Prenylation defects in inherited retinal diseases

To fulfil their specialised functions, retinal proteins are located at specific positions in photoreceptor cells. These cells consist of many different compartments. Proteins are transported between these compartments through their binding to other proteins or to membranous vesicles. To interact with other proteins or vesicles, proteins contain a hydrophobic lipid molecule, a prenyl group. Many proteins that are mutated in patients with inherited retinal diseases carry a prenyl group or are involved in the synthesis of the prenyl groups. In this review, we discuss the entire spectrum of prenylation defects underlying inherited retinal diseases and propose overlapping diseases mechanisms. (By Dr. Anna Siemiatkowska, http://jmg.bmj.com/content/early/2014/01/08/jmedgenet-2013-102138 )

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