Physiologie und Pathologie des Ionentransportes
Ion transport across cellular membranes is important for cellular homeostasis and has integrative functions such as transepithelial transport or neuronal signal transduction. We study these processes at various levels, from biophysical analysis of transport proteins, structure-function analysis, role in cellular functions such as cell volume regulation or endocytosis, to the role in the organism. The physiological role of ion transport proteins has often been gleaned from pathologies resulting from their inactivation in human diseases or in mouse models. We have discovered several human ‘channelopathies’ and have generated and analyzed many mouse models. We focus on CLC chloride channels and transporters, KCC potassium-chloride co-transporters, and KCNQ potassium channels, and are extending our studies to other channel classes. Their mutational Inactivation led to pathologies ranging from epilepsy, deafness, lysosomal storage disease to osteopetrosis, kidney stones and hypertension. We are particularly interested in the control of neuronal excitability and in the role of chloride and pH in endosomes and lysosomes.