Molecular Bases of Neurodegenerative Disorders of the Retina

Inositol Phosphatases in Retinal Ciliary Disorder

Author(s): Cathleen Wallmuth, Na Luo and Yang Sun

Pp: 39-53 (15)

DOI: 10.2174/9781681085487117010005

* (Excluding Mailing and Handling)

Abstract

Phosphoinositides are phospholipids that regulate signal transduction, endocytosis, and protein trafficking. Each phosphoinositide has a unique pattern of distribution within cellular compartments and is tightly regulated by inositol kinases and phosphatases localized within a specific membrane compartment. Inositol polyphosphate 5-phosphatases regulate phosphoinositide levels and are implicated in human diseases, such as Lowe syndrome and Joubert syndrome. Here we review the pertinent findings of the roles of 5-phosphatases in cilia function and signaling.


Keywords: Cilia, INPP5E, Joubert syndrome, Lowe syndrome, OCRL.

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