Intellectual disability and autism spectrum disorder (ASD) are common, and genetic testing
is increasingly performed in individuals with these diagnoses to inform prognosis, refine …

Neurodevelopmental disorders (NDDs), including intellectual disability (ID), autism and
schizophrenia, have high socioeconomic impact, yet poorly understood etiologies. A recent …

Early-onset parkinsonism (EO parkinsonism), defined as subjects with disease onset before
the age of 40 or 50 years, can be the main clinical presentation of a variety of conditions that …

Background Variants in PPP2R5D, affecting the regulatory B56δ subunit of protein
phosphatase 2A (PP2A), have been identified in individuals with neurodevelopmental …

Intrinsically disordered regions (IDR) and short linear motifs (SLiMs) play pivotal roles in the
intricate signaling networks governed by phosphatases and kinases. B56δ (encoded by …

The protein phosphatase 2A complex (PP2A), the major Ser/Thr phosphatase in the brain, is
involved in a number of signalling pathways and functions, including the regulation of crucial …

By removing Ser/Thr-specific phosphorylations in a multitude of protein substrates in diverse
tissues, Protein Phosphatase type 2A (PP2A) enzymes play essential regulatory roles in …

Reversible protein phosphorylation is a fundamental regulation mechanism in eukaryotic
cell and organismal physiology, and in human health and disease. Until recently, and unlike …

Background With advances in clinical genetic testing, associations between genetic
neurodevelopmental disorders and parkinsonism are increasingly recognized. In this …

The links between the two archetypical basal ganglia disorders, dystonia and parkinsonism,
are manifold and stem from clinical observations, imaging studies, animal models and …