Endoplasmic reticulum stress in human photoreceptor diseases
| Autor: | Julia Stolz, Wei-Chieh Chiang, Susanne Kohl, Priscilla Chan, Jonathan H. Lin |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Achromatopsia genetic structures Activating transcription factor Biology Article Photoreceptor cell 03 medical and health sciences 0302 clinical medicine Retinal Diseases Ophthalmology Retinitis pigmentosa medicine Humans Molecular Biology Retina ATF6 General Neuroscience Endoplasmic reticulum Endoplasmic Reticulum Stress medicine.disease eye diseases Activating Transcription Factor 6 Cell biology 030104 developmental biology medicine.anatomical_structure Mutation Unfolded Protein Response Unfolded protein response sense organs Neurology (clinical) 030217 neurology & neurosurgery Photoreceptor Cells Vertebrate Developmental Biology |
| Zdroj: | Brain Research. 1648:538-541 |
| ISSN: | 0006-8993 |
| Popis: | Photoreceptors are specialized sensory neurons essential for light detection in the human eye. Photoreceptor cell dysfunction and death cause vision loss in many eye diseases such as retinitis pigmentosa and achromatopsia. Endoplasmic reticulum (ER) stress and Unfolded Protein Response (UPR) signaling have been implicated in the development and pathology of heritable forms of retinitis pigmentosa and achromatopsia. We review the role of ER stress and UPR in retinitis pigmentosa arising from misfolded rhodopsins (RHO) and in achromatopsia arising from genetic mutations in Activating Transcription Factor 6 (ATF6). This article is part of a Special Issue entitled SI:ER stress. |
| Databáze: | OpenAIRE |
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