Most of the familial PD cases are caused by recessive mutations in the PARK2/PARKIN gene, which may also be a genetic risk factor for sporadic PD. The PARKIN gene product functions as an E3…
α-Synuclein is one of the top-most genetic risk factors for PD and the protein is the major building block of Lewy bodies, the neuropathological hallmarks in the brain of PD patients. We are using…
Heterozygous mutations in the GBA gene represent the most common genetic risk factor for PD. We built-up a large cohort of PD patients carrying a GBA mutation (PDGBA). Our own findings of PDGBA…
The overall goal of our research is to understand whether and how the interaction between genetic risk, age related metabolic decline and immune dysfunction contribute to the development and…
As mutations within the protein kinase LRRK2 (Leucine-rich repeat kinase 2) are involved in the pathophysiology of familial, as well as sporadic, PD and lead to increased kinase activity, it is…
Although symptomatic treatment has been successful for PD, no therapy exists that halts or slows down the neurodegenerative process. We hypothesise that clinical trials have consistently failed for…
Whole exome and whole genome sequencing (WES and WGS) on large cohorts of patients have found large numbers of potentially pathogenic genomic variants in patients but it is difficult to convincingly…
Neurodegenerative diseases such as PD are characterized by numerous alterations in protein composition of the brain. However, the relevant brain cells are for obvious reasons practically …
