학술논문
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish
Document Type
article
Author
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
Source
Nature Communications, Vol 13, Iss 1, Pp 1-29 (2022)
Subject
Language
English
ISSN
2041-1723
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.