Mitochondrial H2O2 Generation Via the Acyl-CoA Dehydrogenases Yuxun Zhang, Megan E. Beck, Sivakama S. Bharathi, Xue-Jun Zhao, and Eric S. Goetzman* Children’s Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA *Corresponding author: Eric Goetzman, PhD; Rangos 5117, Children’s Hospital of Pittsburgh, 4401 Penn Ave, Pittsburgh, PA, 15224; eric.goetzman@chp.edu, [...]
A novel loss of function FLAD1 variant, causing riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD) Corresponding Authors: Z Nochi1, B Ryder2, M Tolomeo3, M Colella3, M Barile3, RKJ Olsen1, M Inbar-Feigenberg2 1Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University and Aarhus University Hospital, [...]
Sex specific metabolic phenotype in very-long chain acyl-CoA dehydrogenase deficient (VLCAD-/-) mice Zeinab Wehbe MSc, Khaled Alatibi BSc, Ute Spiekerkoetter MD, Sara Tucci* PhD Laboratory of Clinical Biochemistry and Metabolism, Center for Pediatric and Adolescent Medicine, Medical Center- University of Freiburg, Faculty of Medicine, University of [...]
Dysregulation of mitochondrial respiration by fatty acids accumulating in VLCAD deficiency in skeletal muscle of adolescent rats Cristiane Cecatto MSc1, Alexandre Umpierrez Amaral PhD2, Lucas Henrique Rodrigues da Silva1, Moacir Wajner MD, PhD1,3* 1Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do [...]
Characterizing the Molecular Architecture of Mitochondrial Energy Metabolism Presented By: Presenter: Yudong Wang, PhD Contact Information: Yudong.wang@chp.edu, 724-889-7440 Authors: Yudong Wang1, Johan Palmfeldt2, Neils Gregersen2, Alexander Makhov3, James F. Conway3, Meicheng Wang4, Stephen P. McCalley5, Shrabani Basu5, Hana Alharbi1, Claudette St. Croix6, Mike Calderon6 Xuemei Zeng6, Simon [...]
Disturbance of energy and calcium homeostasis and permeability transition induction provoked by fatty acids accumulated in VLCAD deficiency in rat skeletal muscle mitochondria Alexandre Umpierrez Amaral PhD1*, Cristiane Cecatto MSc2, Alessandro Wajner PhD2, Janaína Camacho da Silva PhD2, Kaleb Pinto Spannenberger2, Moacir Wajner MD, PhD2,3 1Departamento [...]
High frequency of LCHADD in Moscow and Moscow region. Natalia Pechatnikova 1,, Nina Polyakova 1, Victoria Kakaulina1, Vera Zarubina1, Oleg Potekhin 1, Artem Bullikh 1, Galina Baydakova2 1 – Morozov′s Children Clinical Hospital, Moscow, Russia 2 – Research Center for Medical Genetics, Moscow, Russia Natalia [...]
Novel therapeutics for fatty acid oxidation disorders Paschalis-Thomas Doulias Ph.D.*, Margarita Tenopoulou Ph.D., Gabriella Zura B.Sc., Harry Ischiropoulos Ph.D The Children’s Hospital of Philadelphia, Philadelphia, PA, USA *email: doulias@email.chop.edu, tel: +1 267-426-6944 Herein, we are presenting evidence for the therapeutic efficacy of a hybrid [...]
Reduction of acylcarnitines restores electrophysiological abnormalities in VLCAD deficient hiPSC- cardiomyocytes Authors: Suzan J.G. Knottnerus1,2*, Isabella Mengarelli 3*, Rob C.I. Wüst1, Vincent Portero3, Lodewijk IJlst1, Jeannette C. Bleeker 1,2, Sacha Ferdinandusse1, Ronald J.A. Wanders1, Frits A. Wijburg4, Gepke Visser1,2,Kaomei Guan6, Arie O. Verkerk4,5, Riekelt H. [...]
Cardiac magnetic resonance imaging and spectroscopy in patients with long-chain fatty acid β-oxidation deficiency Adrianus J. Bakermans PhD1*, Suzan J.G. Knottnerus MD2, Jeannette C. Bleeker MD2,3, Aart J. Nederveen PhD1, Riekelt H. Houtkooper PhD2, Sacha Ferdinandusse PhD2, Mirjam Langeveld MD PhD4, Gustav J. Strijkers PhD5, Frits A. [...]
