title: ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics.
abstract: Adenine nucleotide translocase 2 (ANT2) transports glycolytic ATP across the inner mitochondrial membrane. Patients withANT2deletion were recently reported. We aimed at characterizing mitochondrial functions in ANT2-defective fibroblasts. In spite of ANT2 expression in fibroblasts, we observed no difference between ANT2-defective and control fibroblasts for mitochondrial respiration, respiratory chain activities, mitochondrial membrane potential and intracellular ATP levels. This indicates that ANT2 insufficiency does not alter fibroblasts basal mitochondrial bioenergetics.
authors.affiliation: Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
authors.forename: Dolly
authors.initials: D
authors.lastname: Prabhu
authors.affiliation: Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA ; Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
authors.forename: Amy C
authors.initials: AC
authors.lastname: Goldstein
authors.affiliation: Inserm U1141, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France ; American University of Beirut Medical Center, Department of pathology and laboratory medicine, Cairo street, Hamra, Beirut, Lebanon.
authors.forename: Riyad
authors.initials: R
authors.lastname: El-Khoury
authors.affiliation: Inserm U1141, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Rak
authors.affiliation: Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
authors.forename: Lia
authors.initials: L
authors.lastname: Edmunds
authors.affiliation: Inserm U1141, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Rustin
authors.affiliation: Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA ; Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA ; Department of Human Genetics, University of Pittsburgh, Graduate School of Public Health, Pittsburgh, PA, USA.
authors.forename: Jerry
authors.initials: J
authors.lastname: Vockley
authors.affiliation: Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA ; Inserm U1141, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France ; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France.
authors.forename: Manuel
authors.initials: M
authors.lastname: Schiff