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Keywords: retinitis pigmentosa
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Biochem Soc Trans (2022) 50 (1): 71–82.
Published: 22 February 2022
.... A better understanding of the role of IMPDH1 in the retina and the characterization of an animal disease model will be critical for determining the molecular mechanism of IMPDH1-associated blindness. allosteric regulation retinitis pigmentosa splice variants Inosine-5′-monophosphate...
Biochem Soc Trans (2021) 49 (3): 1221–1231.
Published: 01 June 2021
... expressed splicing factors have been implicated in the condition Retinitis Pigmentosa (RP), a group of diseases characterised by the progressive degeneration of the retina. In many types of RP the disease affects the modified primary cilium of the photoreceptor cells and thus, these types of RP...
Biochem Soc Trans (2018) 46 (6): 1463–1473.
Published: 21 November 2018
...Roly Megaw; Toby W. Hurd Retinitis pigmentosa (RP) is the leading cause of inherited blindness. RP is a genetically heterogeneous disorder, with more than 100 different causal genes identified in patients. Central to disease pathogenesis is the progressive loss of retinal photoreceptors...
Biochem Soc Trans (2016) 44 (5): 1235–1244.
Published: 19 October 2016
...Rodanthi Lyraki; Roly Megaw; Toby Hurd Photoreceptor degeneration is the prominent characteristic of retinitis pigmentosa (RP), a heterogeneous group of inherited retinal dystrophies resulting in blindness. Although abnormalities in many pathways can cause photoreceptor degeneration, one...
Biochem Soc Trans (2004) 32 (5): 828–830.
Published: 26 October 2004
...J. Meuleman; S.A. van de Pavert; J. Wijnholds Several retinal dystrophies, including retinitis pigmentosa type 12 and Leber congenital amaurosis, are caused by a large variety of mutations in the CRB1 ( Crumbs homologue 1 ) gene. This discovery led to an increased focus on the function of CRB1...