Parkinson's disease and multiple system atrophy patient iPSC-derived oligodendrocytes exhibit alpha-synuclein-induced changes in maturation and immune reactive properties.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Azevedo, Carla C; Teku, Gabriel G; Pomeshchik, Yuriy Y; Reyes, Juan F JF; Chumarina, Margarita M; Russ, Kaspar K; Savchenko, Ekaterina E; Hammarberg, Anna A; Lamas, Nuno Jorge NJ; Collin, Anna A; Gouras, Gunnar K GK; Klementieva, Oxana O; Hallbeck, Martin M; Taipa, Ricardo R; Vihinen, Mauno M; Roybon, Laurent L
Copy number variant hotspots in Han Taiwanese population induced pluripotent stem cell lines - lessons from establishing the Taiwan human disease iPSC Consortium Bank.
Journal Of Biomedical Science
Huang, Ching-Ying CY; Li, Ling-Hui LH; Hsu, Wan-Tseng WT; Cheng, Yu-Che YC; Nicholson, Martin W MW; Liu, Chun-Lin CL; Ting, Chien-Yu CY; Ko, Hui-Wen HW; Syu, Shih-Han SH; Wen, Cheng-Hao CH; Yan, Zhuge Z; Huang, Hsiang-Po HP; Su, Hong-Lin HL; Chiang, Po-Min PM; Shen, Chia-Ning CN; Chen, Hsin-Fu HF; Yen, B Lin Ju BLJ; Lu, Huai-En HE; Hwang, Shiaw-Min SM; Chiou, Shih-Hwa SH; Ho, Hong-Nerng HN; Wu, Jer-Yuarn JY; Kamp, Timothy J TJ; Wu, Joseph C JC; Hsieh, Patrick C H PCH
Allosteric modulation of the GTPase activity of a bacterial LRRK2 homolog by conformation-specific Nanobodies.
The Biochemical Journal
Leemans, Margaux M; Galicia, Christian C; Deyaert, Egon E; Daems, Elise E; Krause, Linda L; Paesmans, Jone J; Pardon, Els E; Steyaert, Jan J; Kortholt, Arjan A; Sobott, Frank F; Klostermeier, Dagmar D; Versées, Wim W
A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing.
Movement Disorders : Official Journal Of The Movement Disorder Society
A homologue of the Parkinson's disease-associated protein LRRK2 undergoes a monomer-dimer transition during GTP turnover.
Nature Communications
Deyaert, Egon E; Wauters, Lina L; Guaitoli, Giambattista G; Konijnenberg, Albert A; Leemans, Margaux M; Terheyden, Susanne S; Petrovic, Arsen A; Gallardo, Rodrigo R; Nederveen-Schippers, Laura M LM; Athanasopoulos, Panagiotis S PS; Pots, Henderikus H; Van Haastert, Peter J M PJM; Sobott, Frank F; Gloeckner, Christian Johannes CJ; Efremov, Rouslan R; Kortholt, Arjan A; Versées, Wim W
Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.
Molecular Neurodegeneration
Benitez, Bruno A BA; Davis, Albert A AA; Jin, Sheng Chih SC; Ibanez, Laura L; Ortega-Cubero, Sara S; Pastor, Pau P; Choi, Jiyoon J; Cooper, Breanna B; Perlmutter, Joel S JS; Cruchaga, Carlos C
Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.
Plos Genetics
de Voer, Richarda M RM; Hahn, Marc-Manuel MM; Weren, Robbert D A RD; Mensenkamp, Arjen R AR; Gilissen, Christian C; van Zelst-Stams, Wendy A WA; Spruijt, Liesbeth L; Kets, C Marleen CM; Zhang, Junxiao J; Venselaar, Hanka H; Vreede, Lilian L; Schubert, Nil N; Tychon, Marloes M; Derks, Ronny R; Schackert, Hans K HK; Geurts van Kessel, Ad A; Hoogerbrugge, Nicoline N; Ligtenberg, Marjolijn J L MJ; Kuiper, Roland P RP
Publication Date: 2016-02
Variant appearance in text: LRRK2: I1371V; rs17466213
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease.
Jama Neurology
Kalia, Lorraine V LV; Lang, Anthony E AE; Hazrati, Lili-Naz LN; Fujioka, Shinsuke S; Wszolek, Zbigniew K ZK; Dickson, Dennis W DW; Ross, Owen A OA; Van Deerlin, Vivianna M VM; Trojanowski, John Q JQ; Hurtig, Howard I HI; Alcalay, Roy N RN; Marder, Karen S KS; Clark, Lorraine N LN; Gaig, Carles C; Tolosa, Eduardo E; Ruiz-Martínez, Javier J; Marti-Masso, Jose F JF; Ferrer, Isidre I; López de Munain, Adolfo A; Goldman, Samuel M SM; Schüle, Birgitt B; Langston, J William JW; Aasly, Jan O JO; Giordana, Maria T MT; Bonifati, Vincenzo V; Puschmann, Andreas A; Canesi, Margherita M; Pezzoli, Gianni G; Maues De Paula, Andre A; Hasegawa, Kazuko K; Duyckaerts, Charles C; Brice, Alexis A; Stoessl, A Jon AJ; Marras, Connie C
Αlpha-synuclein levels in blood plasma from LRRK2 mutation carriers.
Plos One
Gorostidi, Ana A; Bergareche, Alberto A; Ruiz-Martínez, Javier J; Martí-Massó, José F JF; Cruz, María M; Varghese, Shiji S; Qureshi, Mohamed M MM; Alzahmi, Fatimah F; Al-Hayani, Abdulmonem A; López de Munáin, Adolfo A; El-Agnaf, Omar M A OM
Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.
Human Mutation
Rubio, Justin P JP; Topp, Simon S; Warren, Liling L; St Jean, Pamela L PL; Wegmann, Daniel D; Kessner, Darren D; Novembre, John J; Shen, Judong J; Fraser, Dana D; Aponte, Jennifer J; Nangle, Keith K; Cardon, Lon R LR; Ehm, Margaret G MG; Chissoe, Stephanie L SL; Whittaker, John C JC; Nelson, Matthew R MR; Mooser, Vincent E VE
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; ,
Publication Date: 2011-10
Variant appearance in text: LRRK2: I1371V; rs17466213
Loss of leucine-rich repeat kinase 2 causes impairment of protein degradation pathways, accumulation of alpha-synuclein, and apoptotic cell death in aged mice.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Tong, Youren Y; Yamaguchi, Hiroo H; Giaime, Emilie E; Boyle, Scott S; Kopan, Raphael R; Kelleher, Raymond J RJ; Shen, Jie J