In vivo characterization of a podocyte-expressed short podocin isoform.

ABSTRACT: The most common genetic causes of steroid-resistant nephrotic syndrome (SRNS) are mutations in the NPHS2 gene, which encodes the cholesterol-binding, lipid-raft associated protein podocin. Mass spectrometry and cDNA sequencing revealed the existence of a second shorter isoform in the human kidney in addition to the well-studied canonical full-length protein. Distinct subcellular localization of the shorter isoform that lacks part of the conserved PHB domain suggested a physiological role. Here, we analyzed whether this protein can substitute for the canonical full-length protein. The short isoform of podocin is not found in other organisms except humans. We therefore analysed a mouse line expressing the equivalent podocin isoform (podocin^Δexon5) by CRISPR/Cas-mediated genome edi

SUBMITTER: Butt L 

PROVIDER: S-EPMC10731740 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature