Molecular Bases of Neurodegenerative Disorders of the Retina

Molecular Bases of Neurodegenerative Disorders of the Retina

This book focuses on the physiology and molecular biology of the front and back regions of the eye. Specifically, the chapters of this book cover topics that explain currently less understood aspects ...
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Inositol Phosphatases in Retinal Ciliary Disorder

Pp. 39-53 (15)

Cathleen Wallmuth, Na Luo and Yang Sun

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.

Affiliation:

Indiana University School of Medicine, 1160 W. Michigan St., Indianapolis, IN 46202, USA