Endoplasmic reticulum stress in human photoreceptor diseases.
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.
Pathology, University of California, San Diego, La Jolla, CA, United States.
Priscilla
P
Chan
Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany.
Julia
J
Stolz
Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany.
Susanne
S
Kohl
Pathology, University of California, San Diego, La Jolla, CA, United States.
Wei-Chieh
WC
Chiang
Pathology, University of California, San Diego, La Jolla, CA, United States. Electronic address: JLin@ucsd.edu.
Jonathan H
JH
Lin
D051702:Activating Transcription Factor 6 / Q000235:genetics; D059865:Endoplasmic Reticulum Stress / Q000235:genetics / Q000502:physiology*; D006801:Humans; D009154:Mutation / Q000235:genetics; D020419:Photoreceptor Cells, Vertebrate / Q000473:pathology* / Q000502:physiology*; D012164:Retinal Diseases / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D056811:Unfolded Protein Response / Q000235:genetics / Q000502:physiology
C497111:ATF6 protein, human; D051702:Activating Transcription Factor 6
ATF6; Achromatopsia; Photoreceptor; Retina; Retinitis pigmentosa; Rhodopsin