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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. 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. 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: ubarretxena belandia i. Brain Commun. 2020 Jul 20;2(2):fcaa100. doi: 10.1093/braincomms/fcaa100. eCollection 2020. Brain Commun. 2020. PMID: 33005890 Free PMC article.
The architecture of yeast DNA polymerase ζ.
Gómez-Llorente Y, Malik R, Jain R, Choudhury JR, Johnson RE, Prakash L, Prakash S, Ubarretxena-Belandia I, Aggarwal AK. Gómez-Llorente Y, et al. Cell Rep. 2013 Oct 17;5(1):79-86. doi: 10.1016/j.celrep.2013.08.046. Epub 2013 Oct 10. Cell Rep. 2013. PMID: 24120860 Free PMC article.
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