Ontology highlight
ABSTRACT:
SUBMITTER: Morales CR
PROVIDER: S-EPMC5121353 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Morales Carlos R CR Grigoryeva Lubov S LS Pan Xuefang X Bruno Luigi L Hickson Gilles G Ngo Michael H MH McMaster Christopher R CR Samuels Mark E ME Pshezhetsky Alexey V AV
Molecular genetics and metabolism reports 20140919
Heterozygous mutations in the <i>UBIAD1</i> gene 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 silencing <i>UBIAD1</i> in cultured human hepatocellular carcinoma cells causes dramatic morphological changes and cholesterol storage in ...[more]