Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.

Abstract excerpt

Podocin is a key component of the slit diaphragm in the glomerular filtration barrier, and mutations in the podocin-encoding gene NPHS2 are a common cause of hereditary steroid-resistant nephrotic syndrome. A mutant allele encoding podocin with a p.R138Q amino acid substitution is the most frequent pathogenic variant in European and North American children, and the corresponding mutant protein is poorly expressed...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Calnexin
• Share to Endoplasmic Reticulum