Mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) affect the maturation and trafficking of the protein in the cell or cause dysfunction of this cell surface expressed chloride channel. To rescue the cells, compounds will be designed capable of correcting the processing and dysfunction of CFTR. In addition known interacting proteins and novel interacting proteins, identified during the proposed investigations will be characterized at the genetic, biochemical and electrophysiological level and their ability to compensate for or rescue the cells from dysfunction will be determined (in combination with selective compounds) . The thus identified protein network should contribute to the understanding of the clinical variation observed in affected sibs, the role of similar mutations in the frequent CF related diseases and could provide tools to diagnose, monitor and treat these diseases.
Funding SchemeCSC - Cost-sharing contracts
3000 DR Rotterdam
BS8 1TD Bristol, Clifton