3-year-research proposal, submitted 1 Nov 2018 to JORDAN'S GUARDIAN ANGELS FOUNDATION-by prof.dr. Veerle Janssens (KU Leuven, Leuven, Belgium)

In this project, we aim to provide more fundamental insights into the pathology and disease mechanisms of the newly discovered, syndromic form of intellectual disability (ID), characterized by de novo mutation of PPP2R5D and de novo mutation of PPP2R1A (B56deltopathy). To achieve this, different cellular and in vivo models of these diseases will be generated, and comprehensively characterized-biochemically and phenotypically. Like that, relevant PP2A substrates and neural PP2A-regulted signaling pathways can be identified that may be dysfunctional due to PPP2R5D or PPP2R1A mutations.

Collectively, the obtained insights should on the longer term provide essential clues and a rational basis for targeted therapeutic intervention, in order to improve the brain functions, and hence the quality of life of affected individuals.