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Single-nucleus multiomic atlas of frontal cortex in amyotrophic lateral sclerosis with a deep learning-based decoding of alternative polyadenylation mechanisms.
McKeever PM, Sababi AM, Sharma R, Khuu N, Xu Z, Shen SY, Xiao S, McGoldrick P, Orouji E, Ketela T, Sato C, Moreno D, Visanji N, Kovacs GG, Keith J, Zinman L, Rogaeva E, Goodarzi H, Bader GD, Robertson J. McKeever PM, et al. bioRxiv [Preprint]. 2023 Dec 23:2023.12.22.573083. doi: 10.1101/2023.12.22.573083. bioRxiv. 2023. PMID: 38187588 Free PMC article. Preprint.
Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression.
McGoldrick P, Zhang M, van Blitterswijk M, Sato C, Moreno D, Xiao S, Zhang AB, McKeever PM, Weichert A, Schneider R, Keith J, Petrucelli L, Rademakers R, Zinman L, Robertson J, Rogaeva E. McGoldrick P, et al. Among authors: mckeever pm. Neurology. 2018 Jan 23;90(4):e323-e331. doi: 10.1212/WNL.0000000000004865. Epub 2017 Dec 27. Neurology. 2018. PMID: 29282338 Free PMC article.
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.
Xi Z, Zhang M, Bruni AC, Maletta RG, Colao R, Fratta P, Polke JM, Sweeney MG, Mudanohwo E, Nacmias B, Sorbi S, Tartaglia MC, Rainero I, Rubino E, Pinessi L, Galimberti D, Surace EI, McGoldrick P, McKeever P, Moreno D, Sato C, Liang Y, Keith J, Zinman L, Robertson J, Rogaeva E. Xi Z, et al. Acta Neuropathol. 2015 May;129(5):715-27. doi: 10.1007/s00401-015-1401-8. Epub 2015 Feb 26. Acta Neuropathol. 2015. PMID: 25716178 Free article.
Jump from pre-mutation to pathologic expansion in C9orf72.
Xi Z, van Blitterswijk M, Zhang M, McGoldrick P, McLean JR, Yunusova Y, Knock E, Moreno D, Sato C, McKeever PM, Schneider R, Keith J, Petrescu N, Fraser P, Tartaglia MC, Baker MC, Graff-Radford NR, Boylan KB, Dickson DW, Mackenzie IR, Rademakers R, Robertson J, Zinman L, Rogaeva E. Xi Z, et al. Among authors: mckeever pm. Am J Hum Genet. 2015 Jun 4;96(6):962-70. doi: 10.1016/j.ajhg.2015.04.016. Epub 2015 May 21. Am J Hum Genet. 2015. PMID: 26004200 Free PMC article.
DNA methylation age acceleration is associated with ALS age of onset and survival.
Zhang M, McKeever PM, Xi Z, Moreno D, Sato C, Bergsma T, McGoldrick P, Keith J, Robertson J, Zinman L, Rogaeva E. Zhang M, et al. Among authors: mckeever pm. Acta Neuropathol. 2020 May;139(5):943-946. doi: 10.1007/s00401-020-02131-z. Epub 2020 Mar 7. Acta Neuropathol. 2020. PMID: 32146547 Free PMC article. No abstract available.
21 results