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Page 1
Endoplasmic reticulum stress in human photoreceptor diseases.
Chan P, Stolz J, Kohl S, Chiang WC, Lin JH. Chan P, et al. Among authors: kohl s. Brain Res. 2016 Oct 1;1648(Pt B):538-541. doi: 10.1016/j.brainres.2016.04.021. Epub 2016 Apr 23. Brain Res. 2016. PMID: 27117871 Free PMC article. Review.
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Gonzalez Menendez I, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, Seeliger MW, Stanzial F, Benedicenti F, Inzana F, Héon E, Vincent A, Beis J, Strom TM, Rudolph G, Roosing S, Hollander AI, Cremers FP, Lopez I, Ren H, Moore AT, Webster AR, Michaelides M, Koenekoop RK, Zrenner E, Kaufman RJ, Tsang SH, Wissinger B, Lin JH. Kohl S, et al. Nat Genet. 2015 Jul;47(7):757-65. doi: 10.1038/ng.3319. Epub 2015 Jun 1. Nat Genet. 2015. PMID: 26029869 Free PMC article.
Achromatopsia: on the doorstep of a possible therapy.
Zobor D, Zobor G, Kohl S. Zobor D, et al. Among authors: kohl s. Ophthalmic Res. 2015;54(2):103-8. doi: 10.1159/000435957. Epub 2015 Aug 21. Ophthalmic Res. 2015. PMID: 26304472 Free article. Review.
Achromatopsia mutations target sequential steps of ATF6 activation.
Chiang WC, Chan P, Wissinger B, Vincent A, Skorczyk-Werner A, Krawczyński MR, Kaufman RJ, Tsang SH, Héon E, Kohl S, Lin JH. Chiang WC, et al. Among authors: kohl s. Proc Natl Acad Sci U S A. 2017 Jan 10;114(2):400-405. doi: 10.1073/pnas.1606387114. Epub 2016 Dec 27. Proc Natl Acad Sci U S A. 2017. PMID: 28028229 Free PMC article.
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.
Skorczyk-Werner A, Chiang WC, Wawrocka A, Wicher K, Jarmuż-Szymczak M, Kostrzewska-Poczekaj M, Jamsheer A, Płoski R, Rydzanicz M, Pojda-Wilczek D, Weisschuh N, Wissinger B, Kohl S, Lin JH, Krawczyński MR. Skorczyk-Werner A, et al. Among authors: kohl s. Eur J Hum Genet. 2017 Nov;25(11):1210-1216. doi: 10.1038/ejhg.2017.131. Epub 2017 Aug 16. Eur J Hum Genet. 2017. PMID: 28812650 Free PMC article.
Characterization of Retinal Structure in ATF6-Associated Achromatopsia.
Mastey RR, Georgiou M, Langlo CS, Kalitzeos A, Patterson EJ, Kane T, Singh N, Vincent A, Moore AT, Tsang SH, Lin JH, Young MP, Hartnett ME, Héon E, Kohl S, Michaelides M, Carroll J. Mastey RR, et al. Among authors: kohl s. Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2631-2640. doi: 10.1167/iovs.19-27047. Invest Ophthalmol Vis Sci. 2019. PMID: 31237654 Free PMC article.
Multiexon deletion alleles of ATF6 linked to achromatopsia.
Lee EJ, Chiang WJ, Kroeger H, Bi CX, Chao DL, Skowronska-Krawczyk D, Mastey RR, Tsang SH, Chea L, Kim K, Lambert SR, Grandjean JM, Baumann B, Audo I, Kohl S, Moore AT, Wiseman RL, Carroll J, Lin JH. Lee EJ, et al. Among authors: kohl s. JCI Insight. 2020 Apr 9;5(7):e136041. doi: 10.1172/jci.insight.136041. JCI Insight. 2020. PMID: 32271167 Free PMC article. Clinical Trial.
707 results