LRRK2 c.4111A>G ;(p.I1371V)

Variant ID: 12-40702420-A-G

NM_198578.3(LRRK2):c.4111A>G;(p.I1371V)

This variant was identified in 50 publications

View GRCh38 version.




Publications:


Overview of the Impact of Pathogenic LRRK2 Mutations in Parkinson's Disease.

Biomolecules
Ito, Genta G; Utsunomiya-Tate, Naoko N
Publication Date: 2023-05-16

Variant appearance in text: LRRK2: I1371V
PubMed Link: 37238714
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00845.pdf
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LRRK2 Structure-Based Activation Mechanism and Pathogenesis.

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

Variant appearance in text: LRRK2: I1371V
PubMed Link: 37189360
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00612.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: I1371V
PubMed Link: 37021623
Variant Present in the following documents:
  • Main text
  • ACN3-10-850.pdf
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A multiplex pedigree with pathologically confirmed multiple system atrophy and Parkinson's disease with dementia.

Brain Communications
Fanciulli, Alessandra A; Leys, Fabian F; Lehner, Fabienne F; Sidoroff, Victoria V; Ruf, Viktoria C VC; Raccagni, Cecilia C; Mahlknecht, Philipp P; Kuipers, Demy J S DJS; van IJcken, Wilfred F J WFJ; Stockner, Heike H; Musacchio, Thomas T; Volkmann, Jens J; Monoranu, Camelia Maria CM; Stankovic, Iva I; Breedveld, Guido G; Ferraro, Federico F; Fevga, Christina C; Windl, Otto O; Herms, Jochen J; Kiechl, Stefan S; Poewe, Werner W; Seppi, Klaus K; Stefanova, Nadia N; Scholz, Sonja W SW; Bonifati, Vincenzo V; Wenning, Gregor K GK
Publication Date: 2022

Variant appearance in text: LRRK2: Ile1371Val
PubMed Link: 35855480
Variant Present in the following documents:
  • fcac175.pdf
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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
Publication Date: 2022-03-22

Variant appearance in text: LRRK2: I1371V
PubMed Link: 35294277
Variant Present in the following documents:
  • pnas.202111405.pdf
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Pharmacological Modulation of Nrf2/HO-1 Signaling Pathway as a Therapeutic Target of Parkinson's Disease.

Frontiers In Pharmacology
Wang, Yumin Y; Gao, Luyan L; Chen, Jichao J; Li, Qiang Q; Huo, Liang L; Wang, Yanchao Y; Wang, Hongquan H; Du, Jichen J
Publication Date: 2021

Variant appearance in text: LRRK2: I1371V
PubMed Link: 34887759
Variant Present in the following documents:
  • Main text
  • fphar-12-757161.pdf
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A historical review of multiple system atrophy with a critical appraisal of cellular and animal models.

Journal Of Neural Transmission (Vienna, Austria : 1996)
Marmion, David J DJ; Peelaerts, Wouter W; Kordower, Jeffrey H JH
Publication Date: 2021-10

Variant appearance in text: LRRK2: Ile1371Val
PubMed Link: 34613484
Variant Present in the following documents:
  • 702_2021_Article_2419.pdf
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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: 4111A>G; I1371V; rs17466213
PubMed Link: 33494262
Variant Present in the following documents:
  • Main text
  • ijms-22-01045.pdf
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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
Publication Date: 2020-09-04

Variant appearance in text: LRRK2: I1371V
PubMed Link: 32887585
Variant Present in the following documents:
  • 12929_2020_682_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Long-Term Outcomes of Genetic Parkinson's Disease.

Journal Of Movement Disorders
Aasly, Jan O JO
Publication Date: 2020-05

Variant appearance in text: LRRK2: I1371V
PubMed Link: 32498494
Variant Present in the following documents:
  • jmd-19080.pdf
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Relationship of Cerebrospinal Fluid Vitamin B12 Status Markers With Parkinson's Disease Progression.

Movement Disorders : Official Journal Of The Movement Disorder Society
Christine, Chadwick W CW; Auinger, Peggy P; Saleh, Nasrin N; Tian, Miao M; Bottiglieri, Teodoro T; Arning, Erland E; Tran, Nam K NK; Ueland, Per Magne PM; Green, Ralph R; ,
Publication Date: 2020-08

Variant appearance in text: LRRK2: Ile1371Val
PubMed Link: 32407590
Variant Present in the following documents:
  • MDS-35-1466.pdf
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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: LRRK2: 4111A>G; Ile1371Val; rs17466213
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
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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
Publication Date: 2020-04-17

Variant appearance in text: LRRK2: I1371V
PubMed Link: 32167135
Variant Present in the following documents:
  • Main text
  • BCJ-477-1203.pdf
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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
Lin, Chin-Hsien CH; Chen, Pei-Lung PL; Tai, Chun-Hwei CH; Lin, Hang-I HI; Chen, Chih-Shan CS; Chen, Meng-Ling ML; Wu, Ruey-Meei RM
Publication Date: 2019-04

Variant appearance in text: LRRK2: I1371V
PubMed Link: 30788857
Variant Present in the following documents:
  • Main text
  • MDS-34-506.pdf
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The Parkinson's disease-associated mutation N1437H impairs conformational dynamics in the G domain of LRRK2.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Huang, Xiaorong X; Wu, Chunxiang C; Park, Yangshin Y; Long, Xuwei X; Hoang, Quyen Q QQ; Liao, Jingling J
Publication Date: 2019-04

Variant appearance in text: LRRK2: I1371V
PubMed Link: 30592623
Variant Present in the following documents:
  • Main text
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LRRK 2 gene mutations in the pathophysiology of the ROCO domain and therapeutic targets for Parkinson's disease: a review.

Journal Of Biomedical Science
Chen, Meng-Ling ML; Wu, Ruey-Meei RM
Publication Date: 2018-06-14

Variant appearance in text: LRRK2: I1371V
PubMed Link: 29903014
Variant Present in the following documents:
  • Main text
  • 12929_2018_Article_454.pdf
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Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Movement Disorders : Official Journal Of The Movement Disorder Society
Schneider, Susanne A SA; Alcalay, Roy N RN
Publication Date: 2017-11

Variant appearance in text: LRRK2: I1371V
PubMed Link: 29124790
Variant Present in the following documents:
  • Main text
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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
Publication Date: 2017-10-18

Variant appearance in text: LRRK2: I1371V
PubMed Link: 29044096
Variant Present in the following documents:
  • Main text
  • 41467_2017_Article_1103.pdf
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Embryonic signature distinguishes pediatric and adult rhabdoid tumors from other SMARCB1-deficient cancers.

Oncotarget
Richer, Wilfrid W; Masliah-Planchon, Julien J; Clement, Nathalie N; Jimenez, Irene I; Maillot, Laetitia L; Gentien, David D; Albaud, Benoît B; Chemlali, Walid W; Galant, Christine C; Larousserie, Frederique F; Boudou-Rouquette, Pascaline P; Leruste, Amaury A; Chauvin, Celine C; Han, Zhi Yan ZY; Coindre, Jean-Michel JM; Varlet, Pascale P; Freneaux, Paul P; Ranchère-Vince, Dominique D; Delattre, Olivier O; Bourdeaut, Franck F
Publication Date: 2017-05-23

Variant appearance in text: LRRK2: I1371V
PubMed Link: 28427232
Variant Present in the following documents:
  • oncotarget-08-34245-s004.xlsx, sheet 1
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Understanding the GTPase Activity of LRRK2: Regulation, Function, and Neurotoxicity.

Advances In Neurobiology
Nguyen, An Phu Tran AP; Moore, Darren J DJ
Publication Date: 2017

Variant appearance in text: LRRK2: I1371V
PubMed Link: 28353279
Variant Present in the following documents:
  • Main text
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G2385R and I2020T Mutations Increase LRRK2 GTPase Activity.

Biomed Research International
Ho, Dong Hwan DH; Jang, Jihoon J; Joe, Eun-Hye EH; Son, Ilhong I; Seo, Hyemyung H; Seol, Wongi W
Publication Date: 2016

Variant appearance in text: LRRK2: I1371V
PubMed Link: 27314038
Variant Present in the following documents:
  • Main text
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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: I1371V
PubMed Link: 27094865
Variant Present in the following documents:
  • Main text
  • 13024_2016_Article_97.pdf
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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
PubMed Link: 26901136
Variant Present in the following documents:
  • pgen.1005880.s003.xlsx, sheet 1
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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: I1371V; rs17466213
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: I1371V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



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
Publication Date: 2015

Variant appearance in text: rs17466213
PubMed Link: 25807536
Variant Present in the following documents:
  • pone.0121644.s002.xls, sheet 1
View BVdb publication page



Phosphatases of α-synuclein, LRRK2, and tau: important players in the phosphorylation-dependent pathology of Parkinsonism.

Frontiers In Genetics
Taymans, Jean-Marc JM; Baekelandt, Veerle V
Publication Date: 2014

Variant appearance in text: LRRK2: I1371V
PubMed Link: 25426138
Variant Present in the following documents:
  • Main text
  • fgene-05-00382.pdf
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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
Publication Date: 2015-01

Variant appearance in text: LRRK2: I1371V
PubMed Link: 25401511
Variant Present in the following documents:
  • Main text
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Genetic, structural, and molecular insights into the function of ras of complex proteins domains.

Chemistry & Biology
Civiero, Laura L; Dihanich, Sybille S; Lewis, Patrick A PA; Greggio, Elisa E
Publication Date: 2014-07-17

Variant appearance in text: LRRK2: I1371V
PubMed Link: 24981771
Variant Present in the following documents:
  • Main text
  • main.pdf
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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
Publication Date: 2012

Variant appearance in text: LRRK2: Ile1371Val
PubMed Link: 23300640
Variant Present in the following documents:
  • pone.0052312.pdf
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LRRK2 GTPase dysfunction in the pathogenesis of Parkinson's disease.

Biochemical Society Transactions
Xiong, Yulan Y; Dawson, Valina L VL; Dawson, Ted M TM
Publication Date: 2012-10

Variant appearance in text: LRRK2: I1371V
PubMed Link: 22988868
Variant Present in the following documents:
  • Main text
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Small molecule kinase inhibitors for LRRK2 and their application to Parkinson's disease models.

Acs Chemical Neuroscience
Kramer, Thomas T; Lo Monte, Fabio F; Göring, Stefan S; Okala Amombo, Ghislaine Marlyse GM; Schmidt, Boris B
Publication Date: 2012-03-21

Variant appearance in text: LRRK2: I1371V
PubMed Link: 22860184
Variant Present in the following documents:
  • Main text
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Leucine-rich repeat kinase 2 (LRRK2) as a potential therapeutic target in Parkinson's disease.

Trends In Pharmacological Sciences
Lee, Byoung Dae BD; Dawson, Valina L VL; Dawson, Ted M TM
Publication Date: 2012-07

Variant appearance in text: LRRK2: I1371V
PubMed Link: 22578536
Variant Present in the following documents:
  • Main text
View BVdb publication page



The neuropathology of genetic Parkinson's disease.

Movement Disorders : Official Journal Of The Movement Disorder Society
Poulopoulos, Markos M; Levy, Oren A OA; Alcalay, Roy N RN
Publication Date: 2012-06

Variant appearance in text: LRRK2: I1371V
PubMed Link: 22451330
Variant Present in the following documents:
  • Main text
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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
Publication Date: 2012-07

Variant appearance in text: LRRK2: Ile1371Val
PubMed Link: 22415848
Variant Present in the following documents:
  • Main text
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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: I1371V; rs17466213
PubMed Link: 21885347
Variant Present in the following documents:
  • Main text
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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: I1371V
PubMed Link: 21603132
Variant Present in the following documents:
  • Main text
  • PD2011-942412.pdf
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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
Publication Date: 2010-05-25

Variant appearance in text: LRRK2: I1371V
PubMed Link: 20457918
Variant Present in the following documents:
  • Main text
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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: I1371V
PubMed Link: 19625296
Variant Present in the following documents:
  • Main text
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Leucine-rich repeat kinase 2 mutations and Parkinson's disease: three questions.

Asn Neuro
Greggio, Elisa E; Cookson, Mark R MR
Publication Date: 2009-04-14

Variant appearance in text: LRRK2: I1371V
PubMed Link: 19570025
Variant Present in the following documents:
  • Main text
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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: I1371V
PubMed Link: 19025767
Variant Present in the following documents:
  • Main text
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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: I1371V
PubMed Link: 18973807
Variant Present in the following documents:
  • Main text
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Familial parkinsonism: study of original Sagamihara PARK8 (I2020T) kindred with variable clinicopathologic outcomes.

Parkinsonism & Related Disorders
Hasegawa, Kazuko K; Stoessl, A Jon AJ; Yokoyama, Teruo T; Kowa, Hisayuki H; Wszolek, Zbigniew K ZK; Yagishita, Saburo S
Publication Date: 2009-05

Variant appearance in text: LRRK2: Ile1371Val
PubMed Link: 18804399
Variant Present in the following documents:
  • Main text
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Genetic neuropathology of Parkinson's disease.

International Journal Of Clinical And Experimental Pathology
Cookson, Mark R MR; Hardy, John J; Lewis, Patrick A PA
Publication Date: 2008-01-01

Variant appearance in text: LRRK2: I1371V
PubMed Link: 18784814
Variant Present in the following documents:
  • Main text
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LRRK2 gene G2019S mutation and SNPs [haplotypes] in subtypes of Parkinson's disease.

Parkinsonism & Related Disorders
Patra, Biswanath B; Parsian, Azemat J AJ; Racette, Brad A BA; Zhao, Jing Hua JH; Perlmutter, Joel S JS; Parsian, Abbas A
Publication Date: 2009-03

Variant appearance in text: LRRK2: I1371V
PubMed Link: 18752982
Variant Present in the following documents:
  • Main text
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Structure of the Roc-COR domain tandem of C. tepidum, a prokaryotic homologue of the human LRRK2 Parkinson kinase.

The Embo Journal
Gotthardt, Katja K; Weyand, Michael M; Kortholt, Arjan A; Van Haastert, Peter J M PJ; Wittinghofer, Alfred A
Publication Date: 2008-08-20

Variant appearance in text: LRRK2: I1371V
PubMed Link: 18650931
Variant Present in the following documents:
  • Main text
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Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.

American Journal Of Human Genetics
Lautier, Corinne C; Goldwurm, Stefano S; Dürr, Alexandra A; Giovannone, Barbara B; Tsiaras, William G WG; Pezzoli, Gianni G; Brice, Alexis A; Smith, Robert J RJ
Publication Date: 2008-04

Variant appearance in text: LRRK2: Ile1371Val
PubMed Link: 18358451
Variant Present in the following documents:
  • Main text
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Structure of the ROC domain from the Parkinson's disease-associated leucine-rich repeat kinase 2 reveals a dimeric GTPase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Deng, Junpeng J; Lewis, Patrick A PA; Greggio, Elisa E; Sluch, Eli E; Beilina, Alexandra A; Cookson, Mark R MR
Publication Date: 2008-02-05

Variant appearance in text: LRRK2: I1371V
PubMed Link: 18230735
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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: I1371V
PubMed Link: 17021400
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  • 65-10-953.pdf
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