Recombinant PNPLA3 protein shows triglyceride hydrolase activity and its I148M mutation results in loss of function.

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作者： Piero,Pingitore ^[1] ; Carlo,Pirazzi ^[2] ; Rosellina M,Mancina ^[3] ; Benedetta M,Motta ^[4] ; Cesare,Indiveri ^[5] ; Arturo,Pujia ^[6] ; Tiziana,Montalcini ^[6] ; Kristina,Hedfalk ^[7] ; Stefano,Romeo ^[8]

作者单位： Department BEST (Biologia, Ecologia, Scienze della Terra), Unit of Biochemistry and Molecular Biotechnology, University of Calabria, Via P. Bucci 4c, 87036 Arcavacata di Rende, Italy; Department of Chemistry and Molecular Biology, University of Gothenburg, PO Box 462, SE-405 30 Göteborg, Sweden. ^[1] Department of Molecular and Clinical Medicine, Institute of Medicine, Sahlgrenska Center for Cardiovascular and Metabolic Research, Wallenberg Laboratory, University of Gothenburg, Bruna Stråket, 16 SE-413 45 Göteborg, Sweden. ^[2] Department of Molecular and Clinical Medicine, Institute of Medicine, Sahlgrenska Center for Cardiovascular and Metabolic Research, Wallenberg Laboratory, University of Gothenburg, Bruna Stråket, 16 SE-413 45 Göteborg, Sweden; Department of Medical and Surgical Sciences, Clinical Nutrition Unit, University Magna Graecia of Catanzaro, Viale Europa, Localitá Germaneto, 88100 Catanzaro, Italy. ^[3] Department of Molecular and Clinical Medicine, Institute of Medicine, Sahlgrenska Center for Cardiovascular and Metabolic Research, Wallenberg Laboratory, University of Gothenburg, Bruna Stråket, 16 SE-413 45 Göteborg, Sweden; Department of Pathophysiology and Transplantation, University of Milan, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy. ^[4] Department BEST (Biologia, Ecologia, Scienze della Terra), Unit of Biochemistry and Molecular Biotechnology, University of Calabria, Via P. Bucci 4c, 87036 Arcavacata di Rende, Italy. ^[5] Department of Medical and Surgical Sciences, Clinical Nutrition Unit, University Magna Graecia of Catanzaro, Viale Europa, Localitá Germaneto, 88100 Catanzaro, Italy. ^[6] Department of Chemistry and Molecular Biology, University of Gothenburg, PO Box 462, SE-405 30 Göteborg, Sweden. Electronic address: kristina.hedfalk@chem.gu.se. ^[7] Department of Molecular and Clinical Medicine, Institute of Medicine, Sahlgrenska Center for Cardiovascular and Metabolic Research, Wallenberg Laboratory, University of Gothenburg, Bruna Stråket, 16 SE-413 45 Göteborg, Sweden; Department of Medical and Surgical Sciences, Clinical Nutrition Unit, University Magna Graecia of Catanzaro, Viale Europa, Localitá Germaneto, 88100 Catanzaro, Italy. Electronic address: stefano.romeo@wlab.gu.se. ^[8]

关键词 Adiponutrin (ADPN)Lysophosphatidic acid acyltransferase activity Patatin-like phospholipase domain containing 3 (PNPLA3)Pichia pastoris Triglyceride hydrolase activity rs738409 (I148M)