Article
Defective trafficking of nephrin missense mutants rescued by a chemical chaperone.
Journal of the American Society of Nephrology : JASN - 1 Jul 2004
Liu Xiao Li, Doné Stefania Cotta, Yan Kunimasa, Kilpeläinen Pekka, Pikkarainen Timo, Tryggvason Karl
Abstract excerpt
The nephrin gene (NPHS1) is mutated in congenital nephrotic syndrome of the Finnish type. Most mutations found in non-Finnish patients are missense mutations. The most common consequence of missense mutations in congenital nephrotic syndrome is a defect in intracellular transport and retention of the mutant proteins in the endoplasmic reticulum (ER), possibly as a result of misfolding and unfavored conformation....
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