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Keywords: Retinitis pigmentosa
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Journal Articles
J Cell Sci (2018) 131 (4): jcs211748.
Published: 20 February 2018
...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...
Includes: Supplementary data
Journal Articles
J Cell Sci (2011) 124 (5): 718–726.
Published: 01 March 2011
...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...
Includes: Supplementary data
Journal Articles
J Cell Sci (2009) 122 (24): 4465–4472.
Published: 15 December 2009
...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...
Includes: Supplementary data
Journal Articles
J Cell Sci (2006) 119 (15): 3141–3148.
Published: 01 August 2006
... the rate of inactivation of the G protein-coupled receptor rhodopsin in vivo. Cell 81 , 841 -848. Rivolta, C., Sharon, D., DeAngelis, M. M. and Dryja, T. P. ( 2002 ). Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum. Mol. Genet. 11 , 1219 -1227...
Journal Articles
J Cell Sci (2002) 115 (14): 2907–2918.
Published: 15 July 2002
...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...