A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability

Abstract E3 ubiquitin protein ligase encoded by ARIH2 gene catalyses the ubiquitination of target proteins and plays a crucial role in posttranslational modifications across various cellular processes. As prior documented, mutations in genes involved in the ubiquitination process are often associate...

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Bibliographic Details

Published in:	Scientific Reports
Main Authors:	Mirella Vinci, Simone Treccarichi, Rosanna Galati Rando, Antonino Musumeci, Valeria Todaro, Concetta Federico, Salvatore Saccone, Maurizio Elia, Francesco Calì
Format:	Article
Language:	English
Published:	Nature Portfolio 2024-07-01
Subjects:	Ubiquitination Whole exome sequencing Autism spectrum disorder E3 ubiquitin-protein ligase Splicing region Autosomal dominant inheritance model
Online Access:	https://doi.org/10.1038/s41598-024-66475-2