Podocin oligomers regulate the ordering of nephrin chains, providing the molecular basis of <i>NPHS2</i> interallelic interactions
= 1.19E-33). Based on an intermediate effect on the nephrin-nephrin distance and five families with late-onset FSGS, we reconsider the R229Q-R286Tfs*17 association as pathogenic, but via a mechanism different from other R229Q associations and with incomplete penetrance. In conclusion, podocin provides regularly spaced intracellular anchor points for nephrin chains. Podocin homo-oligomerization affects the nephrin-nephrin spacing, thereby providing an explanation for albuminuria in patients with podocin dysfunction and for the interallelic interactions of R229Q.
Authors
- Abhijit Dixit (ORCID: https://orcid.org/0000-0001-9240-0674)
- Miklós Kellermayer (ORCID: https://orcid.org/0000-0002-5553-6553)
- Katalin Pászty (ORCID: https://orcid.org/0000-0003-2457-8555)
- Anita Ungvári-Veres
- Ágnes Mikó
- Violetta Antal-Kónya
- Máté Kétszeri
- Guillaume Dorval (ORCID: https://orcid.org/0000-0003-3883-1398)
- Gusztáv Schay (ORCID: https://orcid.org/0000-0001-9512-3203)
- Kálmán Tory
- Corinne Antignac (ORCID: https://orcid.org/0000-0002-9934-4940)
- Mária Bernáth
- Eszter Balogh (ORCID: https://orcid.org/0000-0003-2813-4759)
- M Keszthelyi (ORCID: https://orcid.org/0000-0001-9148-7675)
- Dániel Seidl
- Dóra K. Menyhárd
- Moin A. Saleem
Institutions
- Semmelweis University (HU)
- Eötvös Loránd University (HU)
- Hôpital Necker-Enfants Malades (FR)
- Inserm (FR)
- Université Paris Cité (FR)
- Nottingham City Hospital (GB)
- University of Bristol (GB)
- Institut des Maladies Génétiques Imagine (FR)
- HUN-REN Research Centre for Natural Sciences (HU)
Publication Details
- Journal
- Proceedings of the National Academy of Sciences
- Published
- 2026-04-14
- DOI
- https://doi.org/10.1073/pnas.2524893123
- Primary Topic
- Renal Diseases and Glomerulopathies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Magyar Tudományos Akadémia