Impact of 100 LRRK2 variants linked to Parkinson's disease on kinase activity and microtubule binding.
The Biochemical Journal
Kalogeropulou, Alexia F AF; Purlyte, Elena E; Tonelli, Francesca F; Lange, Sven M SM; Wightman, Melanie M; Prescott, Alan R AR; Padmanabhan, Shalini S; Sammler, Esther E; Alessi, Dario R DR
Mutations in LRRK2 impair NF-κB pathway in iPSC-derived neurons.
Journal Of Neuroinflammation
López de Maturana, Rakel R; Lang, Valérie V; Zubiarrain, Amaia A; Sousa, Amaya A; Vázquez, Nerea N; Gorostidi, Ana A; Águila, Julio J; López de Munain, Adolfo A; Rodríguez, Manuel M; Sánchez-Pernaute, Rosario R
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.
The Lancet. Neurology
Ross, Owen A OA; Soto-Ortolaza, Alexandra I AI; Heckman, Michael G MG; Aasly, Jan O JO; Abahuni, Nadine N; Annesi, Grazia G; Bacon, Justin A JA; Bardien, Soraya S; Bozi, Maria M; Brice, Alexis A; Brighina, Laura L; Van Broeckhoven, Christine C; Carr, Jonathan J; Chartier-Harlin, Marie-Christine MC; Dardiotis, Efthimios E; Dickson, Dennis W DW; Diehl, Nancy N NN; Elbaz, Alexis A; Ferrarese, Carlo C; Ferraris, Alessandro A; Fiske, Brian B; Gibson, J Mark JM; Gibson, Rachel R; Hadjigeorgiou, Georgios M GM; Hattori, Nobutaka N; Ioannidis, John P A JP; Jasinska-Myga, Barbara B; Jeon, Beom S BS; Kim, Yun Joong YJ; Klein, Christine C; Kruger, Rejko R; Kyratzi, Elli E; Lesage, Suzanne S; Lin, Chin-Hsien CH; Lynch, Timothy T; Maraganore, Demetrius M DM; Mellick, George D GD; Mutez, Eugénie E; Nilsson, Christer C; Opala, Grzegorz G; Park, Sung Sup SS; Puschmann, Andreas A; Quattrone, Aldo A; Sharma, Manu M; Silburn, Peter A PA; Sohn, Young Ho YH; Stefanis, Leonidas L; Tadic, Vera V; Theuns, Jessie J; Tomiyama, Hiroyuki H; Uitti, Ryan J RJ; Valente, Enza Maria EM; van de Loo, Simone S; Vassilatis, Demetrios K DK; Vilariño-Güell, Carles C; White, Linda R LR; Wirdefeldt, Karin K; Wszolek, Zbigniew K ZK; Wu, Ruey-Meei RM; Farrer, Matthew J MJ; ,
14-3-3 binding to LRRK2 is disrupted by multiple Parkinson's disease-associated mutations and regulates cytoplasmic localization.
The Biochemical Journal
Nichols, R Jeremy RJ; Dzamko, Nicolas N; Morrice, Nicholas A NA; Campbell, David G DG; Deak, Maria M; Ordureau, Alban A; Macartney, Thomas T; Tong, Youren Y; Shen, Jie J; Prescott, Alan R AR; Alessi, Dario R DR
Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.
Neurology
Haugarvoll, K K; Rademakers, R R; Kachergus, J M JM; Nuytemans, K K; Ross, O A OA; Gibson, J M JM; Tan, E-K EK; Gaig, C C; Tolosa, E E; Goldwurm, S S; Guidi, M M; Riboldazzi, G G; Brown, L L; Walter, U U; Benecke, R R; Berg, D D; Gasser, T T; Theuns, J J; Pals, P P; Cras, P P; De Deyn, P Paul PP; Engelborghs, S S; Pickut, B B; Uitti, R J RJ; Foroud, T T; Nichols, W C WC; Hagenah, J J; Klein, C C; Samii, A A; Zabetian, C P CP; Bonifati, V V; Van Broeckhoven, C C; Farrer, M J MJ; Wszolek, Z K ZK
Publication Date: 2008-04-15
Variant appearance in text: LRRK2: 4324G>C; A1442P