Conference Agenda

Overview and details of the sessions of this conference. Please select a date or location to show only sessions at that day or location. Please select a single session for detailed view (with abstracts and downloads if available).

 
 
Session Overview
Session
Session 2.3: Modelling pathogenic mechanisms: OXPHOS, metabolic rewiring and tissue specificity
Time:
Monday, 12/June/2023:
1:45pm - 3:30pm

Session Chair: Cristina Ugalde
Session Chair: Giovanni Manfredi
Location: Bologna Congress Center - Sala Europa

Address: Piazza della Costituzione, 4/a, Bologna (BO), Italy


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Presentations
Invited

Metabolic adaptations of respiratory chain organization and function

Erika Fernandez-Vizarra1,2

1Department of Biomedical Sciences, University of Padova, Italy; 2Veneto Institute of Molecular Medicine, Padova, Italy



Invited

Pluripotent stem cells and brain organoids for drug discovery of mitochondrial diseases

Alessandro Prigione

Heinrich Heine University, Düsseldorf, Germany



Oral presentation

High-throughput single cell analysis reveals progressive mitochondrial DNA mosaicism developing throughout life

Angelos Glynos1,2, Lyuba V. Bozhilova1,2, Michele Frison1,2, Stephen P. Burr1,2, James B. Stewart3, Patrick F. Chinnery1,2

1Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 2Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 3Biosciences Institute, Faculty of Medical Sciences, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK



Oral presentation

A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy.

Guido Primiano3, Nneka Southwell1, Viraj Nadkarni1, Emelie Beattie1, Maria Lucia Valentino4, Valerio Carelli4, Serenella Servidei3, Giovanni Manfredi1, Qiuying Chen2, Marilena D'Aurelio1

1Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY; 2Weill Cornell Medicine, Department of Pharmacology, New York, NY; 3Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy; 4IRCCS, Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy; Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy



Oral presentation

Succinylation as a novel pathogenic mechanism in a children's mitochondrial brain disease

Pieti Elonkirjo1, Tuomas Kukkonen1, Juan Liu2, Jason W. Locasale2, Sami Jalil1, Birgit Schilling3, Eric Verdin3,4, Marco Reidelbach5, Outi Haapanen5, Vivek Sharma5,6, Elsebet Oestergaard7, Rosalba Carrozzo8, Berge Minassian9,10, Anu Suomalainen1

1STEMM, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland; 2Department of Pharmacology and Cancer Biology, Duke University School of Medicine, Durham, NC, USA; 3Buck Institute for Research on Aging, Novato, CA 94945, USA; 4Gladstone Institutes and University of California, San Francisco, CA 94158, USA; 5Department of Physics, University of Helsinki, Finland; 6HiLIFE Institute of Biotechnology, University of Helsinki, Finland; 7Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark; 8Unit of Cellular Biology and Mitochondrial Diseases, “Bambino Gesù” Children's Hospital, IRCCS, Rome, Italy; 9Program in Genetics and Genome Biology, The Hospital for Sick Children, Institute of Medical Science University of Toronto, Toronto, Ontario, Canada; 10Division of Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA



Flash Talk

The levels and activation state of the pyruvate dehydrogenase complex modulate the SCAFI-dependent organization of the mitochondrial respiratory chain

Sandra Lopez-Calcerrada1, Ana Sierra-Magro1, Erika Fernández-Vizarra2, Cristina Ugalde1,3

1Instituto de Investigación Hospital 12 de Octubre, Madrid 28041, Spain; 2Department of Biomedical Sciences, University of Padova, 35131 Padova, Italy; 3Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, Madrid, Spain



Flash Talk

Oxphos deficiency indicates novel functions for the mitochondrial protein import subunit tim50

Jordan J Crameri1, Catherine S Palmer1, David Coman2, David A Stroud1, David R Thorburn3,4,5, Ann E Frazier3,4, Diana Stojanovski1

1Department of Biochemistry and Pharmacology and the Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, 3010, Australia; 2Queensland Children’s Hospital, Department of Metabolic Medicine, South Brisbane, Brisbane, Queensland, 4001, Australia; 3Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria, 3052, Australia; 4Department of Paediatrics, University of Melbourne, Melbourne, Victoria, 3052, Australia; 5Victorian Clinical Genetics Services, Royal Children’s Hospital, Melbourne, Victoria, 3052, Australia



Flash Talk

Microproteins in metabolic regulation

Jiemin Nah1, Baptiste Kerouanton1, David Robinson2, Kyle Dunlap3, Pooja Sridnivasan1, Sonia Chothani1, Greg Ducker3, Owen Rackham4, David Stroud2, Lena Ho1

1Duke-NUS Medical School, Singapore; 2University of Melbourne, Australia; 3University of Utah, USA; 4University of Southampton, UK