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ALS mutations in FUS cause neuronal dysfunction and death in Caenorhabditis elegans by a dominant gain-of-function mechanism.
Murakami T, Yang SP, Xie L, Kawano T, Fu D, Mukai A, Bohm C, Chen F, Robertson J, Suzuki H, Tartaglia GG, Vendruscolo M, Kaminski Schierle GS, Chan FT, Moloney A, Crowther D, Kaminski CF, Zhen M, St George-Hyslop P. Murakami T, et al. Hum Mol Genet. 2012 Jan 1;21(1):1-9. doi: 10.1093/hmg/ddr417. Epub 2011 Sep 23. Hum Mol Genet. 2012. PMID: 21949354 Free PMC article.
Interactome analyses of mature γ-secretase complexes reveal distinct molecular environments of presenilin (PS) paralogs and preferential binding of signal peptide peptidase to PS2.
Jeon AH, Böhm C, Chen F, Huo H, Ruan X, Ren CH, Ho K, Qamar S, Mathews PM, Fraser PE, Mount HT, St George-Hyslop P, Schmitt-Ulms G. Jeon AH, et al. J Biol Chem. 2013 May 24;288(21):15352-66. doi: 10.1074/jbc.M112.441840. Epub 2013 Apr 15. J Biol Chem. 2013. PMID: 23589300 Free PMC article.
Structural interactions between inhibitor and substrate docking sites give insight into mechanisms of human PS1 complexes.
Li Y, Lu SH, Tsai CJ, Bohm C, Qamar S, Dodd RB, Meadows W, Jeon A, McLeod A, Chen F, Arimon M, Berezovska O, Hyman BT, Tomita T, Iwatsubo T, Johnson CM, Farrer LA, Schmitt-Ulms G, Fraser PE, St George-Hyslop PH. Li Y, et al. Structure. 2014 Jan 7;22(1):125-35. doi: 10.1016/j.str.2013.09.018. Epub 2013 Nov 7. Structure. 2014. PMID: 24210759 Free PMC article.
Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients.
Xi Z, Rainero I, Rubino E, Pinessi L, Bruni AC, Maletta RG, Nacmias B, Sorbi S, Galimberti D, Surace EI, Zheng Y, Moreno D, Sato C, Liang Y, Zhou Y, Robertson J, Zinman L, Tartaglia MC, St George-Hyslop P, Rogaeva E. Xi Z, et al. Hum Mol Genet. 2014 Nov 1;23(21):5630-7. doi: 10.1093/hmg/ddu279. Epub 2014 Jun 6. Hum Mol Genet. 2014. PMID: 24908669 Free article.
Structural biology of presenilin 1 complexes.
Li Y, Bohm C, Dodd R, Chen F, Qamar S, Schmitt-Ulms G, Fraser PE, St George-Hyslop PH. Li Y, et al. Mol Neurodegener. 2014 Dec 18;9:59. doi: 10.1186/1750-1326-9-59. Mol Neurodegener. 2014. PMID: 25523933 Free PMC article. Review.
ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function.
Murakami T, Qamar S, Lin JQ, Schierle GS, Rees E, Miyashita A, Costa AR, Dodd RB, Chan FT, Michel CH, Kronenberg-Versteeg D, Li Y, Yang SP, Wakutani Y, Meadows W, Ferry RR, Dong L, Tartaglia GG, Favrin G, Lin WL, Dickson DW, Zhen M, Ron D, Schmitt-Ulms G, Fraser PE, Shneider NA, Holt C, Vendruscolo M, Kaminski CF, St George-Hyslop P. Murakami T, et al. Neuron. 2015 Nov 18;88(4):678-90. doi: 10.1016/j.neuron.2015.10.030. Epub 2015 Oct 29. Neuron. 2015. PMID: 26526393 Free PMC article.
394 results