Folding and targeting of neurotransmitter transporters and GPCRs; Intellectual Disability; Molecular Mechanisms of Pharmacological Action; Mutation, Missense; Neuropharmacology; Neuropsychopharmacology; Neurotransmitter Transporters; Neurotransmitter Uptake Inhibitors; Parkinsonian Disorders
My research focuses on rare disease variants occurring in neurotransmitter transporters (NTTs).
We probe both the functional consequences, as well as various molecular aspects (e.g. protein folding), of NTT mutations linked to disorders including epilepsy, infantile parkinsonism & intellectual disability. We also explore novel therapeutic avenues in the pharmacological rescue of such pathological variants using small molecules like chemical/pharmacological chaperones & allosteric modulators.
Other ongoing projects in the lab centre around the molecular structure-function relationships of monoamine transporters and their interactions with antidepressant and psychostimulant drugs.
Techniques, methods & infrastructure
Pharmacological assays (uptake, binding and efflux), molecular biology and biochemistry (site-directed mutagenesis, DNA/RNA purification, cell surface biotinylation, immunoblotting, immunocytochemistry), cell culture (primary neuronal cultures, established cell lines, transient and stable transfections, siRNA-induced knock-down…), microscopy (confocal laser scanning microscopy and förster resonance energy transfer (FRET), collaborative projects investigating transporters in flies (Drosophila melanogaster).