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Page 1
The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease.
Rogaeva E, Meng Y, Lee JH, Gu Y, Kawarai T, Zou F, Katayama T, Baldwin CT, Cheng R, Hasegawa H, Chen F, Shibata N, Lunetta KL, Pardossi-Piquard R, Bohm C, Wakutani Y, Cupples LA, Cuenco KT, Green RC, Pinessi L, Rainero I, Sorbi S, Bruni A, Duara R, Friedland RP, Inzelberg R, Hampe W, Bujo H, Song YQ, Andersen OM, Willnow TE, Graff-Radford N, Petersen RC, Dickson D, Der SD, Fraser PE, Schmitt-Ulms G, Younkin S, Mayeux R, Farrer LA, St George-Hyslop P. Rogaeva E, et al. Among authors: bohm c. Nat Genet. 2007 Feb;39(2):168-77. doi: 10.1038/ng1943. Epub 2007 Jan 14. Nat Genet. 2007. PMID: 17220890 Free PMC article.
TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity.
Chen F, Hasegawa H, Schmitt-Ulms G, Kawarai T, Bohm C, Katayama T, Gu Y, Sanjo N, Glista M, Rogaeva E, Wakutani Y, Pardossi-Piquard R, Ruan X, Tandon A, Checler F, Marambaud P, Hansen K, Westaway D, St George-Hyslop P, Fraser P. Chen F, et al. Among authors: bohm c. Nature. 2006 Apr 27;440(7088):1208-12. doi: 10.1038/nature04667. Nature. 2006. PMID: 16641999
APH1 polar transmembrane residues regulate the assembly and activity of presenilin complexes.
Pardossi-Piquard R, Yang SP, Kanemoto S, Gu Y, Chen F, Böhm C, Sevalle J, Li T, Wong PC, Checler F, Schmitt-Ulms G, St George-Hyslop P, Fraser PE. Pardossi-Piquard R, et al. Among authors: bohm c. J Biol Chem. 2009 Jun 12;284(24):16298-16307. doi: 10.1074/jbc.M109.000067. Epub 2009 Apr 15. J Biol Chem. 2009. PMID: 19369254 Free PMC article.
TMP21 transmembrane domain regulates gamma-secretase cleavage.
Pardossi-Piquard R, Böhm C, Chen F, Kanemoto S, Checler F, Schmitt-Ulms G, St George-Hyslop P, Fraser PE. Pardossi-Piquard R, et al. Among authors: bohm c. J Biol Chem. 2009 Oct 16;284(42):28634-41. doi: 10.1074/jbc.M109.059345. Epub 2009 Aug 25. J Biol Chem. 2009. PMID: 19710022 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. Among authors: bohm c. 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.
Coding mutations in SORL1 and Alzheimer disease.
Vardarajan BN, Zhang Y, Lee JH, Cheng R, Bohm C, Ghani M, Reitz C, Reyes-Dumeyer D, Shen Y, Rogaeva E, St George-Hyslop P, Mayeux R. Vardarajan BN, et al. Among authors: bohm c. Ann Neurol. 2015 Feb;77(2):215-27. doi: 10.1002/ana.24305. Ann Neurol. 2015. PMID: 25382023 Free PMC article.
SORL1 mutations in early- and late-onset Alzheimer disease.
Cuccaro ML, Carney RM, Zhang Y, Bohm C, Kunkle BW, Vardarajan BN, Whitehead PL, Cukier HN, Mayeux R, St George-Hyslop P, Pericak-Vance MA. Cuccaro ML, et al. Among authors: bohm c. Neurol Genet. 2016 Oct 26;2(6):e116. doi: 10.1212/NXG.0000000000000116. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27822510 Free PMC article.
Amyloid-β toxicity modulates tau phosphorylation through the PAX6 signalling pathway.
Zhang Y, Zhang Y, Aman Y, Ng CT, Chau WH, Zhang Z, Yue M, Bohm C, Jia Y, Li S, Yuan Q, Griffin J, Chiu K, Wong DSM, Wang B, Jin D, Rogaeva E, Fraser PE, Fang EF, St George-Hyslop P, Song YQ. Zhang Y, et al. Among authors: bohm c. Brain. 2021 Oct 22;144(9):2759-2770. doi: 10.1093/brain/awab134. Brain. 2021. PMID: 34428276
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. Among authors: bohm c. 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.
595 results