Article
A 3D Renal Proximal Tubule on Chip Model Phenocopies Lowe Syndrome and Dent II Disease Tubulopathy.
International journal of molecular sciences - 19 May 2021
Naik Sindhu, Wood Andrew R, Ongenaert Maté, Saidiyan Paniz, Elstak Edo D, Lanz Henriëtte L, Stallen Jan, Janssen Richard, Smythe Elizabeth, Erdmann Kai S
Abstract excerpt
Lowe syndrome and Dent II disease are X-linked monogenetic diseases characterised by a renal reabsorption defect in the proximal tubules and caused by mutations in the OCRL gene, which codes for an inositol-5-phosphatase. The life expectancy of patients suffering from Lowe syndrome is largely reduced because of the development of chronic kidney disease and related complications. There is a need for physiological...
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