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CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.
Perez BA, Shorrock HK, Banez-Coronel M, Zu T, Romano LE, Laboissonniere LA, Reid T, Ikeda Y, Reddy K, Gomez CM, Bird T, Ashizawa T, Schut LJ, Brusco A, Berglund JA, Hasholt LF, Nielsen JE, Subramony SH, Ranum LP. Perez BA, et al. Among authors: shorrock hk. EMBO Mol Med. 2021 Nov 8;13(11):e14095. doi: 10.15252/emmm.202114095. Epub 2021 Oct 11. EMBO Mol Med. 2021. PMID: 34632710 Free PMC article.
Molecular characterization of myotonic dystrophy fibroblast cell lines for use in small molecule screening.
Jenquin JR, O'Brien AP, Poukalov K, Lu Y, Frias JA, Shorrock HK, Richardson JI, Mazdiyasni H, Yang H, Huigens RW 3rd, Boykin D, Ranum LPW, Cleary JD, Wang ET, Berglund JA. Jenquin JR, et al. Among authors: shorrock hk. iScience. 2022 Apr 4;25(5):104198. doi: 10.1016/j.isci.2022.104198. eCollection 2022 May 20. iScience. 2022. PMID: 35479399 Free PMC article.
Disease-associated inosine misincorporation into RNA hinders translation.
Schroader JH, Jones LA, Meng R, Shorrock HK, Richardson JI, Shaughnessy SM, Lin Q, Begley TJ, Berglund JA, Fuchs G, Handley MT, Reddy K. Schroader JH, et al. Among authors: shorrock hk. Nucleic Acids Res. 2022 Sep 9;50(16):9306-9318. doi: 10.1093/nar/gkac709. Nucleic Acids Res. 2022. PMID: 35979951 Free PMC article.
Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy.
Boyd PJ, Tu WY, Shorrock HK, Groen EJN, Carter RN, Powis RA, Thomson SR, Thomson D, Graham LC, Motyl AAL, Wishart TM, Highley JR, Morton NM, Becker T, Becker CG, Heath PR, Gillingwater TH. Boyd PJ, et al. Among authors: shorrock hk. PLoS Genet. 2017 Apr 20;13(4):e1006744. doi: 10.1371/journal.pgen.1006744. eCollection 2017 Apr. PLoS Genet. 2017. PMID: 28426667 Free PMC article.
21 results