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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.
Mutation analysis of CHCHD10 in different neurodegenerative diseases.
Zhang M, Xi Z, Zinman L, Bruni AC, Maletta RG, Curcio SA, Rainero I, Rubino E, Pinessi L, Nacmias B, Sorbi S, Galimberti D, Lang AE, Fox S, Surace EI, Ghani M, Guo J, Sato C, Moreno D, Liang Y, Keith J, Traynor BJ, St George-Hyslop P, Rogaeva E. Zhang M, et al. Brain. 2015 Sep;138(Pt 9):e380. doi: 10.1093/brain/awv082. Epub 2015 Mar 31. Brain. 2015. PMID: 25833818 Free PMC article. No abstract available.
409 results