Article

Tracing the Invisible Mutant ADNP protein in Helsmoortel- Van der Aa Syndrome patients

2023-12-19

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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Literature Corpus work: aa7f9fc0-f9cb-53a1-8537-796eccb7a10a
DOI: 10.21203/rs.3.rs-3725052/v1

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