LRRK2 c.4039_4040delinsGC ;(p.K1347A)

Variant ID: 12-40702348-AA-GC

NM_198578.3(LRRK2):c.4039_4040delinsGC;(p.K1347A)

This variant was identified in 49 publications

View GRCh38 version.




Publications:


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: K1347A
PubMed Link: 34439767
Variant Present in the following documents:
  • Main text
  • biomolecules-11-01101.pdf
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Caenorhabditis elegans as a model system for studying aging-associated neurodegenerative diseases.

Translational Medicine Of Aging
Van Pelt, Kate M KM; Truttmann, Matthias C MC
Publication Date: 2020

Variant appearance in text: LRRK2: K1347A
PubMed Link: 34327290
Variant Present in the following documents:
  • Main text
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Pathological Functions of LRRK2 in Parkinson's Disease.

Cells
Jeong, Ga Ram GR; Lee, Byoung Dae BD
Publication Date: 2020-11-30

Variant appearance in text: LRRK2: K1347A
PubMed Link: 33266247
Variant Present in the following documents:
  • Main text
  • cells-09-02565.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: K1347A
PubMed Link: 32631998
Variant Present in the following documents:
  • Main text
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LRRK2 Phosphorylation, More Than an Epiphenomenon.

Frontiers In Neuroscience
Marchand, Antoine A; Drouyer, Matthieu M; Sarchione, Alessia A; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM
Publication Date: 2020

Variant appearance in text: LRRK2: K1347A
PubMed Link: 32612495
Variant Present in the following documents:
  • Main text
  • fnins-14-00527.pdf
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Sequential screening nominates the Parkinson's disease associated kinase LRRK2 as a regulator of Clathrin-mediated endocytosis.

Neurobiology Of Disease
Heaton, George R GR; Landeck, Natalie N; Mamais, Adamantios A; Nalls, Mike A MA; Nixon-Abell, Jonathon J; Kumaran, Ravindran R; Beilina, Alexandra A; Pellegrini, Laura L; Li, Yan Y; , ; Harvey, Kirsten K; Cookson, Mark R MR
Publication Date: 2020-07

Variant appearance in text: LRRK2: K1347A
PubMed Link: 32434048
Variant Present in the following documents:
  • Main text
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GTP-binding inhibitors increase LRRK2-linked ubiquitination and Lewy body-like inclusions.

Journal Of Cellular Physiology
Thomas, Joseph M JM; Wang, Xiaobo X; Guo, Gongbo G; Li, Tianxia T; Dai, Bingling B; Nucifora, Leslie G LG; Nucifora, Frederick C FC; Liu, Zhaohui Z; Xue, Fengtian F; Liu, Chunfeng C; Ross, Christopher A CA; Smith, Wanli W WW
Publication Date: 2020-10

Variant appearance in text: LRRK2: K1347A
PubMed Link: 32180220
Variant Present in the following documents:
  • Main text
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LRRK2 regulation of immune-pathways and inflammatory disease.

Biochemical Society Transactions
Wallings, Rebecca L RL; Tansey, Malú G MG
Publication Date: 2019-12-20

Variant appearance in text: LRRK2: K1347A
PubMed Link: 31769472
Variant Present in the following documents:
  • Main text
  • BST-47-1581.pdf
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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: K1347A
PubMed Link: 30562929
Variant Present in the following documents:
  • Main text
  • ijms-19-04074.pdf
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Differences in Stability, Activity and Mutation Effects Between Human and Mouse Leucine-Rich Repeat Kinase 2.

Neurochemical Research
Langston, Rebekah G RG; Rudenko, Iakov N IN; Kumaran, Ravindran R; Hauser, David N DN; Kaganovich, Alice A; Ponce, Luis Bonet LB; Mamais, Adamantios A; Ndukwe, Kelechi K; Dillman, Allissa A AA; Al-Saif, Amr M AM; Beilina, Aleksandra A; Cookson, Mark R MR
Publication Date: 2019-06

Variant appearance in text: LRRK2: K1347A
PubMed Link: 30291536
Variant Present in the following documents:
  • Main text
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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: K1347A
PubMed Link: 28453723
Variant Present in the following documents:
  • Main text
  • ddx161.pdf
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Models of LRRK2-Associated Parkinson's Disease.

Advances In Neurobiology
Xiong, Yulan Y; Dawson, Ted M TM; Dawson, Valina L VL
Publication Date: 2017

Variant appearance in text: LRRK2: K1347A
PubMed Link: 28353284
Variant Present in the following documents:
  • Main text
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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: K1347A
PubMed Link: 28353279
Variant Present in the following documents:
  • Main text
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Role and mechanism of action of leucine-rich repeat kinase 1 in bone.

Bone Research
Xing, Weirong R WR; Goodluck, Helen H; Zeng, Canjun C; Mohan, Subburaman S
Publication Date: 2017

Variant appearance in text: LRRK2: K1347A
PubMed Link: 28326224
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: K1347A
PubMed Link: 28202670
Variant Present in the following documents:
  • Main text
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Pathogenic LRRK2 variants are gain-of-function mutations that enhance LRRK2-mediated repression of β-catenin signaling.

Molecular Neurodegeneration
Berwick, Daniel C DC; Javaheri, Behzad B; Wetzel, Andrea A; Hopkinson, Mark M; Nixon-Abell, Jonathon J; Grannò, Simone S; Pitsillides, Andrew A AA; Harvey, Kirsten K
Publication Date: 2017-01-19

Variant appearance in text: LRRK2: K1347A
PubMed Link: 28103901
Variant Present in the following documents:
  • Main text
  • 13024_2017_Article_153.pdf
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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: K1347A
PubMed Link: 27314038
Variant Present in the following documents:
  • Main text
  • BMRI2016-7917128.pdf
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The function of orthologues of the human Parkinson's disease gene LRRK2 across species: implications for disease modelling in preclinical research.

The Biochemical Journal
Langston, Rebekah G RG; Rudenko, Iakov N IN; Cookson, Mark R MR
Publication Date: 2016-02-01

Variant appearance in text: LRRK2: K1347A
PubMed Link: 26811536
Variant Present in the following documents:
  • Main text
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Using C. elegans to discover therapeutic compounds for ageing-associated neurodegenerative diseases.

Chemistry Central Journal
Chen, Xi X; Barclay, Jeff W JW; Burgoyne, Robert D RD; Morgan, Alan A
Publication Date: 2015

Variant appearance in text: LRRK2: K1347A
PubMed Link: 26617668
Variant Present in the following documents:
  • Main text
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A novel GTP-binding inhibitor, FX2149, attenuates LRRK2 toxicity in Parkinson's disease models.

Plos One
Li, Tianxia T; He, Xinhua X; Thomas, Joseph M JM; Yang, Dejun D; Zhong, Shijun S; Xue, Fengtian F; Smith, Wanli W WW
Publication Date: 2015

Variant appearance in text: LRRK2: K1347A
PubMed Link: 25816252
Variant Present in the following documents:
  • Main text
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Phosphorylation of LRRK2 by casein kinase 1α regulates trans-Golgi clustering via differential interaction with ARHGEF7.

Nature Communications
Chia, Ruth R; Haddock, Sara S; Beilina, Alexandra A; Rudenko, Iakov N IN; Mamais, Adamantios A; Kaganovich, Alice A; Li, Yan Y; Kumaran, Ravindran R; Nalls, Michael A MA; Cookson, Mark R MR
Publication Date: 2014-12-15

Variant appearance in text: LRRK2: K1347A
PubMed Link: 25500533
Variant Present in the following documents:
  • NIHMS641836-supplement-1.pdf
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Leucine-rich repeat kinase 2 regulates Sec16A at ER exit sites to allow ER-Golgi export.

The Embo Journal
Cho, Hyun Jin HJ; Yu, Jia J; Xie, Chengsong C; Rudrabhatla, Parvathi P; Chen, Xi X; Wu, Junbing J; Parisiadou, Loukia L; Liu, Guoxiang G; Sun, Lixin L; Ma, Bo B; Ding, Jinhui J; Liu, Zhihua Z; Cai, Huaibin H
Publication Date: 2014-10-16

Variant appearance in text: LRRK2: K1347A
PubMed Link: 25201882
Variant Present in the following documents:
  • Main text
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Arsenite stress down-regulates phosphorylation and 14-3-3 binding of leucine-rich repeat kinase 2 (LRRK2), promoting self-association and cellular redistribution.

The Journal Of Biological Chemistry
Mamais, Adamantios A; Chia, Ruth R; Beilina, Alexandra A; Hauser, David N DN; Hall, Christine C; Lewis, Patrick A PA; Cookson, Mark R MR; Bandopadhyay, Rina R
Publication Date: 2014-08-01

Variant appearance in text: LRRK2: K1347A
PubMed Link: 24942733
Variant Present in the following documents:
  • Main text
  • zbc21386.pdf
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Leucine-rich repeat kinase 2-linked Parkinson's disease: clinical and molecular findings.

Journal Of Movement Disorders
Kumari, Udhaya U; Tan, Eng-King EK
Publication Date: 2010-10

Variant appearance in text: LRRK2: K1347A
PubMed Link: 24868377
Variant Present in the following documents:
  • Main text
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A Parkinson's disease gene regulatory network identifies the signaling protein RGS2 as a modulator of LRRK2 activity and neuronal toxicity.

Human Molecular Genetics
Dusonchet, Julien J; Li, Hu H; Guillily, Maria M; Liu, Min M; Stafa, Klodjan K; Derada Troletti, Claudio C; Boon, Joon Y JY; Saha, Shamol S; Glauser, Liliane L; Mamais, Adamantios A; Citro, Allison A; Youmans, Katherine L KL; Liu, LiQun L; Schneider, Bernard L BL; Aebischer, Patrick P; Yue, Zhenyu Z; Bandopadhyay, Rina R; Glicksman, Marcie A MA; Moore, Darren J DJ; Collins, James J JJ; Wolozin, Benjamin B
Publication Date: 2014-09-15

Variant appearance in text: LRRK2: K1347A
PubMed Link: 24794857
Variant Present in the following documents:
  • Main text
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A direct interaction between leucine-rich repeat kinase 2 and specific β-tubulin isoforms regulates tubulin acetylation.

The Journal Of Biological Chemistry
Law, Bernard M H BM; Spain, Victoria A VA; Leinster, Veronica H L VH; Chia, Ruth R; Beilina, Alexandra A; Cho, Hyun J HJ; Taymans, Jean-Marc JM; Urban, Mary K MK; Sancho, Rosa M RM; Blanca Ramírez, Marian M; Biskup, Saskia S; Baekelandt, Veerle V; Cai, Huaibin H; Cookson, Mark R MR; Berwick, Daniel C DC; Harvey, Kirsten K
Publication Date: 2014-01-10

Variant appearance in text: LRRK2: K1347A
PubMed Link: 24275654
Variant Present in the following documents:
  • Main text
  • zbc895.pdf
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ERKed by LRRK2: a cell biological perspective on hereditary and sporadic Parkinson's disease.

Biochimica Et Biophysica Acta
Verma, Manish M; Steer, Erin K EK; Chu, Charleen T CT
Publication Date: 2014-08

Variant appearance in text: LRRK2: K1347A
PubMed Link: 24225420
Variant Present in the following documents:
  • Main text
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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: K1347A
PubMed Link: 24025585
Variant Present in the following documents:
  • Main text
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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: K1347A
PubMed Link: 22988868
Variant Present in the following documents:
  • Main text
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LRRK2 functions as a Wnt signaling scaffold, bridging cytosolic proteins and membrane-localized LRP6.

Human Molecular Genetics
Berwick, Daniel C DC; Harvey, Kirsten K
Publication Date: 2012-11-15

Variant appearance in text: LRRK2: K1347A
PubMed Link: 22899650
Variant Present in the following documents:
  • Main text
  • dds342.pdf
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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: K1347A
PubMed Link: 22860184
Variant Present in the following documents:
  • Main text
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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: K1347A
PubMed Link: 22363216
Variant Present in the following documents:
  • Main text
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LRRK2 regulates mitochondrial dynamics and function through direct interaction with DLP1.

Human Molecular Genetics
Wang, Xinglong X; Yan, Michael H MH; Fujioka, Hisashi H; Liu, Jun J; Wilson-Delfosse, Amy A; Chen, Shu G SG; Perry, George G; Casadesus, Gemma G; Zhu, Xiongwei X
Publication Date: 2012-05-01

Variant appearance in text: LRRK2: K1347A
PubMed Link: 22228096
Variant Present in the following documents:
  • Main text
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LRRK2 kinase activity is dependent on LRRK2 GTP binding capacity but independent of LRRK2 GTP binding.

Plos One
Taymans, Jean-Marc JM; Vancraenenbroeck, Renée R; Ollikainen, Petri P; Beilina, Alexandra A; Lobbestael, Evy E; De Maeyer, Marc M; Baekelandt, Veerle V; Cookson, Mark R MR
Publication Date: 2011

Variant appearance in text: LRRK2: K1347A
PubMed Link: 21858031
Variant Present in the following documents:
  • Main text
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Autophosphorylation in the leucine-rich repeat kinase 2 (LRRK2) GTPase domain modifies kinase and GTP-binding activities.

Journal Of Molecular Biology
Webber, Philip J PJ; Smith, Archer D AD; Sen, Saurabh S; Renfrow, Matthew B MB; Mobley, James A JA; West, Andrew B AB
Publication Date: 2011-09-09

Variant appearance in text: LRRK2: K1347A
PubMed Link: 21806997
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: K1347A
PubMed Link: 21603132
Variant Present in the following documents:
  • Main text
  • PD2011-942412.pdf
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Rac1 protein rescues neurite retraction caused by G2019S leucine-rich repeat kinase 2 (LRRK2).

The Journal Of Biological Chemistry
Chan, Diane D; Citro, Allison A; Cordy, Joanna M JM; Shen, Grace C GC; Wolozin, Benjamin B
Publication Date: 2011-05-06

Variant appearance in text: LRRK2: K1347A
PubMed Link: 21454543
Variant Present in the following documents:
  • Main text
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Insight into the mode of action of the LRRK2 Y1699C pathogenic mutant.

Journal Of Neurochemistry
Daniëls, Veronique V; Vancraenenbroeck, Renée R; Law, Bernard M H BM; Greggio, Elisa E; Lobbestael, Evy E; Gao, Fangye F; De Maeyer, Marc M; Cookson, Mark R MR; Harvey, Kirsten K; Baekelandt, Veerle V; Taymans, Jean-Marc JM
Publication Date: 2011-01

Variant appearance in text: LRRK2: K1347A
PubMed Link: 21073465
Variant Present in the following documents:
  • Main text
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Identification and characterization of a leucine-rich repeat kinase 2 (LRRK2) consensus phosphorylation motif.

Plos One
Pungaliya, Pooja P PP; Bai, Yuchen Y; Lipinski, Kerri K; Anand, Vasanti S VS; Sen, Saurabh S; Brown, Eugene L EL; Bates, Brian B; Reinhart, Peter H PH; West, Andrew B AB; Hirst, Warren D WD; Braithwaite, Steven P SP
Publication Date: 2010-10-27

Variant appearance in text: LRRK2: K1347A
PubMed Link: 21060682
Variant Present in the following documents:
  • Main text
  • pone.0013672.pdf
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Reevaluation of phosphorylation sites in the Parkinson disease-associated leucine-rich repeat kinase 2.

The Journal Of Biological Chemistry
Li, Xiaojie X; Moore, Darren J DJ; Xiong, Yulan Y; Dawson, Ted M TM; Dawson, Valina L VL
Publication Date: 2010-09-17

Variant appearance in text: LRRK2: K1347A
PubMed Link: 20595391
Variant Present in the following documents:
  • Main text
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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: K1347A
PubMed Link: 20386743
Variant Present in the following documents:
  • Main text
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LRRK2-mediated neurodegeneration and dysfunction of dopaminergic neurons in a Caenorhabditis elegans model of Parkinson's disease.

Neurobiology Of Disease
Yao, Chen C; El Khoury, Rabih R; Wang, Wen W; Byrd, Tara A TA; Pehek, Elizabeth A EA; Thacker, Colin C; Zhu, Xiongwei X; Smith, Mark A MA; Wilson-Delfosse, Amy L AL; Chen, Shu G SG
Publication Date: 2010-10

Variant appearance in text: LRRK2: K1347A
PubMed Link: 20382224
Variant Present in the following documents:
  • Main text
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Dependence of leucine-rich repeat kinase 2 (LRRK2) kinase activity on dimerization.

The Journal Of Biological Chemistry
Sen, Saurabh S; Webber, Philip J PJ; West, Andrew B AB
Publication Date: 2009-12-25

Variant appearance in text: LRRK2: K1347A
PubMed Link: 19826009
Variant Present in the following documents:
  • Main text
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The R1441C mutation alters the folding properties of the ROC domain of LRRK2.

Biochimica Et Biophysica Acta
Li, Yongchao Y; Dunn, Laura L; Greggio, Elisa E; Krumm, Brian B; Jackson, Graham S GS; Cookson, Mark R MR; Lewis, Patrick A PA; Deng, Junpeng J
Publication Date: 2009-12

Variant appearance in text: LRRK2: K1347A
PubMed Link: 19781641
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: K1347A
PubMed Link: 19570025
Variant Present in the following documents:
  • Main text
  • an001e002.pdf
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The Parkinson disease-associated leucine-rich repeat kinase 2 (LRRK2) is a dimer that undergoes intramolecular autophosphorylation.

The Journal Of Biological Chemistry
Greggio, Elisa E; Zambrano, Ibardo I; Kaganovich, Alice A; Beilina, Alexandra A; Taymans, Jean-Marc JM; Daniëls, Veronique V; Lewis, Patrick P; Jain, Shushant S; Ding, Jinhui J; Syed, Ali A; Thomas, Kelly J KJ; Baekelandt, Veerle V; Cookson, Mark R MR
Publication Date: 2008-06-13

Variant appearance in text: LRRK2: K1347A
PubMed Link: 18397888
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: K1347A
PubMed Link: 18230735
Variant Present in the following documents:
  • Main text
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The Parkinson's disease-associated protein, leucine-rich repeat kinase 2 (LRRK2), is an authentic GTPase that stimulates kinase activity.

Experimental Cell Research
Guo, Luxuan L; Gandhi, Payal N PN; Wang, Wen W; Petersen, Robert B RB; Wilson-Delfosse, Amy L AL; Chen, Shu G SG
Publication Date: 2007-10-01

Variant appearance in text: LRRK2: K1347A
PubMed Link: 17706965
Variant Present in the following documents:
  • Main text
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The R1441C mutation of LRRK2 disrupts GTP hydrolysis.

Biochemical And Biophysical Research Communications
Lewis, Patrick A PA; Greggio, Elisa E; Beilina, Alexandra A; Jain, Shushant S; Baker, Acacia A; Cookson, Mark R MR
Publication Date: 2007-06-08

Variant appearance in text: LRRK2: K1347A
PubMed Link: 17442267
Variant Present in the following documents:
  • Main text
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