Disease-causing dysfunctions of barttin, an accessory subunit of ClC-K chloride channels [Elektronische Ressource] / von Audrey Gertruda Huberdina Janssen

Disease-causing dysfunctions of barttin, an accessory subunit of ClC-K chloride channels Von der Naturwissenschaftlichen Fakultät der Gottfried Wilhelm Leibniz Universität Hannover zur Erlangung des Grades Doktorin der Naturwissenschaften -Dr. rer. nat.- genehmigte Dissertation von Audrey Gertruda Huberdina Janssen, M.Sc. geboren am 8. Juli 1980, in Venray, Niederlande 2008 Referent: Prof. Dr. Christoph Fahlke Korreferent: Prof. Dr. Anaclet Ngezahayo Prüfer: Prof. Dr. Symeon Papadopoulos Tag der Promotion: 15-August-2008 Contents I Contents 1. Introduction................................................................................................................... 1 1.1 Membrane proteins in the kidney and the inner ear...................................................... 3 1.1.1 Kidney.................................................................................................................. 3 1.1.2 Inner ear................................................................................................................ 4 1.2 Bartter Syndrome........................................................................................................... 5 1.3 ClC chloride channel / transporter family....................................................................