Article
A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome.
Kidney international - 1 Apr 2024
Kuzmuk Valeryia, Pranke Iwona, Rollason Ruth, Butler Matthew, Ding Wen Y, Beesley Matthew, Waters Aoife M, Coward Richard J, Sessions Richard, Tuffin Jack, Foster Rebecca R, Mollet Géraldine, Antignac Corinne, Edelman Aleksander, Welsh Gavin I, Saleem Moin A
Abstract excerpt
Podocin is a key membrane scaffolding protein of the kidney podocyte essential for intact glomerular filtration. Mutations in NPHS2, the podocin-encoding gene, represent the commonest form of inherited nephrotic syndrome (NS), with early, intractable kidney failure. The most frequent podocin gene mutation in European children is R138Q, causing retention of the misfolded protein in the endoplasmic reticulum. Here,...
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