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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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Vydáno v:PLoS Genet
Hlavní autoři: Oltrabella, Francesca, Pietka, Grzegorz, Ramirez, Irene Barinaga-Rementeria, Mironov, Aleksandr, Starborg, Toby, Drummond, Iain A., Hinchliffe, Katherine A., Lowe, Martin
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2015
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4383555/
https://ncbi.nlm.nih.gov/pubmed/25838181
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1005058
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