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Article

Kidney Organoids Generated Using an Allelic Series of NPHS2 Point Variants Reveal Distinct Intracellular Podocin Mistrafficking.

Journal of the American Society of Nephrology : JASN - 1 Jan 2023

Dorison Aude, Ghobrial Irene, Graham Alison, Peiris Thanushi, Forbes Thomas A, See Michael, Das Mithun, Saleem Moin A, Quinlan Catherine, Lawlor Kynan T, Ramialison Mirana, Howden Sara E, Little Melissa H

Abstract excerpt

BACKGROUND: NPHS2 variants are the most common cause of steroid-resistant nephrotic syndrome in children >1 month old. Missense NPHS2 variants were reported to cause mistrafficking of the encoded protein, PODOCIN, but this conclusion was on the basis of overexpression in some nonpodocyte cell lines. METHODS: We generated a series of human induced pluripotent stem cell (iPSC) lines bearing pathogenic missense...

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Identifiers

PMID: 36167728
DOI: 10.1681/ASN.2022060707
PMCID: PMC10101587

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