...Rodanthi Lyraki; Mandy Lokaj; Dinesh C. Soares; Abigail Little; Matthieu Vermeren; Joseph A. Marsh; Alfred Wittinghofer; Toby Hurd ABSTRACT Retinitis pigmentosa 2 ( RP2 ) is the causative gene for a form of X-linked retinal degeneration. RP2 was previously shown to have GTPase-activating protein...

...Toby W. Hurd; Shuling Fan; Ben L. Margolis Ciliopathies represent a newly emerging group of human diseases that share a common etiology resulting from dysfunction of the cilium or centrosome. The gene encoding the retinitis pigmentosa 2 protein (RP2) is mutated in X-linked retinitis pigmentosa. RP2...

...Maria Kosmaoglou; Naheed Kanuga; Mònica Aguilà; Pere Garriga; Michael E. Cheetham Mutations in rod opsin, the archetypal G-protein-coupled receptor, cause retinitis pigmentosa. The majority of mutations, e.g. P23H, cause protein misfolding, resulting in ER retention, induction of the unfolded...

... 5 2006 © The Company of Biologists Limited 2006 2006 Rhodopsin Arrestin Retinitis pigmentosa Endocytosis AP-2 Inherited retinal diseases are heterogeneous in both their pathology and genetic origin. These diseases are characterized by the premature and progressive loss...

...Richard S. Saliba; Peter M. G. Munro; Philip J. Luthert; Michael E. Cheetham Mutations in the photopigment rhodopsin are the major cause of autosomal dominant retinitis pigmentosa. The majority of mutations in rhodopsin lead to misfolding of the protein. Through the detailed examination of P23H...

...Xinran Liu; Ting-Huai Wu; Sally Stowe; Atsuko Matsushita; Kentaro Arikawa; Muna I. Naash; David S. Williams ABSTRACT Retinitis pigmentosa is a heterogeneous group of inherited retinal disorders in which the photoreceptor cells degenerate. A line of transgenic mice expresses a mutant opsin gene...