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Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells.
Georgiou M, Yang C, Atkinson R, Pan KT, Buskin A, Molina MM, Collin J, Al-Aama J, Goertler F, Ludwig SEJ, Davey T, Lührmann R, Nagaraja-Grellscheid S, Johnson CA, Ali R, Armstrong L, Korolchuk V, Urlaub H, Mozaffari-Jovin S, Lako M. Georgiou M, et al. Among authors: pan kt. Clin Transl Med. 2022 Mar;12(3):e759. doi: 10.1002/ctm2.759. Clin Transl Med. 2022. PMID: 35297555 Free PMC article.
Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.
Buskin A, Zhu L, Chichagova V, Basu B, Mozaffari-Jovin S, Dolan D, Droop A, Collin J, Bronstein R, Mehrotra S, Farkas M, Hilgen G, White K, Pan KT, Treumann A, Hallam D, Bialas K, Chung G, Mellough C, Ding Y, Krasnogor N, Przyborski S, Zwolinski S, Al-Aama J, Alharthi S, Xu Y, Wheway G, Szymanska K, McKibbin M, Inglehearn CF, Elliott DJ, Lindsay S, Ali RR, Steel DH, Armstrong L, Sernagor E, Urlaub H, Pierce E, Lührmann R, Grellscheid SN, Johnson CA, Lako M. Buskin A, et al. Among authors: pan kt. Nat Commun. 2018 Oct 12;9(1):4234. doi: 10.1038/s41467-018-06448-y. Nat Commun. 2018. PMID: 30315276 Free PMC article.
A lysine-cysteine redox switch with an NOS bridge regulates enzyme function.
Wensien M, von Pappenheim FR, Funk LM, Kloskowski P, Curth U, Diederichsen U, Uranga J, Ye J, Fang P, Pan KT, Urlaub H, Mata RA, Sautner V, Tittmann K. Wensien M, et al. Among authors: pan kt. Nature. 2021 May;593(7859):460-464. doi: 10.1038/s41586-021-03513-3. Epub 2021 May 5. Nature. 2021. PMID: 33953398
101 results