Identifying the folding defect and studying intracellular transportation of mutant proteins causing hereditary polyuric syndromes; studying phenotyping, genotyping and prevention of hereditary kidney diseases.
Identifying the folding defect and studying intracellular transportation of mutant proteins causing hereditary polyuric syndromes; studying phenotyping, genotyping and prevention of hereditary kidney diseases.
RESEARCH RELEVANCE
The goal of the research is early identification and prevention of end-stage renal disease secondary to hereditary kidney disease and observation of molecular mechanisms of mutant proteins with loss of function.