Defective trafficking of nephrin missense mutants rescued by a chemical chaperone
XL Liu, SC Doné, K Yan, P Kilpeläinen… - Journal of the …, 2004 - journals.lww.com
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. Because sodium 4-
phenylbutyrate has been shown to function as a chemical chaperone and to correct the …
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. Because sodium 4-
phenylbutyrate has been shown to function as a chemical chaperone and to correct the …