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The R1441C mutation of LRRK2 disrupts GTP hydrolysis.
Lewis PA, Greggio E, Beilina A, Jain S, Baker A, Cookson MR. Lewis PA, et al. Biochem Biophys Res Commun. 2007 Jun 8;357(3):668-71. doi: 10.1016/j.bbrc.2007.04.006. Epub 2007 Apr 10. Biochem Biophys Res Commun. 2007. PMID: 17442267 Free PMC article.
Genetic neuropathology of Parkinson's disease.
Cookson MR, Hardy J, Lewis PA. Cookson MR, et al. Among authors: lewis pa. Int J Clin Exp Pathol. 2008 Jan 1;1(3):217-31. Int J Clin Exp Pathol. 2008. PMID: 18784814 Free PMC article.
The R1441C mutation alters the folding properties of the ROC domain of LRRK2.
Li Y, Dunn L, Greggio E, Krumm B, Jackson GS, Cookson MR, Lewis PA, Deng J. Li Y, et al. Among authors: lewis pa. Biochim Biophys Acta. 2009 Dec;1792(12):1194-7. doi: 10.1016/j.bbadis.2009.09.010. Epub 2009 Sep 23. Biochim Biophys Acta. 2009. PMID: 19781641 Free PMC article.
Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue.
Devine MJ, Kaganovich A, Ryten M, Mamais A, Trabzuni D, Manzoni C, McGoldrick P, Chan D, Dillman A, Zerle J, Horan S, Taanman JW, Hardy J, Marti-Masso JF, Healy D, Schapira AH, Wolozin B, Bandopadhyay R, Cookson MR, van der Brug MP, Lewis PA. Devine MJ, et al. Among authors: lewis pa. PLoS One. 2011;6(7):e22489. doi: 10.1371/journal.pone.0022489. Epub 2011 Jul 22. PLoS One. 2011. PMID: 21799870 Free PMC article.
365 results