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A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect.
Vicario, Mattia; Calì, Tito; Cieri, Domenico; Vallese, Francesca; Bortolotto, Raissa; Lopreiato, Raffaele; Zonta, Francesco; Nardella, Marta; Micalizzi, Alessia; Lefeber, Dirk J; Valente, Enza Maria; Bertini, Enrico; Zanotti, Giuseppe; Zanni, Ginevra; Brini, Marisa; Carafoli, Ernesto.
Afiliação
  • Vicario M; Department of Biomedical Sciences, University of Padova, 35131 Padova, (Italy).
  • Calì T; Department of Biomedical Sciences, University of Padova, 35131 Padova, (Italy).
  • Cieri D; Department of Biomedical Sciences, University of Padova, 35131 Padova, (Italy).
  • Vallese F; Department of Biomedical Sciences, University of Padova, 35131 Padova, (Italy).
  • Bortolotto R; Department of Biomedical Sciences, University of Padova, 35131 Padova, (Italy).
  • Lopreiato R; Department of Biomedical Sciences, University of Padova, 35131 Padova, (Italy).
  • Zonta F; Shanghai Institute of Advanced Immunochemical Studies, ShanghaiTech University, Shanghai, China; Department of Biomedical Sciences, Institute of Cell Biology and Neurobiology, Italian National Research Council, 00015, Monterotondo, Rome, Italy.
  • Nardella M; Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Micalizzi A; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy.
  • Lefeber DJ; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen, The Netherlands.
  • Valente EM; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Bertini E; Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Zanotti G; Department of Biomedical Sciences, University of Padova, 35131 Padova, (Italy).
  • Zanni G; Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address: ginevra.zanni@opbg.net.
  • Brini M; Department of Biology, University of Padova, Italy. Electronic address: marisa.brini@unipd.it.
  • Carafoli E; Venetian Institute of Molecular Medicine, Padova, Italy. Electronic address: ernesto.carafoli@unipd.it.
Biochim Biophys Acta Mol Basis Dis ; 1863(12): 3303-3312, 2017 12.
Article em En | MEDLINE | ID: mdl-28807751
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Fosfotransferases (Fosfomutases) / Defeitos Congênitos da Glicosilação / Mutação de Sentido Incorreto / ATPases Transportadoras de Cálcio da Membrana Plasmática Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Fosfotransferases (Fosfomutases) / Defeitos Congênitos da Glicosilação / Mutação de Sentido Incorreto / ATPases Transportadoras de Cálcio da Membrana Plasmática Idioma: En Ano de publicação: 2017 Tipo de documento: Article