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The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2

19:48 EDT 3 Jul 2017 | Nature Publishing

Dysfunction of endolysosomal pathways can lead to generalized dysfunction of the proximal tubule. Here, De Matteis and colleagues describe the role of the inositol polyphosphate 5-phosphatase, OCRL, in the endolysosomal pathway and how mutations in the encoding gene lead to the clinical manifestations of Lowe syndrome and Dent disease 2.

Original Article: The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2

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Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...