Search for dissertations about: "Stefania Cotta Doné"

Found 1 swedish dissertation containing the words Stefania Cotta Doné.

2. 1. Nephrin : intracellular trafficking and podocyte maturation

   Author : Stefania Cotta Doné; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Nephrin; CNF; podocytes; glomerulus;

   Abstract : Congenital nephrotic syndrome of the Finnish type, CNF, is an autossomal recessive disorder caused by mutations in the NPHS1 gene and, consequently, in its product nephrin, a 180 kDa transmembrane protein belonging to the immunoglobulin superfamily of adhesion molecules. In kidneys, nephrin is located exclusively to the podocyte slit diaphragm and it has a key role in organising amd maintaining the renal ultrafiltation barrier. READ MORE