The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule.
Lowe syndrome and Dent-2 disease are caused by mutation of the inositol 5-phosphatase OCRL1. Despite our increased understanding of the cellular functions of OCRL1, the underlying basis for the renal tubulopathy seen in both human disorders, of which a hallmark is low molecular weight proteinuria, i...
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| Main Authors: | Francesca Oltrabella, Grzegorz Pietka, Irene Barinaga-Rementeria Ramirez, Aleksandr Mironov, Toby Starborg, Iain A Drummond, Katherine A Hinchliffe, Martin Lowe |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2015-04-01
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| Series: | PLoS Genetics |
| Online Access: | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1005058&type=printable |
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