Nature Communications (Nov 2022)
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish
- Giulia Fasano,
- Valentina Muto,
- Francesca Clementina Radio,
- Martina Venditti,
- Niloufar Mosaddeghzadeh,
- Simona Coppola,
- Graziamaria Paradisi,
- Erika Zara,
- Farhad Bazgir,
- Alban Ziegler,
- Giovanni Chillemi,
- Lucia Bertuccini,
- Antonella Tinari,
- Annalisa Vetro,
- Francesca Pantaleoni,
- Simone Pizzi,
- Libenzio Adrian Conti,
- Stefania Petrini,
- Alessandro Bruselles,
- Ingrid Guarnetti Prandi,
- Cecilia Mancini,
- Balasubramanian Chandramouli,
- Magalie Barth,
- Céline Bris,
- Donatella Milani,
- Angelo Selicorni,
- Marina Macchiaiolo,
- Michaela V. Gonfiantini,
- Andrea Bartuli,
- Riccardo Mariani,
- Cynthia J. Curry,
- Renzo Guerrini,
- Anne Slavotinek,
- Maria Iascone,
- Bruno Dallapiccola,
- Mohammad Reza Ahmadian,
- Antonella Lauri,
- Marco Tartaglia
Affiliations
- Giulia Fasano
- Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS
- Valentina Muto
- Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS
- Francesca Clementina Radio
- Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS
- Martina Venditti
- Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS
- Niloufar Mosaddeghzadeh
- Institute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf
- Simona Coppola
- National Center for Rare Diseases, Istituto Superiore di Sanità
- Graziamaria Paradisi
- Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS
- Erika Zara
- Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS
- Farhad Bazgir
- Institute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf
- Alban Ziegler
- UFR Santé de l’Université d’Angers, INSERM U1083, CNRS UMR6015, MITOVASC, SFR ICAT
- Giovanni Chillemi
- Department for Innovation in Biological Agro-food and Forest systems (DIBAF), University of Tuscia
- Lucia Bertuccini
- Servizio grandi strumentazioni e core facilities, Istituto Superiore di Sanità
- Antonella Tinari
- Centro di riferimento per la medicina di genere, Istituto Superiore di Sanità
- Annalisa Vetro
- Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children’s Hospital, University of Florence
- Francesca Pantaleoni
- Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS
- Simone Pizzi
- Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS
- Libenzio Adrian Conti
- Confocal Microscopy Core Facility, Ospedale Pediatrico Bambino Gesù, IRCCS
- Stefania Petrini
- Confocal Microscopy Core Facility, Ospedale Pediatrico Bambino Gesù, IRCCS
- Alessandro Bruselles
- Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità
- Ingrid Guarnetti Prandi
- Department for Innovation in Biological Agro-food and Forest systems (DIBAF), University of Tuscia
- Cecilia Mancini
- Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS
- Balasubramanian Chandramouli
- Super Computing Applications and Innovation, CINECA
- Magalie Barth
- Département de Génétique, CHU d’Angers
- Céline Bris
- UFR Santé de l’Université d’Angers, INSERM U1083, CNRS UMR6015, MITOVASC, SFR ICAT
- Donatella Milani
- Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico
- Angelo Selicorni
- Mariani Center for Fragile Children Pediatric Unit, Azienda Socio Sanitaria Territoriale Lariana
- Marina Macchiaiolo
- Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS
- Michaela V. Gonfiantini
- Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS
- Andrea Bartuli
- Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS
- Riccardo Mariani
- Department of Laboratories Ospedale Pediatrico Bambino Gesù, IRCCS
- Cynthia J. Curry
- Genetic Medicine, Dept of Pediatrics, University of California San Francisco, Ca, Fresno, Ca
- Renzo Guerrini
- Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children’s Hospital, University of Florence
- Anne Slavotinek
- Genetic Medicine, Dept of Pediatrics, University of California San Francisco, Ca, Fresno, Ca
- Maria Iascone
- Medical Genetics, ASST Papa Giovanni XXIII
- Bruno Dallapiccola
- Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS
- Mohammad Reza Ahmadian
- Institute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf
- Antonella Lauri
- Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS
- Marco Tartaglia
- Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS
- DOI
- https://doi.org/10.1038/s41467-022-34354-x
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 29
Abstract
Disruptions to the ER-Golgi network can lead to neurodevelopmental disorders, though our understanding of these Golgipathies remains incomplete. Here Lauri, Tartaglia and colleagues show that ARF3 mutations cause a rare pediatric neurological disorder and perform detailed molecular characterization in fish.
