FAT1 mutations cause a glomerulotubular nephropathy.

doi:10.1038/ncomms10822

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Article

FAT1 mutations cause a glomerulotubular nephropathy.

Nature communications - 24 Feb 2016

Gee Heon Yung, Sadowski Carolin E, Aggarwal Pardeep K, Porath Jonathan D, Yakulov Toma A, Schueler Markus, Lovric Svjetlana, Ashraf Shazia, Braun Daniela A, Halbritter Jan, Fang Humphrey, Airik Rannar, Vega-Warner Virginia, Cho Kyeong Jee, Chan Timothy A, Morris Luc G T, ffrench-Constant Charles, Allen Nicholas, McNeill Helen, Büscher Rainer, Kyrieleis Henriette, Wallot Michael, Gaspert Ariana, Kistler Thomas, Milford David V, Saleem Moin A, Keng Wee Teik, Alexander Stephen I, Valentini Rudolph P, Licht Christoph, Teh Jun C, Bogdanovic Radovan, Koziell Ania, Bierzynska Agnieszka, Soliman Neveen A, Otto Edgar A, Lifton Richard P, Holzman Lawrence B, Sibinga Nicholas E S, Walz Gerd, Tufro Alda, Hildebrandt Friedhelm

Abstract excerpt

Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease (CKD). Here we show that recessive mutations in FAT1 cause a distinct renal disease entity in four families with a combination of SRNS, tubular ectasia, haematuria and facultative neurological involvement. Loss of FAT1 results in decreased cell adhesion and migration in fibroblasts and podocytes and the decreased migration is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26905694
DOI: 10.1038/ncomms10822
PMCID: PMC4770090

Genes

CDC42
FAT1
RAC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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