caa a22 4500 467986061 CHVBK 20180323112532.0 cr unu---uuuuu 170328e19900701xx s 000 0 eng 10.1007/BF00193195 doi (NATIONALLICENCE)springer-10.1007/BF00193195 Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele [Elektronische Daten] [Roberto Taramelli, Marco Pontoglio, Giulia Candiani, Sergio Ottolenghi, Hans Dieplinger, Alberico Catapano, John Albers, Carlo Vergani, John McLean] Summary: The enzyme, lecithin cholesterol acyltransferase (LCAT), is responsible for the esterification of plasma cholesterol mediating the transfer of an acyl group from lecithin to the 3-hydroxy group of cholesterol. Deficiency of the enzyme is a well-known syndrome with a widespread geographic occurrence. We have cloned an allele from a patient homozygous for the LCAT deficiency. The only change that we could detect is a C to T transition in the fourth exon of the gene; this causes a substitution of Arg for Trp at position 147 of the mature protein. The functional significance of such a substitution with respect to the enzyme defect was demonstrated by transfecting the mutated LCAT gene in the cell line COS-1. Springer-Verlag, 1990 Taramelli Roberto Dipartimento di Genetica e di Biologia dei Microrganismi, Via Celoria, 26, I-20133, Milan, Italy aut Pontoglio Marco Istituto Scientifico S. Raffaele, Via Olgettina, 60, I-20132, Milan, Italy aut Candiani Giulia Dipartimento di Genetica e di Biologia dei Microrganismi, Via Celoria, 26, I-20133, Milan, Italy aut Ottolenghi Sergio Dipartimento di Genetica e di Biologia dei Microrganismi, Via Celoria, 26, I-20133, Milan, Italy aut Dieplinger Hans Institut für Medizinische Biologie der Universität, Schöpfstrasse 41, A-6020, Innsbruck, Austria aut Catapano Alberico Istituto di Farmacologia, Via Balzaretti, 9, I-20129, Milan, Italy aut Albers John Department of Medicine, University of Washington, 326 Ninth Avenue, 98104-2499, Seattle, WA, USA aut Vergani Carlo Istituto di Semeiotica Medica, Via Pace, 14, I-20110, Milan, Italy aut McLean John Department of Cardiovascular Research, Genentech Inc., 460 Point San Bruno Boulevard, San Francisco, USA aut Human Genetics Springer-Verlag 85/2(1990-07-01), 195-199 0340-6717 85:2<195 1990 85 439 https://doi.org/10.1007/BF00193195 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00193195 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Taramelli Roberto Dipartimento di Genetica e di Biologia dei Microrganismi, Via Celoria, 26, I-20133, Milan, Italy aut NATIONALLICENCE 700 1- Pontoglio Marco Istituto Scientifico S. Raffaele, Via Olgettina, 60, I-20132, Milan, Italy aut NATIONALLICENCE 700 1- Candiani Giulia Dipartimento di Genetica e di Biologia dei Microrganismi, Via Celoria, 26, I-20133, Milan, Italy aut NATIONALLICENCE 700 1- Ottolenghi Sergio Dipartimento di Genetica e di Biologia dei Microrganismi, Via Celoria, 26, I-20133, Milan, Italy aut NATIONALLICENCE 700 1- Dieplinger Hans Institut für Medizinische Biologie der Universität, Schöpfstrasse 41, A-6020, Innsbruck, Austria aut NATIONALLICENCE 700 1- Catapano Alberico Istituto di Farmacologia, Via Balzaretti, 9, I-20129, Milan, Italy aut NATIONALLICENCE 700 1- Albers John Department of Medicine, University of Washington, 326 Ninth Avenue, 98104-2499, Seattle, WA, USA aut NATIONALLICENCE 700 1- Vergani Carlo Istituto di Semeiotica Medica, Via Pace, 14, I-20110, Milan, Italy aut NATIONALLICENCE 700 1- McLean John Department of Cardiovascular Research, Genentech Inc., 460 Point San Bruno Boulevard, San Francisco, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/2(1990-07-01), 195-199 0340-6717 85:2<195 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer