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Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.
Hui KY, Fernandez-Hernandez H, Hu J, Schaffner A, Pankratz N, Hsu NY, Chuang LS, Carmi S, Villaverde N, Li X, Rivas M, Levine AP, Bao X, Labrias PR, Haritunians T, Ruane D, Gettler K, Chen E, Li D, Schiff ER, Pontikos N, Barzilai N, Brant SR, Bressman S, Cheifetz AS, Clark LN, Daly MJ, Desnick RJ, Duerr RH, Katz S, Lencz T, Myers RH, Ostrer H, Ozelius L, Payami H, Peter Y, Rioux JD, Segal AW, Scott WK, Silverberg MS, Vance JM, Ubarretxena-Belandia I, Foroud T, Atzmon G, Pe'er I, Ioannou Y, McGovern DPB, Yue Z, Schadt EE, Cho JH, Peter I. Hui KY, et al. Among authors: schaffner a. Sci Transl Med. 2018 Jan 10;10(423):eaai7795. doi: 10.1126/scitranslmed.aai7795. Sci Transl Med. 2018. PMID: 29321258 Free PMC article.
Vitamin B12 modulates Parkinson's disease LRRK2 kinase activity through allosteric regulation and confers neuroprotection.
Schaffner A, Li X, Gomez-Llorente Y, Leandrou E, Memou A, Clemente N, Yao C, Afsari F, Zhi L, Pan N, Morohashi K, Hua X, Zhou MM, Wang C, Zhang H, Chen SG, Elliott CJ, Rideout H, Ubarretxena-Belandia I, Yue Z. Schaffner A, et al. Cell Res. 2019 Apr;29(4):313-329. doi: 10.1038/s41422-019-0153-8. Epub 2019 Mar 11. Cell Res. 2019. PMID: 30858560 Free PMC article.
Structural model of the dimeric Parkinson's protein LRRK2 reveals a compact architecture involving distant interdomain contacts.
Guaitoli G, Raimondi F, Gilsbach BK, Gómez-Llorente Y, Deyaert E, Renzi F, Li X, Schaffner A, Jagtap PK, Boldt K, von Zweydorf F, Gotthardt K, Lorimer DD, Yue Z, Burgin A, Janjic N, Sattler M, Versées W, Ueffing M, Ubarretxena-Belandia I, Kortholt A, Gloeckner CJ. Guaitoli G, et al. Among authors: schaffner a. Proc Natl Acad Sci U S A. 2016 Jul 26;113(30):E4357-66. doi: 10.1073/pnas.1523708113. Epub 2016 Jun 29. Proc Natl Acad Sci U S A. 2016. PMID: 27357661 Free PMC article.
Presenilin1 familial Alzheimer disease mutants inactivate EFNB1- and BDNF-dependent neuroprotection against excitotoxicity by affecting neuroprotective complexes of N-methyl-d-aspartate receptor.
Al Rahim M, Yoon Y, Dimovasili C, Shao Z, Huang Q, Zhang E, Kezunovic N, Chen L, Schaffner A, Huntley GW, Ubarretxena-Belandia I, Georgakopoulos A, Robakis NK. Al Rahim M, et al. Among authors: schaffner a. Brain Commun. 2020 Jul 20;2(2):fcaa100. doi: 10.1093/braincomms/fcaa100. eCollection 2020. Brain Commun. 2020. PMID: 33005890 Free PMC article.
Unwinding of the Substrate Transmembrane Helix in Intramembrane Proteolysis.
Brown MC, Abdine A, Chavez J, Schaffner A, Torres-Arancivia C, Lada B, JiJi RD, Osman R, Cooley JW, Ubarretxena-Belandia I. Brown MC, et al. Among authors: schaffner a. Biophys J. 2018 Apr 10;114(7):1579-1589. doi: 10.1016/j.bpj.2018.01.043. Biophys J. 2018. PMID: 29642028 Free PMC article.
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.
Zhang J, Lachance V, Schaffner A, Li X, Fedick A, Kaye LE, Liao J, Rosenfeld J, Yachelevich N, Chu ML, Mitchell WG, Boles RG, Moran E, Tokita M, Gorman E, Bagley K, Zhang W, Xia F, Leduc M, Yang Y, Eng C, Wong LJ, Schiffmann R, Diaz GA, Kornreich R, Thummel R, Wasserstein M, Yue Z, Edelmann L. Zhang J, et al. Among authors: schaffner a. PLoS Genet. 2016 Apr 27;12(4):e1005848. doi: 10.1371/journal.pgen.1005848. eCollection 2016 Apr. PLoS Genet. 2016. PMID: 27120463 Free PMC article.
314 results