Publications:

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Genetic variations in GBA1 and LRRK2 genes: Biochemical and clinical consequences in Parkinson disease.

Frontiers In Neurology

Smith, Laura J LJ; Lee, Chiao-Yin CY; Menozzi, Elisa E; Schapira, Anthony H V AHV

Publication Date: 2022

Variant appearance in text: LRRK2: Y2189C

PubMed Link: 36034282

Variant Present in the following documents:

• Main text
• fneur-13-971252.pdf

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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: Tyr2189Cys

PubMed Link: 35950872

Variant Present in the following documents:

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

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Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.

Journal Of Clinical Medicine

Segur-Bailach, Eulàlia E; Ugarteburu, Olatz O; Tort, Frederic F; Texido, Laura L; Painous, Celia C; Compta, Yaroslau Y; Martí, Maria José MJ; Ribes, Antonia A; Gort, Laura L

Publication Date: 2022-03-21

Variant appearance in text: LRRK2: 6566A>G; Tyr2189Cys

PubMed Link: 35330074

Variant Present in the following documents:

• jcm-11-01749.pdf

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Coding and Noncoding Variation in LRRK2 and Parkinson's Disease Risk.

Movement Disorders : Official Journal Of The Movement Disorder Society

Lake, Julie J; Reed, Xylena X; Langston, Rebekah G RG; Nalls, Mike A MA; Gan-Or, Ziv Z; Cookson, Mark R MR; Singleton, Andrew B AB; Blauwendraat, Cornelis C; Leonard, Hampton L HL; ,

Publication Date: 2022-01

Variant appearance in text: LRRK2: Y2189C

PubMed Link: 34542912

Variant Present in the following documents:

• Main text
• MDS-37-95.pdf

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Crystal structure of the WD40 domain dimer of LRRK2.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Zhang, Pengfei P; Fan, Ying Y; Ru, Heng H; Wang, Li L; Magupalli, Venkat Giri VG; Taylor, Susan S SS; Alessi, Dario R DR; Wu, Hao H

Publication Date: 2019-01-29

Variant appearance in text: LRRK2: Y2189C

PubMed Link: 30635421

Variant Present in the following documents:

• Main text
• pnas.201817889.pdf
• pnas.1817889116.sapp.pdf

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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

Publication Date: 2016-04-19

Variant appearance in text: LRRK2: Y2189C; rs35658131

PubMed Link: 27094865

Variant Present in the following documents:

• Main text
• 13024_2016_Article_97.pdf

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Evaluating LRRK2 genetic variants with unclear pathogenicity.

Biomed Research International

Refai, Fathima Shaffra FS; Ng, Shin Hui SH; Tan, Eng-King EK

Publication Date: 2015

Variant appearance in text: LRRK2: Y2189C

PubMed Link: 25821816

Variant Present in the following documents:

• Main text
• BMRI2015-678701.pdf

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Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.

Nature Genetics

Rivas, Manuel A MA; Beaudoin, Mélissa M; Gardet, Agnes A; Stevens, Christine C; Sharma, Yashoda Y; Zhang, Clarence K CK; Boucher, Gabrielle G; Ripke, Stephan S; Ellinghaus, David D; Burtt, Noel N; Fennell, Tim T; Kirby, Andrew A; Latiano, Anna A; Goyette, Philippe P; Green, Todd T; Halfvarson, Jonas J; Haritunians, Talin T; Korn, Joshua M JM; Kuruvilla, Finny F; Lagacé, Caroline C; Neale, Benjamin B; Lo, Ken Sin KS; Schumm, Phil P; Törkvist, Leif L; , ; , ; , ; Dubinsky, Marla C MC; Brant, Steven R SR; Silverberg, Mark S MS; Duerr, Richard H RH; Altshuler, David D; Gabriel, Stacey S; Lettre, Guillaume G; Franke, Andre A; D'Amato, Mauro M; McGovern, Dermot P B DP; Cho, Judy H JH; Rioux, John D JD; Xavier, Ramnik J RJ; Daly, Mark J MJ

Publication Date: 2011-10-09

Variant appearance in text: LRRK2: Tyr2189Cys; rs35658131

PubMed Link: 21983784

Variant Present in the following documents:

• NIHMS335188-supplement-1.pdf

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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: Y2189C; rs35658131

PubMed Link: 21885347

Variant Present in the following documents:

• Main text

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Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Human Mutation

Nuytemans, Karen K; Theuns, Jessie J; Cruts, Marc M; Van Broeckhoven, Christine C

Publication Date: 2010-07

Variant appearance in text: LRRK2: 6566A>G; Y2189C; rs35658131

PubMed Link: 20506312

Variant Present in the following documents:

• humu0031-0763-SD1.pdf

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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: Y2189C

PubMed Link: 18973807

Variant Present in the following documents:

• Main text

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