Publications:

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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

Publication Date: 2022-09-16

Variant appearance in text: LRRK2: M1869T

PubMed Link: 35950872

Variant Present in the following documents:

• Main text
• BCJ-479-1759.pdf
• BCJ-479-1759-s1.pdf

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Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications

Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N

Publication Date: 2022-03-04

Variant appearance in text: LRRK2: M1869T

PubMed Link: 35246273

Variant Present in the following documents:

• Main text
• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2
• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
• 40478_2022_Article_1333.pdf

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Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma.

Nature Communications

Sun, Guangxi G; Chen, Junru J; Liang, Jiayu J; Yin, Xiaoxue X; Zhang, Mengni M; Yao, Jin J; He, Ning N; Armstrong, Cameron M CM; Zheng, Linmao L; Zhang, Xingming X; Zhu, Sha S; Sun, Xiaomeng X; Yang, Xiaoxia X; Zhao, Wanbin W; Liao, Banghua B; Pan, Xiuyi X; Nie, Ling L; Yang, Ling L; Chen, Yuntian Y; Zhao, Jinge J; Zhang, Haoran H; Dai, Jindong J; Shen, Yali Y; Liu, Jiyan J; Huang, Rui R; Liu, Jiandong J; Wang, Zhipeng Z; Ni, Yuchao Y; Wei, Qiang Q; Li, Xiang X; Zhou, Qiao Q; Huang, Haojie H; Liu, Zhenhua Z; Shen, Pengfei P; Chen, Ni N; Zeng, Hao H

Publication Date: 2021-09-06

Variant appearance in text: rs35602796

PubMed Link: 34489456

Variant Present in the following documents:

• 41467_2021_25618_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.

Movement Disorders : Official Journal Of The Movement Disorder Society

Bandres-Ciga, Sara S; Ahmed, Sarah S; Sabir, Marya S MS; Blauwendraat, Cornelis C; Adarmes-Gómez, Astrid D AD; Bernal-Bernal, Inmaculada I; Bonilla-Toribio, Marta M; Buiza-Rueda, Dolores D; Carrillo, Fátima F; Carrión-Claro, Mario M; Gómez-Garre, Pilar P; Jesús, Silvia S; Labrador-Espinosa, Miguel A MA; Macias, Daniel D; Méndez-Del-Barrio, Carlota C; Periñán-Tocino, Teresa T; Tejera-Parrado, Cristina C; Vargas-González, Laura L; Diez-Fairen, Monica M; Alvarez, Ignacio I; Tartari, Juan Pablo JP; Buongiorno, Mariateresa M; Aguilar, Miquel M; Gorostidi, Ana A; Bergareche, Jesús Alberto JA; Mondragon, Elisabet E; Vinagre-Aragon, Ana A; Croitoru, Ioana I; Ruiz-Martínez, Javier J; Dols-Icardo, Oriol O; Kulisevsky, Jaime J; Marín-Lahoz, Juan J; Pagonabarraga, Javier J; Pascual-Sedano, Berta B; Ezquerra, Mario M; Cámara, Ana A; Compta, Yaroslau Y; Fernández, Manel M; Fernández-Santiago, Rubén R; Muñoz, Esteban E; Tolosa, Eduard E; Valldeoriola, Francesc F; Gonzalez-Aramburu, Isabel I; Sanchez Rodriguez, Antonio A; Sierra, María M; Menéndez-González, Manuel M; Blazquez, Marta M; Garcia, Ciara C; Suarez-San Martin, Esther E; García-Ruiz, Pedro P; Martínez-Castrillo, Juan Carlos JC; Vela-Desojo, Lydia L; Ruz, Clara C; Barrero, Francisco Javier FJ; Escamilla-Sevilla, Francisco F; Mínguez-Castellanos, Adolfo A; Cerdan, Debora D; Tabernero, Cesar C; Gomez Heredia, Maria Jose MJ; Perez Errazquin, Francisco F; Romero-Acebal, Manolo M; Feliz, Cici C; Lopez-Sendon, Jose Luis JL; Mata, Marina M; Martínez Torres, Irene I; Kim, Jonggeol Jeffrey JJ; Dalgard, Clifton L CL; , ; Brooks, Janet J; Saez-Atienzar, Sara S; Gibbs, J Raphael JR; Jorda, Rafael R; Botia, Juan A JA; Bonet-Ponce, Luis L; Morrison, Karen E KE; Clarke, Carl C; Tan, Manuela M; Morris, Huw H; Edsall, Connor C; Hernandez, Dena D; Simon-Sanchez, Javier J; Nalls, Mike A MA; Scholz, Sonja W SW; Jimenez-Escrig, Adriano A; Duarte, Jacinto J; Vives, Francisco F; Duran, Raquel R; Hoenicka, Janet J; Alvarez, Victoria V; Infante, Jon J; Marti, Maria José MJ; Clarimón, Jordi J; López de Munain, Adolfo A; Pastor, Pau P; Mir, Pablo P; Singleton, Andrew A; ,

Publication Date: 2019-12

Variant appearance in text: LRRK2: Met1869Thr

PubMed Link: 31660654

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: PARK8: M1869T; rs35602796

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: LRRK2: M1869T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics

Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C

Publication Date: 2014-05

Variant appearance in text: LRRK2: M1869T

PubMed Link: 24705254

Variant Present in the following documents:

• NIHMS4215-supplement-10.xlsx, sheet 2

View BVdb publication page

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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: M1869T; rs35602796

PubMed Link: 21885347

Variant Present in the following documents:

• Main text

View BVdb publication page

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Models for LRRK2-Linked Parkinsonism.

Parkinson'S Disease

Li, Tianxia T; Yang, Dejun D; Sushchky, Sarah S; Liu, Zhaohui Z; Smith, Wanli W WW

Publication Date: 2011

Variant appearance in text: LRRK2: M1869T

PubMed Link: 21603132

Variant Present in the following documents:

• PD2011-942412.pdf

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Mutations in the LRRK2 Roc-COR tandem domain link Parkinson's disease to Wnt signalling pathways.

Human Molecular Genetics

Sancho, Rosa M RM; Law, Bernard M H BM; Harvey, Kirsten K

Publication Date: 2009-10-15

Variant appearance in text: LRRK2: M1869T

PubMed Link: 19625296

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: LRRK2: M1869T

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 2
• gkn1008_nar-01723-s-2008-File011.xls, sheet 2

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Leucine-rich repeat kinase 2 (LRRK2): a key player in the pathogenesis of Parkinson's disease.

Journal Of Neuroscience Research

Gandhi, Payal N PN; Chen, Shu G SG; Wilson-Delfosse, Amy L AL

Publication Date: 2009-05-01

Variant appearance in text: LRRK2: M1869T

PubMed Link: 19025767

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and pathological characteristics of patients with leucine-rich repeat kinase-2 mutations.

Movement Disorders : Official Journal Of The Movement Disorder Society

Covy, Jason P JP; Yuan, Wuxing W; Waxman, Elisa A EA; Hurtig, Howard I HI; Van Deerlin, Vivianna M VM; Giasson, Benoit I BI

Publication Date: 2009-01-15

Variant appearance in text: LRRK2: M1869T

PubMed Link: 19006185

Variant Present in the following documents:

• Main text

View BVdb publication page

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Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease.

Biochimica Et Biophysica Acta

Biskup, Saskia S; West, Andrew B AB

Publication Date: 2009-07

Variant appearance in text: LRRK2: M1869T

PubMed Link: 18973807

Variant Present in the following documents:

• Main text

View BVdb publication page

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Corticobasal syndrome and primary progressive aphasia as manifestations of LRRK2 gene mutations.

Neurology

Chen-Plotkin, A S AS; Yuan, W W; Anderson, C C; McCarty Wood, E E; Hurtig, H I HI; Clark, C M CM; Miller, B L BL; Lee, V M-Y VM; Trojanowski, J Q JQ; Grossman, M M; Van Deerlin, V M VM

Publication Date: 2008-02-12

Variant appearance in text: LRRK2: 5606T>C; M1869T

PubMed Link: 17914064

Variant Present in the following documents:

• Main text

View BVdb publication page

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LRRK2 expression in normal and pathologic human brain and in human cell lines.

Journal Of Neuropathology And Experimental Neurology

Miklossy, Judith J; Arai, Tetsuaki T; Guo, Jian-Ping JP; Klegeris, Andis A; Yu, Sheng S; McGeer, Edith G EG; McGeer, Patrick L PL

Publication Date: 2006-10

Variant appearance in text: PARK8: M1869T

PubMed Link: 17021400

Variant Present in the following documents:

• Main text
• 65-10-953.pdf

View BVdb publication page

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