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A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1

By Xiaomin Hou, Nina Hagemann, Stefan Schoebel, Wulf Blankenfeldt, Roger S Goody, Kai S Erdmann and Aymelt Itzen

Abstract

Mutations in the Rab-effector protein OCRL1 give rise to Lowe syndrome. The structural characterization of the OCRL1/Rab8a interaction reveals a novel Rab-effector binding mode and elucidates the structural consequences of disease-relevant ORCL1 mutations

Topics: Article
Publisher: Nature Publishing Group
OAI identifier: oai:pubmedcentral.nih.gov:3102282
Provided by: PubMed Central
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