Understanding the functional consequences of mutations in the Helsmoortel-Van der Aa and fragile X syndromes
Source
Antwerp, University of Antwerp, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, Department of Biomedical Sciences,416 p.
ADNP exhibits methyltransferase activity in overexpression systems and modulates DNA and histone methylation
Source
Autism research - ISSN 1939-3792-18:11 (2025) p. 2174-2191
A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin : a case study
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Clinical epigenetics - ISSN 1868-7075-17:1 (2025) p. 1-12
The ADNP-mediated transcriptome response to ketamine impairs the cytoskeletal protein axis
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Journal of molecular neuroscience - ISSN 0895-8696-75:4 (2025) p. 1-17
A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome
Source
European journal of human genetics - ISSN 1018-4813- (2025) p.