A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.

doi:10.1016/j.devcel.2007.08.004

Article

A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.

Developmental cell - 1 Sept 2007

Erdmann Kai S, Mao Yuxin, McCrea Heather J, Zoncu Roberto, Lee Sangyoon, Paradise Summer, Modregger Jan, Biemesderfer Daniel, Toomre Derek, De Camilli Pietro

Abstract excerpt

Mutations in the inositol 5-phosphatase OCRL are responsible for Lowe syndrome, whose manifestations include mental retardation and renal Fanconi syndrome. OCRL has been implicated in membrane trafficking, but disease mechanisms remain unclear. We show that OCRL visits late-stage, endocytic clathrin-coated pits and binds the Rab5 effector APPL1 on peripheral early endosomes. The interaction with APPL1, which is...

Topics

Adaptor Proteins, Signal Transducing
Amino Acid Sequence
Animals
COS Cells
Carrier Proteins
Cell Line
Chlorocebus aethiops
Clathrin-Coated Vesicles
Crystallography, X-Ray
Endocytosis

Endosomes

Glutathione Transferase

Green Fluorescent Proteins

Humans

Kidney

Models, Biological

Models, Molecular

Molecular Sequence Data

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