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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


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

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Publisher: Nature Publishing Group
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Provided by: PubMed Central
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