LRRK2 c.6241A>G ;(p.N2081D)

Variant ID: 12-40740686-A-G

NM_198578.3(LRRK2):c.6241A>G;(p.N2081D)

This variant was identified in 68 publications

View GRCh38 version.




Publications:


LRRK2 Structure-Based Activation Mechanism and Pathogenesis.

Biomolecules
Zhang, Xiaojuan X; Kortholt, Arjan A
Publication Date: 2023-03-28

Variant appearance in text: LRRK2: N2081D
PubMed Link: 37189360
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00612.pdf
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Immunological Features of LRRK2 Function and Its Role in the Gut-Brain Axis Governing Parkinson's Disease.

Journal Of Parkinson'S Disease
Peter, Inga I; Strober, Warren W
Publication Date: 2023-04-10

Variant appearance in text: LRRK2: N2081D
PubMed Link: 37066923
Variant Present in the following documents:
  • Main text
  • jpd-13-jpd230021.pdf
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LRRK2 and Parkinson's disease: from genetics to targeted therapy.

Annals Of Clinical And Translational Neurology
Sosero, Yuri L YL; Gan-Or, Ziv Z
Publication Date: 2023-04-06

Variant appearance in text: LRRK2: N2081D
PubMed Link: 37021623
Variant Present in the following documents:
  • Main text
  • ACN3-10-850.pdf
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Are neurodegenerative diseases associated with an increased risk of inflammatory bowel disease? A two-sample Mendelian randomization study.

Frontiers In Immunology
Cui, Guanghui G; Li, Shaojie S; Ye, Hui H; Yang, Yao Y; Huang, Qiuyue Q; Chu, Yingming Y; Shi, Zongming Z; Zhang, Xuezhi X
Publication Date: 2022

Variant appearance in text: LRRK2: N2081D
PubMed Link: 36159838
Variant Present in the following documents:
  • Main text
  • fimmu-13-956005.pdf
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Structural Insights and Development of LRRK2 Inhibitors for Parkinson's Disease in the Last Decade.

Genes
Thakur, Gunjan G; Kumar, Vikas V; Lee, Keun Woo KW; Won, Chungkil C
Publication Date: 2022-08-11

Variant appearance in text: LRRK2: N2081D
PubMed Link: 36011337
Variant Present in the following documents:
  • Main text
  • genes-13-01426.pdf
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The LRRK2 signaling network converges on a centriolar phospho-Rab10/RILPL1 complex to cause deficits in centrosome cohesion and cell polarization.

Biology Open
Lara Ordóñez, Antonio Jesús AJ; Fasiczka, Rachel R; Fernández, Belén B; Naaldijk, Yahaira Y; Fdez, Elena E; Blanca Ramírez, Marian M; Phan, Sébastien S; Boassa, Daniela D; Hilfiker, Sabine S
Publication Date: 2022-08-15

Variant appearance in text: LRRK2: N2081D
PubMed Link: 35776681
Variant Present in the following documents:
  • Main text
  • biolopen-11-059468.pdf
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Exploration of the Common Gene Characteristics and Molecular Mechanism of Parkinson's Disease and Crohn's Disease from Transcriptome Data.

Brain Sciences
Zheng, Haoran H; Qian, Xiaohang X; Tian, Wotu W; Cao, Li L
Publication Date: 2022-06-13

Variant appearance in text: LRRK2: N2081D
PubMed Link: 35741659
Variant Present in the following documents:
  • Main text
  • brainsci-12-00774.pdf
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Whole Exome Sequencing Study in Isolated South-Eastern Moravia (Czechia) Population Indicates Heterogenous Genetic Background for Parkinsonism Development.

Frontiers In Neuroscience
Kolarikova, Kristyna K; Vodicka, Radek R; Vrtel, Radek R; Stellmachova, Julia J; Prochazka, Martin M; Mensikova, Katerina K; Kanovsky, Petr P
Publication Date: 2022

Variant appearance in text: LRRK2: 6241A>G; N2081D; rs33995883
PubMed Link: 35368288
Variant Present in the following documents:
  • Main text
  • fnins-16-817713.pdf
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Immunogenetic Determinants of Parkinson's Disease Etiology.

Journal Of Parkinson'S Disease
Kung, Pin-Jui PJ; Elsayed, Inas I; Reyes-Pérez, Paula P; Bandres-Ciga, Sara S
Publication Date: 2022

Variant appearance in text: LRRK2: N2081D
PubMed Link: 35367971
Variant Present in the following documents:
  • Main text
  • jpd-12-jpd223176.pdf
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Nanobodies as allosteric modulators of Parkinson's disease-associated LRRK2.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Singh, Ranjan K RK; Soliman, Ahmed A; Guaitoli, Giambattista G; Störmer, Eliza E; von Zweydorf, Felix F; Dal Maso, Thomas T; Oun, Asmaa A; Van Rillaer, Laura L; Schmidt, Sven H SH; Chatterjee, Deep D; David, Joshua A JA; Pardon, Els E; Schwartz, Thomas U TU; Knapp, Stefan S; Kennedy, Eileen J EJ; Steyaert, Jan J; Herberg, Friedrich W FW; Kortholt, Arjan A; Gloeckner, Christian Johannes CJ; Versées, Wim W
Publication Date: 2022-03-01

Variant appearance in text: LRRK2: N2081D
PubMed Link: 35217606
Variant Present in the following documents:
  • pnas.202112712.pdf
  • pnas.2112712119.sapp.pdf
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High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic.

Life (Basel, Switzerland)
Kolarikova, Kristyna K; Vodicka, Radek R; Vrtel, Radek R; Stellmachova, Julia J; Prochazka, Martin M; Mensikova, Katerina K; Bartonikova, Tereza T; Furst, Tomas T; Kanovsky, Petr P; Geryk, Jan J
Publication Date: 2022-01-14

Variant appearance in text: LRRK2: N2081D; rs33995883
PubMed Link: 35054514
Variant Present in the following documents:
  • Main text
  • life-12-00121.pdf
View BVdb publication page



High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic.

Life (Basel, Switzerland)
Kolarikova, Kristyna K; Vodicka, Radek R; Vrtel, Radek R; Stellmachova, Julia J; Prochazka, Martin M; Mensikova, Katerina K; Bartonikova, Tereza T; Furst, Tomas T; Kanovsky, Petr P; Geryk, Jan J
Publication Date: 2022-01-14

Variant appearance in text: LRRK2: N2081D; rs33995883
PubMed Link: 35054514
Variant Present in the following documents:
  • Main text
  • life-12-00121.pdf
View BVdb publication page



Genetic Variants Assessing Crohn's Disease Pattern in Pediatric Inflammatory Bowel Disease Patients by a Clinical Exome Survey.

Bioinformatics And Biology Insights
Noel, Dago Dougba DD; Marinella, Pinelli P; Mauro, Giacomelli G; Tripodi, Serena Ilaria SI; Pin, Alessia A; Serena, Arrigo A; Matteo, Bramuzzo B; Giuseppe, Fuoti Maurizio FM; Patrizia, Alvisi A; Stefano, Calza C; Tommasini, Alberto A; Raffaele, Badolato B
Publication Date: 2021

Variant appearance in text: LRRK2: N2081D; rs33995883
PubMed Link: 35002226
Variant Present in the following documents:
  • Main text
  • 10.1177_11779322211055285.pdf
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Intestinal Inflammation and Parkinson's Disease.

Aging And Disease
Li, Yu Y; Chen, Yuanyuan Y; Jiang, Lili L; Zhang, Jingyu J; Tong, Xuhui X; Chen, Dapeng D; Le, Weidong W
Publication Date: 2021-12

Variant appearance in text: LRRK2: N2081D; rs33995883
PubMed Link: 34881085
Variant Present in the following documents:
  • Main text
  • ad-12-8-2052.pdf
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Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases
Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E
Publication Date: 2021-12-08

Variant appearance in text: LRRK2: N2081D; rs33995883
PubMed Link: 34879060
Variant Present in the following documents:
  • pntd.0010029.s004.xlsx, sheet 1
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Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases
Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E
Publication Date: 2021-12

Variant appearance in text: LRRK2: N2081D; rs33995883
PubMed Link: 34879060
Variant Present in the following documents:
  • pntd.0010029.s004.xlsx, sheet 1
View BVdb publication page



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: N2081D; rs33995883
PubMed Link: 34542912
Variant Present in the following documents:
  • Main text
  • MDS-37-95-s003.xlsx, sheet 9
  • MDS-37-95-s003.xlsx, sheet 7
  • MDS-37-95-s003.xlsx, sheet 6
  • MDS-37-95-s003.xlsx, sheet 5
  • MDS-37-95-s003.xlsx, sheet 4
  • MDS-37-95-s003.xlsx, sheet 1
  • MDS-37-95-s003.xlsx, sheet 8
  • MDS-37-95.pdf
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Identify Inflammatory Bowel Disease-Related Genes Based on Machine Learning.

Frontiers In Cell And Developmental Biology
Ye, Lili L; Lin, Yongwei Y; Fan, Xing-di XD; Chen, Yaoming Y; Deng, Zengli Z; Yang, Qian Q; Lei, Xiaotian X; Mao, Jizong J; Cui, Chunhui C
Publication Date: 2021

Variant appearance in text: LRRK2: n2081d
PubMed Link: 34381790
Variant Present in the following documents:
  • Main text
  • fcell-09-722410.pdf
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The C-Terminal Domain of LRRK2 with the G2019S Substitution Increases Mutant A53T α-Synuclein Toxicity in Dopaminergic Neurons In Vivo.

International Journal Of Molecular Sciences
Cresto, Noémie N; Gardier, Camille C; Gaillard, Marie-Claude MC; Gubinelli, Francesco F; Roost, Pauline P; Molina, Daniela D; Josephine, Charlène C; Dufour, Noëlle N; Auregan, Gwenaëlle G; Guillermier, Martine M; Bernier, Suéva S; Jan, Caroline C; Gipchtein, Pauline P; Hantraye, Philippe P; Chartier-Harlin, Marie-Christine MC; Bonvento, Gilles G; Van Camp, Nadja N; Taymans, Jean-Marc JM; Cambon, Karine K; Liot, Géraldine G; Bemelmans, Alexis-Pierre AP; Brouillet, Emmanuel E
Publication Date: 2021-06-23

Variant appearance in text: LRRK2: N2081D
PubMed Link: 34201785
Variant Present in the following documents:
  • Main text
  • ijms-22-06760.pdf
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Understanding LRRK2 kinase activity in preclinical models and human subjects through quantitative analysis of LRRK2 and pT73 Rab10.

Scientific Reports
Wang, Xiang X; Negrou, Elvira E; Maloney, Michael T MT; Bondar, Vitaliy V VV; Andrews, Shan V SV; Montalban, Manuel M; Llapashtica, Ceyda C; Maciuca, Romeo R; Nguyen, Hoang H; Solanoy, Hilda H; Arguello, Annie A; Przybyla, Laralynne L; Moerke, Nathan J NJ; Huntwork-Rodriguez, Sarah S; Henry, Anastasia G AG
Publication Date: 2021-06-18

Variant appearance in text: LRRK2: N2081D
PubMed Link: 34145320
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_91943.pdf
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The role of mycobiota-genotype association in inflammatory bowel diseases: a narrative review.

Gut Pathogens
Mahmoudi, Elaheh E; Mozhgani, Sayed-Hamidreza SH; Sharifinejad, Niusha N
Publication Date: 2021-05-08

Variant appearance in text: LRRK2: N2081D
PubMed Link: 33964975
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mind the Gap: LRRK2 Phenotypes in the Clinic vs. in Patient Cells.

Cells
Goveas, Liesel L; Mutez, Eugénie E; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM
Publication Date: 2021-04-22

Variant appearance in text: LRRK2: N2081D
PubMed Link: 33922322
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: LRRK2: 6241A>G; N2081D; rs33995883
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 2
View BVdb publication page



Is LRRK2 the missing link between inflammatory bowel disease and Parkinson's disease?

Npj Parkinson'S Disease
Herrick, Mary K MK; Tansey, Malú G MG
Publication Date: 2021-03-09

Variant appearance in text: LRRK2: N2081D
PubMed Link: 33750819
Variant Present in the following documents:
  • Main text
  • 41531_2021_Article_170.pdf
View BVdb publication page



Inflammatory Diseases Among Norwegian LRRK2 Mutation Carriers. A 15-Years Follow-Up of a Cohort.

Frontiers In Neuroscience
Aasly, Jan O JO
Publication Date: 2021

Variant appearance in text: LRRK2: N2081D
PubMed Link: 33584195
Variant Present in the following documents:
  • Main text
  • fnins-15-634666.pdf
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The Cell Biology of LRRK2 in Parkinson's Disease.

Molecular And Cellular Biology
Usmani, Ahsan A; Shavarebi, Farbod F; Hiniker, Annie A
Publication Date: 2021-04-22

Variant appearance in text: LRRK2: N2081D
PubMed Link: 33526455
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

International Journal Of Molecular Sciences
Chittoor-Vinod, Vinita G VG; Nichols, R Jeremy RJ; Schüle, Birgitt B
Publication Date: 2021-01-21

Variant appearance in text: LRRK2: 6241A>G; N2081D; rs33995883
PubMed Link: 33494262
Variant Present in the following documents:
  • Main text
  • ijms-22-01045.pdf
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Neurodegeneration and Inflammation-An Interesting Interplay in Parkinson's Disease.

International Journal Of Molecular Sciences
Marogianni, Chrysoula C; Sokratous, Maria M; Dardiotis, Efthimios E; Hadjigeorgiou, Georgios M GM; Bogdanos, Dimitrios D; Xiromerisiou, Georgia G
Publication Date: 2020-11-10

Variant appearance in text: LRRK2: N2081D
PubMed Link: 33182554
Variant Present in the following documents:
  • Main text
View BVdb publication page



Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease.

Movement Disorders : Official Journal Of The Movement Disorder Society
Shadrin, Alexey A AA; Mucha, Sören S; Ellinghaus, David D; Makarious, Mary B MB; Blauwendraat, Cornelis C; Sreelatha, Ashwin A K AAK; Heras-Garvin, Antonio A; Ding, Jinhui J; Hammer, Monia M; Foubert-Samier, Alexandra A; Meissner, Wassilios G WG; Rascol, Olivier O; Pavy-Le Traon, Anne A; Frei, Oleksandr O; O'Connell, Kevin S KS; Bahrami, Shahram S; Schreiber, Stefan S; Lieb, Wolfgang W; Müller-Nurasyid, Martina M; Schminke, Ulf U; Homuth, Georg G; Schmidt, Carsten O CO; Nöthen, Markus M MM; Hoffmann, Per P; Gieger, Christian C; Wenning, Gregor G; , ; Gibbs, J Raphael JR; Franke, Andre A; Hardy, John J; Stefanova, Nadia N; Gasser, Thomas T; Singleton, Andrew A; Houlden, Henry H; Scholz, Sonja W SW; Andreassen, Ole A OA; Sharma, Manu M
Publication Date: 2021-02

Variant appearance in text: LRRK2: N2081D
PubMed Link: 33107653
Variant Present in the following documents:
  • Main text
  • nihms-1789384.pdf
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LRRK2 at the Interface Between Peripheral and Central Immune Function in Parkinson's.

Frontiers In Neuroscience
Wallings, Rebecca L RL; Herrick, Mary K MK; Tansey, Malú Gámez MG
Publication Date: 2020

Variant appearance in text: LRRK2: N2081D
PubMed Link: 32508566
Variant Present in the following documents:
  • Main text
  • fnins-14-00443.pdf
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Multiple-Hit Hypothesis in Parkinson's Disease: LRRK2 and Inflammation.

Frontiers In Neuroscience
Cabezudo, Diego D; Baekelandt, Veerle V; Lobbestael, Evy E
Publication Date: 2020

Variant appearance in text: LRRK2: N2081D
PubMed Link: 32410948
Variant Present in the following documents:
  • Main text
View BVdb publication page



An intestinal organoid-based platform that recreates susceptibility to T-cell-mediated tissue injury.

Blood
Matsuzawa-Ishimoto, Yu Y; Hine, Ashley A; Shono, Yusuke Y; Rudensky, Eugene E; Lazrak, Amina A; Yeung, Frank F; Neil, Jessica A JA; Yao, Xiaomin X; Chen, Ying-Han YH; Heaney, Thomas T; Schuster, Samantha L SL; Zwack, Erin E EE; Axelrad, Jordan E JE; Hudesman, David D; Tsai, Jennifer J JJ; Nichols, Katherine K; Dewan, M Zahidunnabi MZ; Cammer, Michael M; Beal, Allison A; Hoffman, Sandra S; Geddes, Brad B; Bertin, John J; Liu, Chen C; Torres, Victor J VJ; Loke, P'ng P; van den Brink, Marcel R M MRM; Cadwell, Ken K
Publication Date: 2020-06-25

Variant appearance in text: LRRK2: N2081D; rs33995883
PubMed Link: 32232483
Variant Present in the following documents:
  • Main text
View BVdb publication page



Leucine Rich Repeat Kinase 2 and Innate Immunity.

Frontiers In Neuroscience
Ahmadi Rastegar, Diba D; Dzamko, Nicolas N
Publication Date: 2020

Variant appearance in text: LRRK2: N2081D; rs33995883
PubMed Link: 32210756
Variant Present in the following documents:
  • Main text
  • fnins-14-00193.pdf
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Advances in elucidating the function of leucine-rich repeat protein kinase-2 in normal cells and Parkinson's disease.

Current Opinion In Cell Biology
Taylor, Matthew M; Alessi, Dario R DR
Publication Date: 2020-04

Variant appearance in text: LRRK2: N2081D
PubMed Link: 32036294
Variant Present in the following documents:
  • Main text
View BVdb publication page