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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

08:01 EDT 24 Aug 2017 | Nature Publishing

Martin Zenker, Corinne Antignac, Friedhelm Hildebrandt and colleagues report that mutations in OSGEP, TP53RK, TPRKB and LAGE3, genes encoding KEOPS-complex subunits, cause Galloway–Mowat syndrome, a recessive disease characterized by early-onset steroid-resistant nephrotic syndrome and microcephaly. Functional studies suggest that the phenotypes result from impaired protein translation, thus leading to endoplasmic reticulum stress and apoptosis.

Original Article: Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

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