Development and characterization of disease models of B56deltopathy, a new syndromic variant of severe intellectual disability: new tools for therapeutic intervention. KU Leuven
PP2A-related intellectual disability (ID) is a recently discovered syndrome, characterized by neurodevelopmental delay and various comorbidities. Thus far, causal mutations have been identified in the structural Aα and regulatory B56δ, -β and -γ subunits. In this thesis, we report 16 individuals with mutations in the catalytic Cα subunit, resulting in ID, often accompanied by seizures, behavioral problems and brain malformations. Biochemical ...