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| Christiane Trimpert explains a new assay |
The Osmoregulation group consists of a dynamic team of
researchers consisting of Post.docs, PhD students and technicians.
The group is supervised by Dr. Peter Deen and located in a state of
the art research building on the University campus and participates
in the Nijmegen Centre for Molecular Life Sciences
(NCMLS), a graduate school of the Radboud
University on cell biological, biochemical and cell
physiological research.
For a proper functioning of epithelial cells, a polarized
sorting and localization of channels and transporters that mediate
transcellular ion and water movement is essential. One such a
protein is the Aquaporin-2 (AQP2) water channel, whose
vasopressin-induced translocation from intracellular vesicles to
the apical membrane of renal collecting duct cells is essential for
a proper regulation of pro-urinal water reabsorption and thus our
body water homeostasis. In congenital Nephrogenic Diabetes
Insipidus (NDI), a disease in which the kidney is unresponsive to
vasopressin, mutations in the vasopressin-type 2 receptor (V2R) or
AQP2 genes result in the synthesis of misfolded or missorted V2R or
AQP2 proteins. Rescuing the missorting/folding of functional
AQP2/V2R mutants might relieve patients from their disease.
Therefore, our work focuses on elucidating the routing regulation
of wild-type AQP2/V2R, dissolving the underlying mechanisms for
missorting of AQP2 mutants, and the identification of
pharmacological chaperones, rescuing the cell surface expression of
AQP2/V2R mutants in NDI.