CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle associated protein 1 (CAPRIN1; MIM*601178). CAPRIN1 encodes a ubiquitous protein that regulates the transport and translation of neuronal mRNAs critical for synaptic plasticity, as well as mRNAs en...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2023-02, Vol.146 (2), p.534-548
Hauptverfasser:	Pavinato, Lisa, Delle Vedove, Andrea, Carli, Diana, Ferrero, Marta, Carestiato, Silvia, Howe, Jennifer L, Agolini, Emanuele, Coviello, Domenico A, van de Laar, Ingrid, Au, Ping Yee Billie, Di Gregorio, Eleonora, Fabbiani, Alessandra, Croci, Susanna, Mencarelli, Maria Antonietta, Bruno, Lucia P, Renieri, Alessandra, Veltra, Danai, Sofocleous, Christalena, Faivre, Laurence, Mazel, Benoit, Safraou, Hana, Denommé-Pichon, Anne-Sophie, van Slegtenhorst, Marjon A, Giesbertz, Noor, van Jaarsveld, Richard H, Childers, Anna, Rogers, R Curtis, Novelli, Antonio, De Rubeis, Silvia, Buxbaum, Joseph D, Scherer, Stephen W, Ferrero, Giovanni Battista, Wirth, Brunhilde, Brusco, Alfredo
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Attention Deficit Disorder with Hyperactivity Autism Spectrum Disorder - genetics Cell Cycle Proteins - genetics Haploinsufficiency - genetics Humans Induced Pluripotent Stem Cells Language Development Disorders Mice Neurodevelopmental Disorders - complications Neurodevelopmental Disorders - genetics Original Proteins - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!