Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients

Abstract Heterozygous de novo mutations in the Activity-Dependent Neuroprotective Homeobox (ADNP) gene underlie Helsmoortel-Van der Aa syndrome (HVDAS). Most of these mutations are situated in the last exon and we previously demonstrated escape from nonsense-mediated decay by detecting mutant ADNP m...

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Published in:	Scientific Reports
Main Authors:	Claudio Peter D’Incal, Elisa Cappuyns, Kaoutar Choukri, Kevin De Man, Kristy Szrama, Anthony Konings, Lina Bastini, Kim Van Meel, Amber Buys, Michele Gabriele, Ludovico Rizzuti, Alessandro Vitriolo, Giuseppe Testa, Fabio Mohn, Marc Bühler, Nathalie Van der Aa, Anke Van Dijck, R. Frank Kooy, Wim Vanden Berghe
Format:	Article
Language:	English
Published:	Nature Portfolio 2024-06-01
Subjects:	Activity-dependent neuroprotective protein (ADNP) Helsmoortel-Van der Aa syndrome (HVDAS) Antibody validation Blocking peptide competition assay Adnp knock-out cell line Immunoprecipitation
Online Access:	https://doi.org/10.1038/s41598-024-65608-x