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Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Fasano, Giulia; Muto, Valentina; Radio, Francesca Clementina; Venditti, Martina; Mosaddeghzadeh, Niloufar; Coppola, Simona; Paradisi, Graziamaria; Zara, Erika; Bazgir, Farhad; Ziegler, Alban; Chillemi, Giovanni; Bertuccini, Lucia; Tinari, Antonella; Vetro, Annalisa; Pantaleoni, Francesca; Pizzi, Simone; Conti, Libenzio Adrian; Petrini, Stefania; Bruselles, Alessandro; Prandi, Ingrid Guarnetti; Mancini, Cecilia; Chandramouli, Balasubramanian; Barth, Magalie; Bris, Céline; Milani, Donatella; Selicorni, Angelo; Macchiaiolo, Marina; Gonfiantini, Michaela V; Bartuli, Andrea; Mariani, Riccardo; Curry, Cynthia J; Guerrini, Renzo; Slavotinek, Anne; Iascone, Maria; Dallapiccola, Bruno; Ahmadian, Mohammad Reza; Lauri, Antonella; Tartaglia, Marco.
Affiliation
  • Fasano G; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Muto V; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Venditti M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Mosaddeghzadeh N; Institute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
  • Coppola S; National Center for Rare Diseases, Istituto Superiore di Sanità, 00161, Rome, Italy.
  • Paradisi G; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Zara E; Department for Innovation in Biological Agro-food and Forest systems (DIBAF), University of Tuscia, 01100, Viterbo, Italy.
  • Bazgir F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Ziegler A; Department of Biology and Biotechnology "Charles Darwin", Università "Sapienza", Rome, 00185, Italy.
  • Chillemi G; Institute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
  • Bertuccini L; UFR Santé de l'Université d'Angers, INSERM U1083, CNRS UMR6015, MITOVASC, SFR ICAT, F-49000, Angers, France.
  • Tinari A; Département de Génétique, CHU d'Angers, 49000, Angers, France.
  • Vetro A; Department for Innovation in Biological Agro-food and Forest systems (DIBAF), University of Tuscia, 01100, Viterbo, Italy.
  • Pantaleoni F; Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, Centro Nazionale delle Ricerche, 70126, Bari, Italy.
  • Pizzi S; Servizio grandi strumentazioni e core facilities, Istituto Superiore di Sanità, 00161, Rome, Italy.
  • Conti LA; Centro di riferimento per la medicina di genere, Istituto Superiore di Sanità, 00161, Rome, Italy.
  • Petrini S; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50139, Florence, Italy.
  • Bruselles A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Prandi IG; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Mancini C; Confocal Microscopy Core Facility, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Chandramouli B; Confocal Microscopy Core Facility, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Barth M; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161, Rome, Italy.
  • Bris C; Department for Innovation in Biological Agro-food and Forest systems (DIBAF), University of Tuscia, 01100, Viterbo, Italy.
  • Milani D; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Selicorni A; Super Computing Applications and Innovation, CINECA, 40033, Casalecchio di Reno, Italy.
  • Macchiaiolo M; Département de Génétique, CHU d'Angers, 49000, Angers, France.
  • Gonfiantini MV; UFR Santé de l'Université d'Angers, INSERM U1083, CNRS UMR6015, MITOVASC, SFR ICAT, F-49000, Angers, France.
  • Bartuli A; Département de Génétique, CHU d'Angers, 49000, Angers, France.
  • Mariani R; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122, Milan, Italy.
  • Curry CJ; Mariani Center for Fragile Children Pediatric Unit, Azienda Socio Sanitaria Territoriale Lariana, 22100, Como, Italy.
  • Guerrini R; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Slavotinek A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Iascone M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Dallapiccola B; Department of Laboratories Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Ahmadian MR; Genetic Medicine, Dept of Pediatrics, University of California San Francisco, Ca, Fresno, Ca, San Francisco, CA, 94143, USA.
  • Lauri A; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50139, Florence, Italy.
  • Tartaglia M; Genetic Medicine, Dept of Pediatrics, University of California San Francisco, Ca, Fresno, Ca, San Francisco, CA, 94143, USA.
Nat Commun ; 13(1): 6841, 2022 11 11.
Article in En | MEDLINE | ID: mdl-36369169
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Zebrafish / Neurodevelopmental Disorders Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2022 Type: Article Affiliation country: Italy
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Zebrafish / Neurodevelopmental Disorders Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2022 Type: Article Affiliation country: Italy