Article
Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients.
Scientific reports - 26 Jun 2024
D'Incal Claudio Peter, Cappuyns Elisa, Choukri Kaoutar, De Man Kevin, Szrama Kristy, Konings Anthony, Bastini Lina, Van Meel Kim, Buys Amber, Gabriele Michele, Rizzuti Ludovico, Vitriolo Alessandro, Testa Giuseppe, Mohn Fabio, Bühler Marc, Van der Aa Nathalie, Van Dijck Anke, Kooy R Frank, Berghe Wim Vanden
Abstract excerpt
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 mRNA in patient blood. In this study, wild-type and ADNP mutants are investigated at the protein level and therefore optimal...
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