Publications:

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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: R1398L

PubMed Link: 35776681

Variant Present in the following documents:

• Main text
• biolopen-11-059468-s1.pdf
• biolopen-11-059468.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: rs7133914

PubMed Link: 34542912

Variant Present in the following documents:

• 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

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LRRK2 Targeting Strategies as Potential Treatment of Parkinson's Disease.

Biomolecules

Wojewska, Dominika Natalia DN; Kortholt, Arjan A

Publication Date: 2021-07-26

Variant appearance in text: LRRK2: R1398L

PubMed Link: 34439767

Variant Present in the following documents:

• Main text
• biomolecules-11-01101.pdf

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Dopaminergic neurodegeneration induced by Parkinson's disease-linked G2019S LRRK2 is dependent on kinase and GTPase activity.

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

Nguyen, An Phu Tran APT; Tsika, Elpida E; Kelly, Kaela K; Levine, Nathan N; Chen, Xi X; West, Andrew B AB; Boularand, Sylviane S; Barneoud, Pascal P; Moore, Darren J DJ

Publication Date: 2020-07-21

Variant appearance in text: LRRK2: R1398L

PubMed Link: 32631998

Variant Present in the following documents:

• Main text
• pnas.201922184.pdf

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LRRK2 N551K and R1398H variants are protective in Malays and Chinese in Malaysia: A case-control association study for Parkinson's disease.

Molecular Genetics & Genomic Medicine

Gopalai, Aroma Agape AA; Lim, Jia Lun JL; Li, Hui-Hua HH; Zhao, Yi Y; Lim, Thien Thien TT; Eow, Gaik B GB; Puvanarajah, Santhi S; Viswanathan, Shanthi S; Norlinah, Mohamed Ibrahim MI; Abdul Aziz, Zariah Z; Lim, Soo Kun SK; Tan, Chong Tin CT; Tan, Ai Huey AH; Lim, Shen-Yang SY; Tan, Eng-King EK; Ahmad Annuar, Azlina A

Publication Date: 2019-11

Variant appearance in text: rs7133914

PubMed Link: 31487119

Variant Present in the following documents:

• Main text

View BVdb publication page

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Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.

Neuropsychiatric Disease And Treatment

Bagyinszky, Eva E; Kang, Min Ju MJ; Pyun, Jungmin J; Giau, Vo Van VV; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019

Variant appearance in text: rs7133914

PubMed Link: 31410005

Variant Present in the following documents:

• Main text

View BVdb publication page

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LRRK2 interacts with the vacuolar-type H+-ATPase pump a1 subunit to regulate lysosomal function.

Human Molecular Genetics

Wallings, Rebecca R; Connor-Robson, Natalie N; Wade-Martins, Richard R

Publication Date: 2019-08-15

Variant appearance in text: LRRK2: R1398L

PubMed Link: 31039583

Variant Present in the following documents:

• Main text
• ddz088.pdf

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Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Senanarong, Vorapun V; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-03-26

Variant appearance in text: rs7133914

PubMed Link: 30917570

Variant Present in the following documents:

• ijms-20-01514-s001.pdf

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Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.

Nature Communications

, ; Del-Toro, N N; Duesbury, M M; Koch, M M; Perfetto, L L; Shrivastava, A A; Ochoa, D D; Wagih, O O; Piñero, J J; Kotlyar, M M; Pastrello, C C; Beltrao, P P; Furlong, L I LI; Jurisica, I I; Hermjakob, H H; Orchard, S S; Porras, P P

Publication Date: 2019-01-02

Variant appearance in text: PARK8: R1398L

PubMed Link: 30602777

Variant Present in the following documents:

• 41467_2018_7709_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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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: R1398L

PubMed Link: 30592623

Variant Present in the following documents:

• Main text

View BVdb publication page

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Roco Proteins and the Parkinson's Disease-Associated LRRK2.

International Journal Of Molecular Sciences

Liao, Jingling J; Hoang, Quyen Q QQ

Publication Date: 2018-12-17

Variant appearance in text: LRRK2: R1398L

PubMed Link: 30562929

Variant Present in the following documents:

• Main text
• ijms-19-04074.pdf

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The Enzymatic Core of the Parkinson's Disease-Associated Protein LRRK2 Impairs Mitochondrial Biogenesis in Aging Yeast.

Frontiers In Molecular Neuroscience

Aufschnaiter, Andreas A; Kohler, Verena V; Walter, Corvin C; Tosal-Castano, Sergi S; Habernig, Lukas L; Wolinski, Heimo H; Keller, Walter W; Vögtle, F-Nora FN; Büttner, Sabrina S

Publication Date: 2018

Variant appearance in text: LRRK2: R1398L

PubMed Link: 29977190

Variant Present in the following documents:

• Main text
• fnmol-11-00205.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs7133914

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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GTP binding regulates cellular localization of Parkinson's disease-associated LRRK2.

Human Molecular Genetics

Blanca Ramírez, Marian M; Lara Ordóñez, Antonio Jesús AJ; Fdez, Elena E; Madero-Pérez, Jesús J; Gonnelli, Adriano A; Drouyer, Matthieu M; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM; Bubacco, Luigi L; Greggio, Elisa E; Hilfiker, Sabine S

Publication Date: 2017-07-15

Variant appearance in text: LRRK2: R1398L

PubMed Link: 28453723

Variant Present in the following documents:

• Main text
• ddx161.pdf

View BVdb publication page

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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: R1398L

PubMed Link: 28353279

Variant Present in the following documents:

• Main text

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Mechanisms of LRRK2-dependent neurodegeneration: role of enzymatic activity and protein aggregation.

Biochemical Society Transactions

Islam, Md Shariful MS; Moore, Darren J DJ

Publication Date: 2017-02-08

Variant appearance in text: LRRK2: R1398L

PubMed Link: 28202670

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole Exome Sequencing in Psoriasis Patients Contributes to Studies of Acitretin Treatment Difference.

International Journal Of Molecular Sciences

Zhou, Xingchen X; He, Yijing Y; Kuang, Yehong Y; Li, Jie J; Zhang, Jianglin J; Chen, Mingliang M; Chen, Wangqing W; Su, Juan J; Zhao, Shuang S; Liu, Panpan P; Chen, Menglin M; Shen, Minxue M; Chen, Xiaoping X; Zhu, Wu W; Chen, Xiang X

Publication Date: 2017-01-29

Variant appearance in text: rs7133914

PubMed Link: 28146080

Variant Present in the following documents:

• Main text
• ijms-18-00295.pdf

View BVdb publication page

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Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study.

Neurobiology Of Aging

Wang, Lisa L; Heckman, Michael G MG; Aasly, Jan O JO; Annesi, Grazia G; Bozi, Maria M; Chung, Sun Ju SJ; Clarke, Carl C; Crosiers, David D; Eckstein, Gertrud G; Garraux, Gaetan G; Hadjigeorgiou, Georgios M GM; Hattori, Nobu N; Jeon, Beom B; Kim, Yun J YJ; Kubo, Masato M; Lesage, Suzanne S; Lin, Juei Jueng JJ; Lynch, Timothy T; Lichtner, Peter P; Mellick, George D GD; Mok, Vincent V; Morrison, Karin E KE; Quattrone, Aldo A; Satake, Wataru W; Silburn, Peter A PA; Stefanis, Leonidas L; Stockton, Joanne D JD; Tan, Eng King EK; Toda, Tatsushi T; Brice, Alexis A; Van Broeckhoven, Christine C; Uitti, Ryan J RJ; Wirdefeldt, Karin K; Wszolek, Zbigniew Z; Xiromerisiou, Georgia G; Maraganore, Demetrius M DM; Gasser, Thomas T; Krüger, Rejko R; Farrer, Matthew J MJ; Ross, Owen A OA; Sharma, Manu M; ,

Publication Date: 2017-01

Variant appearance in text: rs7133914

PubMed Link: 27814993

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R1398L

PubMed Link: 27314038

Variant Present in the following documents:

• Main text
• BMRI2016-7917128.pdf

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Protective LRRK2 R1398H Variant Enhances GTPase and Wnt Signaling Activity.

Frontiers In Molecular Neuroscience

Nixon-Abell, Jonathon J; Berwick, Daniel C DC; Grannó, Simone S; Spain, Victoria A VA; Blackstone, Craig C; Harvey, Kirsten K

Publication Date: 2016

Variant appearance in text: LRRK2: R1398L

PubMed Link: 27013965

Variant Present in the following documents:

• Main text
• fnmol-09-00018.pdf

View BVdb publication page

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Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.

Genomics Data

John, Sumi Elsa SE; Thareja, Gaurav G; Hebbar, Prashantha P; Behbehani, Kazem K; Thanaraj, Thangavel Alphonse TA; Alsmadi, Osama O

Publication Date: 2015-03

Variant appearance in text: rs7133914

PubMed Link: 26484159

Variant Present in the following documents:

• Main text
• main.pdf

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The Parkinson's Disease-Associated Protein Kinase LRRK2 Modulates Notch Signaling through the Endosomal Pathway.

Plos Genetics

Imai, Yuzuru Y; Kobayashi, Yoshito Y; Inoshita, Tsuyoshi T; Meng, Hongrui H; Arano, Taku T; Uemura, Kengo K; Asano, Takeshi T; Yoshimi, Kenji K; Zhang, Chang-Liang CL; Matsumoto, Gen G; Ohtsuka, Toshiyuki T; Kageyama, Ryoichiro R; Kiyonari, Hiroshi H; Shioi, Go G; Nukina, Nobuyuki N; Hattori, Nobutaka N; Takahashi, Ryosuke R

Publication Date: 2015-09

Variant appearance in text: LRRK2: R1398L

PubMed Link: 26355680

Variant Present in the following documents:

• Main text

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Heterogeneity of leucine-rich repeat kinase 2 mutations: genetics, mechanisms and therapeutic implications.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics

Rudenko, Iakov N IN; Cookson, Mark R MR

Publication Date: 2014-10

Variant appearance in text: LRRK2: R1398L

PubMed Link: 24957201

Variant Present in the following documents:

• Main text

View BVdb publication page

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Contribution of GTPase activity to LRRK2-associated Parkinson disease.

Small Gtpases

Tsika, Elpida E; Moore, Darren J DJ

Publication Date: 2013

Variant appearance in text: LRRK2: R1398L

PubMed Link: 24025585

Variant Present in the following documents:

• Main text
• sgtp-4-164.pdf

View BVdb publication page

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Patient-control association study of the Leucine-Rich repeat kinase 2 (LRRK2) gene in South African Parkinson's disease patients.

Movement Disorders : Official Journal Of The Movement Disorder Society

Bardien, Soraya S; Blanckenberg, Janine J; van der Merwe, Lize L; Farrer, Matthew J MJ; Ross, Owen A OA

Publication Date: 2013-12

Variant appearance in text: rs7133914

PubMed Link: 24014121

Variant Present in the following documents:

• Main text

View BVdb publication page

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GTPase activity and neuronal toxicity of Parkinson's disease-associated LRRK2 is regulated by ArfGAP1.

Plos Genetics

Stafa, Klodjan K; Trancikova, Alzbeta A; Webber, Philip J PJ; Glauser, Liliane L; West, Andrew B AB; Moore, Darren J DJ

Publication Date: 2012

Variant appearance in text: LRRK2: R1398L

PubMed Link: 22363216

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: R1398L

PubMed Link: 21603132

Variant Present in the following documents:

• Main text
• PD2011-942412.pdf

View BVdb publication page

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GTPase activity plays a key role in the pathobiology of LRRK2.

Plos Genetics

Xiong, Yulan Y; Coombes, Candice E CE; Kilaru, Austin A; Li, Xiaojie X; Gitler, Aaron D AD; Bowers, William J WJ; Dawson, Valina L VL; Dawson, Ted M TM; Moore, Darren J DJ

Publication Date: 2010-04-08

Variant appearance in text: LRRK2: R1398L

PubMed Link: 20386743

Variant Present in the following documents:

• Main text

View BVdb publication page

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Parkinson's disease and low frequency alleles found together throughout LRRK2.

Annals Of Human Genetics

Paisán-Ruiz, Coro C; Washecka, Nicole N; Nath, Priti P; Singleton, Andrew B AB; Corder, Elizabeth H EH

Publication Date: 2009-07

Variant appearance in text: rs7133914

PubMed Link: 19489756

Variant Present in the following documents:

• Main text

View BVdb publication page

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Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.

Parkinsonism & Related Disorders

Ross, Owen A OA; Spanaki, Cleanthe C; Griffith, Alida A; Lin, Chin-Hsien CH; Kachergus, Jennifer J; Haugarvoll, Kristoffer K; Latsoudis, Helen H; Plaitakis, Andreas A; Ferreira, Joaquim J JJ; Sampaio, Cristina C; Bonifati, Vincenzo V; Wu, Ruey-Meei RM; Zabetian, Cyrus P CP; Farrer, Matthew J MJ

Publication Date: 2009-07

Variant appearance in text: rs7133914

PubMed Link: 18952485

Variant Present in the following documents:

• Main text

View BVdb publication page

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