Matches in SemOpenAlex for { <https://semopenalex.org/work/W4312160698> ?p ?o ?g. }
- W4312160698 abstract "Activating transcription factor 6 (ATF6), a key regulator of the unfolded protein response, plays a key role in endoplasmic reticulum function and protein homeostasis. Variants of ATF6 that abrogate transcriptional activity cause morphologic and molecular defects in cones, clinically manifesting as the human vision loss disease achromatopsia (ACHM). ATF6 is expressed in all retinal cells. However, the effect of disease-associated ATF6 variants on other retinal cell types remains unclear. Herein, this was investigated by analyzing bulk RNA-sequencing transcriptomes from retinal organoids generated from patients with ACHM, carrying homozygous loss-of-function ATF6 variants. Marked dysregulation in mitochondrial respiratory complex gene expression and disrupted mitochondrial morphology in ACHM retinal organoids were identified. This indicated that loss of ATF6 leads to previously unappreciated mitochondrial defects in the retina. Next, gene expression from control and ACHM retinal organoids were compared with transcriptome profiles of seven major retinal cell types generated from recent single-cell transcriptomic maps of nondiseased human retina. This indicated pronounced down-regulation of cone genes and up-regulation in Müller glia genes, with no significant effects on other retinal cells. Overall, the current analysis of ACHM patient retinal organoids identified new cellular and molecular phenotypes in addition to cone dysfunction: activation of Müller cells, increased endoplasmic reticulum stress, disrupted mitochondrial structure, and elevated respiratory chain activity gene expression." @default.
- W4312160698 created "2023-01-04" @default.
- W4312160698 creator A5005615227 @default.
- W4312160698 creator A5015532769 @default.
- W4312160698 creator A5020049251 @default.
- W4312160698 creator A5021908374 @default.
- W4312160698 creator A5021976855 @default.
- W4312160698 creator A5037855721 @default.
- W4312160698 creator A5070133948 @default.
- W4312160698 creator A5089122118 @default.
- W4312160698 creator A5091772109 @default.
- W4312160698 date "2022-12-01" @default.
- W4312160698 modified "2023-10-18" @default.
- W4312160698 title "Mitochondria and Endoplasmic Reticulum Stress in Retinal Organoids from Patients with Vision Loss" @default.
- W4312160698 cites W1556094842 @default.
- W4312160698 cites W1601380713 @default.
- W4312160698 cites W1697178647 @default.
- W4312160698 cites W1799877731 @default.
- W4312160698 cites W1860608840 @default.
- W4312160698 cites W1964290543 @default.
- W4312160698 cites W1967364673 @default.
- W4312160698 cites W1973834502 @default.
- W4312160698 cites W1975827116 @default.
- W4312160698 cites W1977603207 @default.
- W4312160698 cites W1979733074 @default.
- W4312160698 cites W1980445160 @default.
- W4312160698 cites W1981551685 @default.
- W4312160698 cites W1987368870 @default.
- W4312160698 cites W1994048440 @default.
- W4312160698 cites W1994772574 @default.
- W4312160698 cites W1995545448 @default.
- W4312160698 cites W2003338675 @default.
- W4312160698 cites W2007585755 @default.
- W4312160698 cites W2010048790 @default.
- W4312160698 cites W2010457001 @default.
- W4312160698 cites W2017649359 @default.
- W4312160698 cites W2019192392 @default.
- W4312160698 cites W2024268760 @default.
- W4312160698 cites W2031735388 @default.
- W4312160698 cites W2033248675 @default.
- W4312160698 cites W2034705156 @default.
- W4312160698 cites W2036505824 @default.
- W4312160698 cites W2040742572 @default.
- W4312160698 cites W2047916277 @default.
- W4312160698 cites W2051747007 @default.
- W4312160698 cites W2058483899 @default.
- W4312160698 cites W2061331516 @default.
- W4312160698 cites W2061774676 @default.
- W4312160698 cites W2066739853 @default.
- W4312160698 cites W2075365540 @default.
- W4312160698 cites W2076347167 @default.
- W4312160698 cites W2076769172 @default.
- W4312160698 cites W2084637683 @default.
- W4312160698 cites W2094104557 @default.
- W4312160698 cites W2095075033 @default.
- W4312160698 cites W2096349101 @default.
- W4312160698 cites W2103017472 @default.
- W4312160698 cites W2108645706 @default.
- W4312160698 cites W2111637908 @default.
- W4312160698 cites W2117692658 @default.
- W4312160698 cites W2127639686 @default.
- W4312160698 cites W2127906377 @default.
- W4312160698 cites W2128975348 @default.
- W4312160698 cites W2130410032 @default.
- W4312160698 cites W2131210945 @default.
- W4312160698 cites W2136159746 @default.
- W4312160698 cites W2137531873 @default.
- W4312160698 cites W2144065739 @default.
- W4312160698 cites W2150461206 @default.
- W4312160698 cites W2152477540 @default.
- W4312160698 cites W2159555560 @default.
- W4312160698 cites W2159675211 @default.
- W4312160698 cites W2166131107 @default.
- W4312160698 cites W2218890016 @default.
- W4312160698 cites W2263498456 @default.
- W4312160698 cites W2344201261 @default.
- W4312160698 cites W2397906797 @default.
- W4312160698 cites W2471536144 @default.
- W4312160698 cites W2546671354 @default.
- W4312160698 cites W2562321150 @default.
- W4312160698 cites W2746606846 @default.
- W4312160698 cites W2781651954 @default.
- W4312160698 cites W2787495757 @default.
- W4312160698 cites W2790109811 @default.
- W4312160698 cites W2794768252 @default.
- W4312160698 cites W2886012836 @default.
- W4312160698 cites W2897243648 @default.
- W4312160698 cites W2903993983 @default.
- W4312160698 cites W2910111050 @default.
- W4312160698 cites W2916710616 @default.
- W4312160698 cites W2918136074 @default.
- W4312160698 cites W2944545583 @default.
- W4312160698 cites W2954750492 @default.
- W4312160698 cites W2981346196 @default.
- W4312160698 cites W2995306986 @default.
- W4312160698 cites W3015668518 @default.
- W4312160698 cites W3027649992 @default.
- W4312160698 cites W3087102910 @default.
- W4312160698 cites W3095530261 @default.
- W4312160698 cites W3153956831 @default.