期刊
BRAIN RESEARCH
卷 1648, 期 -, 页码 538-541出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.brainres.2016.04.021
关键词
Photoreceptor; Retinitis pigmentosa; Achromatopsia; Rhodopsin; ATF6; Retina
资金
- NEI NIH HHS [R01 EY020846, P30 EY022589] Funding Source: Medline
- NINDS NIH HHS [R01 NS088485] Funding Source: Medline
- BLRD VA [I01 BX002284] Funding Source: Medline
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. Published by Elsevier B.V.
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