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Autophagy gene haploinsufficiency drives chromosome instability, increases migration, and promotes early ovarian tumors.
Delaney JR, Patel CB, Bapat J, Jones CM, Ramos-Zapatero M, Ortell KK, Tanios R, Haghighiabyaneh M, Axelrod J, DeStefano JW, Tancioni I, Schlaepfer DD, Harismendy O, La Spada AR, Stupack DG. Delaney JR, et al. PLoS Genet. 2020 Jan 10;16(1):e1008558. doi: 10.1371/journal.pgen.1008558. eCollection 2020 Jan. PLoS Genet. 2020. PMID: 31923184 Free PMC article.
Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology.
Wenzel HJ, Murray KD, Haify SN, Hunsaker MR, Schwartzer JJ, Kim K, La Spada AR, Sopher BL, Hagerman PJ, Raske C, Severijnen LWFM, Willemsen R, Hukema RK, Berman RF. Wenzel HJ, et al. Acta Neuropathol Commun. 2019 Feb 26;7(1):27. doi: 10.1186/s40478-019-0677-7. Acta Neuropathol Commun. 2019. PMID: 30808398 Free PMC article.