title: Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing ofUBIAD1gene expression.
abstract: Heterozygous mutations in theUBIAD1gene cause Schnyder corneal dystrophy characterized by abnormal cholesterol and phospholipid deposits in the cornea. Ubiad1 protein was recently identified as Golgi prenyltransferase responsible for biosynthesis of vitamin K2 and CoQ10, a key protein in the mitochondrial electron transport chain. Our study shows that silencingUBIAD1in cultured human hepatocellular carcinoma cells causes dramatic morphological changes and cholesterol storage in the mitochondria, emphasizing an important role ofUBIAD1in mitochondrial function.
authors.affiliation: Department of Anatomy and Cell Biology, Faculty of Medicine, McGill University, Montreal, Quebec, Canada.
authors.forename: Carlos R
authors.initials: CR
authors.lastname: Morales
authors.affiliation: CHU Sainte-Justine Research Center, Montreal, Quebec, Canada.
authors.forename: Lubov S
authors.initials: LS
authors.lastname: Grigoryeva
authors.affiliation: CHU Sainte-Justine Research Center, Montreal, Quebec, Canada.
authors.forename: Xuefang
authors.initials: X
authors.lastname: Pan
authors.affiliation: CHU Sainte-Justine Research Center, Montreal, Quebec, Canada.
authors.forename: Luigi
authors.initials: L
authors.lastname: Bruno
authors.affiliation: CHU Sainte-Justine Research Center, Montreal, Quebec, Canada; Department of Pathology and Cell Biology, University of Montreal, Montreal, Quebec, Canada.
authors.forename: Gilles
authors.initials: G
authors.lastname: Hickson
authors.affiliation: Department of Pharmacology, Dalhousie University, Halifax, Nova Scotia, Canada.
authors.forename: Michael H
authors.initials: MH
authors.lastname: Ngo
authors.affiliation: Department of Pharmacology, Dalhousie University, Halifax, Nova Scotia, Canada.
authors.forename: Christopher R
authors.initials: CR
authors.lastname: McMaster
authors.affiliation: CHU Sainte-Justine Research Center, Montreal, Quebec, Canada; Department of Medicine, University of Montreal, Montreal, Quebec, Canada.
authors.forename: Mark E
authors.initials: ME
authors.lastname: Samuels
authors.affiliation: Department of Anatomy and Cell Biology, Faculty of Medicine, McGill University, Montreal, Quebec, Canada; CHU Sainte-Justine Research Center, Montreal, Quebec, Canada; Departments of Paediatrics and Biochemistry, University of Montreal, Montreal, Quebec, Canada.
authors.forename: Alexey V
authors.initials: AV
authors.lastname: Pshezhetsky
keywords: Cholesterol; CoQ10; Mitochondrion; Reactive oxygen species; Schnyder corneal dystrophy