Ontology highlight
ABSTRACT:
SUBMITTER: Fernandez-Vizarra E
PROVIDER: S-EPMC3030164 | biostudies-literature | 2009
REPOSITORIES: biostudies-literature
Fernandez-Vizarra Erika E Berardinelli Angela A Valente Lucia L Tiranti Valeria V Zeviani Massimo M
BMJ case reports 20090609
Myopathy, lactic acidosis and sideroblastic anaemia (MLASA) is a rare condition that combines early-onset myopathy with lactic acidosis and sideroblastic anaemia. MLASA has been associated with a missense mutation in pseudouridylate synthase 1 (PUS1), an enzyme located in both nucleus and mitochondria, which converts uridine into pseudouridine in several cytosolic and mitochondrial tRNA positions and increases the efficiency of protein synthesis in both compartments. We examined two Italian brot ...[more]