European journal of cell biologyHumansMembrane ProteinsIntracellular Signaling Peptides and ProteinsProtein TransportCell Membrane
Pathogenic podocin variants exhibit distinct defects in trafficking, membrane organization, and degradation pathways.
Pei-Chen Lu, Ruth Rollason, Chia-An Chou, Valeryia Kuzmuk, Kate J Heesom, Moin A Saleem, Gavin I Welsh
Published: 202610.1016/j.ejcb.2025.151526
Abstract
Nephrotic syndrome is frequently associated with pathogenic variants in NPHS2 (podocin), including the common and severe R138Q substitution. Using conditionally immortalized human podocytes expressing Myc-tagged podocin variants (G92C, V180M, R138Q,…
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