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An Efficient Sieving Method to Isolate Intact Glomeruli from Adult Rat Kidney
Published on: November 1, 2018
A role for OCRL in glomerular function and disease
Rebecca Preston1, Richard W Naylor1, Graham Stewart2
1Wellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, M13 9PT, UK.
Mutations in the OCRL gene cause Lowe syndrome and Dent-2 disease. This study reveals a novel role for OCRL in glomerular function, suggesting kidney tubule investigation for proteinuria patients.
Area of Science:
- Nephrology
- Genetics
- Molecular Biology
Background:
- Lowe syndrome and Dent-2 disease stem from mutations in the OCRL gene, encoding inositol 5-phosphatase.
- OCRL mutations typically cause proximal tubulopathy, potentially leading to Fanconi syndrome.
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