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Endoplasmic reticulum stress in human photoreceptor diseases. 2016

Priscilla Chan, and Julia Stolz, and Susanne Kohl, and Wei-Chieh Chiang, and Jonathan H Lin
Pathology, University of California, San Diego, La Jolla, CA, United States.

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.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D012164 Retinal Diseases Diseases involving the RETINA. Disease, Retinal,Diseases, Retinal,Retinal Disease
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D051702 Activating Transcription Factor 6 One of the BASIC-LEUCINE ZIPPER TRANSCRIPTION FACTORS that is synthesized as a membrane-bound protein in the ENDOPLASMIC RETICULUM. In response to endoplasmic reticulum stress it translocates to the GOLGI APPARATUS. It is activated by PROTEASES and then moves to the CELL NUCLEUS to regulate GENETIC TRANSCRIPTION of GENES involved in the unfolded protein response. ATF6 Transcription Factor,Transcription Factor, ATF6
D056811 Unfolded Protein Response A cellular response to environmental insults that cause disruptions in PROTEIN FOLDING and/or accumulation of defectively folded protein in the ENDOPLASMIC RETICULUM. It consists of a group of regulatory cascades that are triggered as a response to altered levels of calcium and/or the redox state of the endoplasmic reticulum. Persistent activation of the unfolded protein response leads to the induction of APOPTOSIS. Protein Response, Unfolded,Protein Responses, Unfolded,Response, Unfolded Protein,Responses, Unfolded Protein,Unfolded Protein Responses
D059865 Endoplasmic Reticulum Stress Various physiological or molecular disturbances that impair ENDOPLASMIC RETICULUM function. It triggers many responses, including UNFOLDED PROTEIN RESPONSE, which may lead to APOPTOSIS; and AUTOPHAGY. Stress, Endoplasmic Reticulum,Endoplasmic Reticulum Stresses,Reticulum Stress, Endoplasmic,Reticulum Stresses, Endoplasmic,Stresses, Endoplasmic Reticulum
D020419 Photoreceptor Cells, Vertebrate Specialized PHOTOTRANSDUCTION neurons in the vertebrates, such as the RETINAL ROD CELLS and the RETINAL CONE CELLS. Non-visual photoreceptor neurons have been reported in the deep brain, the PINEAL GLAND and organs of the circadian system. Retinal Photoreceptor Cells,Rods and Cones,Photoreceptors, Retinal,Photoreceptors, Vertebrate,Retinal Photoreceptors,Vertebrate Photoreceptor Cells,Vertebrate Photoreceptors,Cell, Retinal Photoreceptor,Cell, Vertebrate Photoreceptor,Cells, Retinal Photoreceptor,Cells, Vertebrate Photoreceptor,Cones and Rods,Photoreceptor Cell, Retinal,Photoreceptor Cell, Vertebrate,Photoreceptor Cells, Retinal,Photoreceptor, Retinal,Photoreceptor, Vertebrate,Retinal Photoreceptor,Retinal Photoreceptor Cell,Vertebrate Photoreceptor,Vertebrate Photoreceptor Cell

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