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Molecular chaperones and photoreceptor function

Kosmaoglou, M; Schwarz, N; Bett, JS; Cheetham, ME; (2008) Molecular chaperones and photoreceptor function. Progress in Retinal and Eye Research , 27 (4) 434 - 449. 10.1016/j.preteyeres.2008.03.001. Green open access

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Abstract

Molecular chaperones facilitate and regulate protein conformational change within cells. This encompasses many fundamental cellular processes: including the correct folding of nascent chains; protein transport and translocation; signal transduction and protein quality control. Chaperones are, therefore, important in several forms of human disease, including neurodegeneration. Within the retina, the highly specialized photoreceptor cell presents a fascinating paradigm to investigate the specialization of molecular chaperone function and reveals unique chaperone requirements essential to photoreceptor function. Mutations in several photoreceptor proteins lead to protein misfolding mediated neurodegeneration. The best characterized of these are mutations in the molecular light sensor, rhodopsin, which cause autosomal dominant retinitis pigmentosa. Rhodopsin biogenesis is likely to require chaperones, while rhodopsin misfolding involves molecular chaperones in quality control and the cellular response to protein aggregation. Furthermore, the specialization of components of the chaperone machinery to photoreceptor specific roles has been revealed by the identification of mutations in molecular chaperones that cause inherited retinal dysfunction and degeneration. These chaperones are involved in several important cellular pathways and further illuminate the essential and diverse roles of molecular chaperones.

Type: Article
Title: Molecular chaperones and photoreceptor function
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.preteyeres.2008.03.001
Publisher version: http://dx.doi.org/j.preteyeres.2008.03.001
Language: English
Additional information: An Open Access Elsevier publication.
Keywords: Retina, neurodegeneration, retinal dystrophy, molecular chaperone, rhodopsin, rp2, alpl1, heat shock protein, hsp, bardet-biedl-syndrome, leber congenital amaurosis, dominant retinitis-pigmentosa, cyclophilin homolog ninaa, transmembrane conductance regulator, cyclic-gmp phosphodiesterase, ubiquitin-proteasome system, nucleotide exchange factor, aryl-hydrocarbon receptor, x-linked retinoschisis
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/140904
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