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.

中文翻译：

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分子伴侣和光感受器功能。

分子伴侣促进和调节细胞内的蛋白质构象变化。这包括许多基本的细胞过程：包括新生链的正确折叠；蛋白质转运和易位；信号转导和蛋白质质量控​​制。因此，分子伴侣在多种形式的人类疾病中很重要，包括神经退行性疾病。在视网膜内，高度专业化的感光细胞提供了一个迷人的范例来研究分子伴侣功能的专业化，并揭示对感光器功能必不可少的独特伴侣需求。几种光感受器蛋白质的突变导致蛋白质错误折叠介导的神经变性。其中最好的特征是分子光传感器视紫质中的突变，它会导致常染色体显性遗传性视网膜色素变性。视紫质生物发生可能需要分子伴侣，而视紫质错误折叠涉及质量控制和细胞对蛋白质聚集反应的分子伴侣。此外，通过鉴定导致遗传性视网膜功能障碍和变性的分子伴侣中的突变，揭示了伴侣机制的组件对光感受器特定作用的专业化。这些分子伴侣参与了几个重要的细胞通路，并进一步阐明了分子伴侣的基本和多样化作用。通过鉴定导致遗传性视网膜功能障碍和变性的分子伴侣中的突变，揭示了伴侣机制的组件对光感受器特定作用的专业化。这些分子伴侣参与了几个重要的细胞通路，并进一步阐明了分子伴侣的基本和多样化作用。通过鉴定导致遗传性视网膜功能障碍和变性的分子伴侣中的突变，揭示了伴侣机制的组件对光感受器特定作用的专业化。这些分子伴侣参与了几个重要的细胞通路，并进一步阐明了分子伴侣的基本和多样化作用。