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Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations.
Sbardella, Diego; Tundo, Grazia Raffaella; Cunsolo, Vincenzo; Grasso, Giuseppe; Cascella, Raffaella; Caputo, Valerio; Santoro, Anna Maria; Milardi, Danilo; Pecorelli, Alessandra; Ciaccio, Chiara; Di Pierro, Donato; Leoncini, Silvia; Campagnolo, Luisa; Pironi, Virginia; Oddone, Francesco; Manni, Priscilla; Foti, Salvatore; Giardina, Emiliano; De Felice, Claudio; Hayek, Joussef; Curatolo, Paolo; Galasso, Cinzia; Valacchi, Giuseppe; Coletta, Massimiliano; Graziani, Grazia; Marini, Stefano.
Afiliação
  • Sbardella D; IRCSS-Fondazione GB Bietti, Via Livenza, 3, 00198 Rome, Italy.
  • Tundo GR; Dept of Clinical Sciences and Translational Medicine, University of Rome Tor Vergata, Rome, Italy.
  • Cunsolo V; Department of Chemistry, University of Catania, Catania, Italy.
  • Grasso G; Department of Chemistry, University of Catania, Catania, Italy.
  • Cascella R; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Italy; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.
  • Caputo V; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Italy; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.
  • Santoro AM; Institute of Crystallography, National Research Council, Catania, Italy.
  • Milardi D; Institute of Crystallography, National Research Council, Catania, Italy.
  • Pecorelli A; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy; Plant for Human Health Institute, North Carolina State University, Kannapolis, NC, USA.
  • Ciaccio C; Dept of Clinical Sciences and Translational Medicine, University of Rome Tor Vergata, Rome, Italy.
  • Di Pierro D; Dept of Clinical Sciences and Translational Medicine, University of Rome Tor Vergata, Rome, Italy.
  • Leoncini S; Child Neuropsychiatry Unit, University Hospital, Azienda Ospedaliera Universitaria Senese (AOUS), Siena, Italy; Neonatal Intensive Care Unit, University Hospital, Azienda Ospedaliera Universitaria Senese (AOUS), Siena, Italy.
  • Campagnolo L; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Italy.
  • Pironi V; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Italy.
  • Oddone F; IRCSS-Fondazione GB Bietti, Via Livenza, 3, 00198 Rome, Italy.
  • Manni P; Ophthalmology Unit, St. Andrea Hospital, Faculty of Medicine and Psychology, NESMOS Department, University of Rome "Sapienza", Rome, Italy.
  • Foti S; Department of Chemistry, University of Catania, Catania, Italy.
  • Giardina E; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Italy; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.
  • De Felice C; Neonatal Intensive Care Unit, University Hospital, Azienda Ospedaliera Universitaria Senese (AOUS), Siena, Italy.
  • Hayek J; Neonatal Intensive Care Unit, University Hospital, Azienda Ospedaliera Universitaria Senese (AOUS), Siena, Italy; "Isola di Bau", Multi-Specialist Centre, Certaldo (Florence), Italy.
  • Curatolo P; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Italy.
  • Galasso C; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Italy.
  • Valacchi G; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy; Plant for Human Health Institute, North Carolina State University, Kannapolis, NC, USA.
  • Coletta M; Dept of Clinical Sciences and Translational Medicine, University of Rome Tor Vergata, Rome, Italy.
  • Graziani G; Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
  • Marini S; Dept of Clinical Sciences and Translational Medicine, University of Rome Tor Vergata, Rome, Italy. Electronic address: Stefano.marini@uniroma2.it.
Biochim Biophys Acta Mol Basis Dis ; 1866(7): 165793, 2020 07 01.
Article em En | MEDLINE | ID: mdl-32275946
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Rett / Proteína 2 de Ligação a Metil-CpG / Fosfatase 2 de Especificidade Dupla Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Rett / Proteína 2 de Ligação a Metil-CpG / Fosfatase 2 de Especificidade Dupla Idioma: En Ano de publicação: 2020 Tipo de documento: Article