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Browsing by Author Farber, Leslie

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  • Thesis


  • Authors: Farber, Leslie (2006)

  • Lowe syndrome is an X-linked recessive disorder characterized by congenital cataracts, mental retardation, and abnormal kidney functions. Loss of function mutations in the OCRL1 gene lead to Lowe syndrome in all patients to date. The ocrll protein was previously identified as a PIP2 5-phosphatase localized to the trans-Golgi network. However, the mechanism through which loss of ocrll leads to the Lowe syndrome phenotype is still unknown. The aim of these studies was to define the cellular role of the PIP2 5-phosphatase, OCRL1, and its paralog, INPP5B. The first goal of this project was to study the ocrll paralog, INPP5B, in order to understand why Inpp5b can compensate for ocrll-defi...