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Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.

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第一作者： Beatriz,Puisac

第一单位： Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain. puisac@unizar.es.

作者： Beatriz,Puisac ^[1] ; Iñigo,Marcos-Alcalde ^[2] ; María,Hernández-Marcos ^[3] ; Pilar,Tobajas Morlana ^[4] ; Alina,Levtova ^[5] ; Bernd C,Schwahn ^[6] ; Corinne,DeLaet ^[7] ; Baiba,Lace ^[8] ; Paulino,Gómez-Puertas ^[9] ; Juan,Pié ^[10]

作者单位： Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain. puisac@unizar.es. ^[1] Molecular Modelling Group, Center of Molecular Biology "Severo Ochoa" (CSIC-UAM), Cantoblanco, E-28049 Madrid, Spain. imarcos@cbm.csic.es.;Faculty of Experimental Sciences, Francisco de Vitoria University, Pozuelo de Alarcón, 28223 Madrid, Spain. imarcos@cbm.csic.es. ^[2] Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain. mhmarcos@unizar.es. ^[3] Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain. pilartobajas@yahoo.es. ^[4] Division of Medical Genetics, Department of Medicine, CHUM (Centre Hospitalier Universitaire de l'Université de Montréal) and Université de Montréal, Montreal, QC H2X 0A9, Canada. alevto@gmail.com. ^[5] Willink Metabolic Unit, Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK. bernd.schwahn@mft.nhs.uk. ^[6] Hôpital Universitaire des Enfants Reine Fabiola, Avenue Crocq 15, B-1020 Brussels, Belgium. corinne.delaet@huderf.be. ^[7] Centre Hospitalier Universitaire de Québec, Québec City, QC G1V 4G2, Canada. baiba.lace@gmail.com. ^[8] Molecular Modelling Group, Center of Molecular Biology "Severo Ochoa" (CSIC-UAM), Cantoblanco, E-28049 Madrid, Spain. pagomez@cbm.csic.es. ^[9] Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain. juanpie@unizar.es. ^[10]

关键词 deficiency enzyme dimerization ketone bodies mitochondrial HMG-CoA synthase mutations