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Molecular mechanisms of GCH1-associated Parkinson's disease.

GCH1 mutations are a known cause of dopamine-responsive dystonia. GCH1 mutations lead to reduced levels of tetrahydrobiopterin (BH4), an important cofactor in the dopamine synthesis pathway. BH4 also exhibits anti-oxidative properties. Very recently, a new link was discovered between GCH1 mutations and the risk of ParkinsonĀ“s disease. My research project focuses on unraveling the mechanisms by which GCH1 mutations predispose to nigrostriatal cell death. This will be investigated by experiments in fibroblasts from patients with GCH1 mutations, iPSC-derived dopaminergic neurons from these patients and Drosophila models.


Date:1 Oct 2015 →  30 Jun 2021
Keywords:Molecular mechanisms, GCH1-associated Parkinson's disease
Disciplines:Neurosciences, Biological and physiological psychology, Cognitive science and intelligent systems, Developmental psychology and ageing
Project type:PhD project