Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.

doi:10.1007/s00467-022-05440-5

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Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.

Pediatric nephrology (Berlin, Germany) - 1 Nov 2022

Bierzynska Agnieszka, Bull Katherine, Miellet Sara, Dean Philip, Neal Chris, Colby Elizabeth, McCarthy Hugh J, Hegde Shivaram, Sinha Manish D, Bugarin Diz Carmen, Stirrups Kathleen, Megy Karyn, Mapeta Rutendo, Penkett Chris, Marsh Sarah, Forrester Natalie, Afzal Maryam, Stark Hannah, BioResource Nihr, Williams Maggie, Welsh Gavin I, Koziell Ania B, Hartley Paul S, Saleem Moin A

Abstract excerpt

BACKGROUND: Variants in genes encoding nuclear pore complex (NPC) proteins are a newly identified cause of paediatric steroid-resistant nephrotic syndrome (SRNS). Recent reports describing NUP93 variants suggest these could be a significant cause of paediatric onset SRNS. We report NUP93 cases in the UK and demonstrate in vivo functional effects of Nup93 depletion in a fly (Drosophila melanogaster) nephrocyte...

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PMID: 35211795
DOI: 10.1007/s00467-022-05440-5
PMCID: PMC9489583

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