochondrial and Neuromuscular Disorders Group, '12 de Octubre’ Hospital Research Institute (imas12), Madrid, Spain; 6Pediatric Neurology Department, Badajoz Hospital Complex, Badajoz, Spain; 7Pediatric Neurology Department, Donostia University Hospital, San Sebastian, Spain; 8Neurology Department, Donostia University Hospital, Osakidetza, San Sebastián. Neuromuscular Group, Neurosciences Area, Biodonostia Research Institute, San Sebastián, Spain; Neurosciences Department, Basque Country University, San Sebastián, Spain; 9Centro de Investigación en Red de Enfermedades Neurodegenerativas, CIBERNED (CIBER), Instituto Carlos III, Madrid, Spain; 10Children Neuromuscular Diseases Unit, Pediatrics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain; 11Department of Neurology, Neuromuscular Diseases Unit, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain; 12Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, Barcelona, Spain; 13Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden; 14Department of Clinical Movement Neurosciences, Royal Free Campus, University College of London, Queen Square Institute of Neurology, London, UK; 15Neuromuscular Unit, Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona, Spain; 16Neuropediatra, Neurolinkia & Hospital Viamed Santa Ángela De la Cruz, Sevilla, Spain; 17Neuromuscular Diseases Unit, Neurology Department, Hospital Universitario Virgen del Rocío/ Instituto de Biomedicina de Sevilla, Sevilla, Spain Flash Talk
ID: 152 Therapy 1: preclinical developments The mitoDdCBE system as a mitochondrial gene therapy approach 1University of Miami, United States of America; 2Max Planck Institute of Biochemistry, Germany; 3Broad Institute, Harvard University, and HHMI, United States of America Bibliography
Mitochondrial genome engineering coming-of-age. Barrera-Paez et al. Trends Genet. 2022, May 19. PMID: 35599021. Mitochondrial gene editing. Shoop et al (Barrera-Paez as third author). Nat Rev Methods Primers. 2023, in press (March 16). Flash Talk
ID: 512 Therapy 1: preclinical developments Genetic variants impact on NQO1 expression and activity driving efficacy of idebenone treatment in Leber’s hereditary optic neuropathy cell models 1Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 2IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; 3Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; 4Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy. Flash Talk
ID: 292 Therapy 1: preclinical developments Peptide mimetic molecules as potential therapeutic agents against diseases related to mt-tRNA point mutations. 1Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Italy; 2Department of Biochemical Sciences "A. Rossi Fanelli, Sapienza University of Rome, Italy; 3Institute of Molecular Biology and Pathology (IBPM), National Research Council (CNR) of Italy Bibliography
Perli E, Pisano A, Pignataro MG, Campese AF, Pelullo M, Genovese I, de Turris V, Ghelli AM, Cerbelli B, Giordano C, Colotti G, Morea V, d'Amati G. Exogenous peptides are able to penetrate human cell and mitochondrial membranes, stabilize mitochondrial tRNA structures, and rescue severe mitochondrial defects. FASEB J. 2020 Jun;34(6):7675-7686. doi: 10.1096/fj.201903270R Italian Patent n.102021000032930 THERAPEUTICAL PEPTIDOMIMETIC Inventors: Giulia d’Amati, Veronica Morea, Annalinda Pisano, Elena Perli, Maria Gemma Pignataro International application No. PCT/IB2022/062354 |