LRRK2 c.6050A>C ;(p.D2017A)

Variant ID: 12-40734197-A-C

NM_198578.3(LRRK2):c.6050A>C;(p.D2017A)

This variant was identified in 31 publications

View GRCh38 version.




Publications:


PKC isoforms activate LRRK1 kinase by phosphorylating conserved residues (Ser1064, Ser1074 and Thr1075) within the CORB GTPase domain.

The Biochemical Journal
Malik, Asad U AU; Karapetsas, Athanasios A; Nirujogi, Raja S RS; Chatterjee, Deep D; Phung, Toan K TK; Wightman, Melanie M; Gourlay, Robert R; Morrice, Nick N; Mathea, Sebastian S; Knapp, Stefan S; Alessi, Dario R DR
Publication Date: 2022-09-30

Variant appearance in text: LRRK2: D2017A
PubMed Link: 36040231
Variant Present in the following documents:
  • Main text
  • BCJ-479-1941.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: D2017A
PubMed Link: 35950872
Variant Present in the following documents:
  • Main text
  • BCJ-479-1759.pdf
  • BCJ-479-1759-s1.pdf
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Conformation and dynamics of the kinase domain drive subcellular location and activation of LRRK2.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Schmidt, Sven H SH; Weng, Jui-Hung JH; Aoto, Phillip C PC; Boassa, Daniela D; Mathea, Sebastian S; Silletti, Steve S; Hu, Junru J; Wallbott, Maximilian M; Komives, Elizabeth A EA; Knapp, Stefan S; Herberg, Friedrich W FW; Taylor, Susan S SS
Publication Date: 2021-06-08

Variant appearance in text: LRRK2: D2017A
PubMed Link: 34088839
Variant Present in the following documents:
  • Main text
  • pnas.202100844.pdf
  • pnas.2100844118.sapp.pdf
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Deciphering the LRRK code: LRRK1 and LRRK2 phosphorylate distinct Rab proteins and are regulated by diverse mechanisms.

The Biochemical Journal
Malik, Asad U AU; Karapetsas, Athanasios A; Nirujogi, Raja S RS; Mathea, Sebastian S; Chatterjee, Deep D; Pal, Prosenjit P; Lis, Pawel P; Taylor, Matthew M; Purlyte, Elena E; Gourlay, Robert R; Dorward, Mark M; Weidlich, Simone S; Toth, Rachel R; Polinski, Nicole K NK; Knapp, Stefan S; Tonelli, Francesca F; Alessi, Dario R DR
Publication Date: 2021-02-12

Variant appearance in text: LRRK2: D2017A
PubMed Link: 33459343
Variant Present in the following documents:
  • Main text
  • BCJ-478-553.pdf
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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: D2017A
PubMed Link: 32612495
Variant Present in the following documents:
  • Main text
  • fnins-14-00527.pdf
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Origins of Parkinson's Disease in Brain Development: Insights From Early and Persistent Effects of LRRK2-G2019S on Striatal Circuits.

Frontiers In Neuroscience
Huntley, George W GW; Benson, Deanna L DL
Publication Date: 2020

Variant appearance in text: LRRK2: D2017A
PubMed Link: 32273839
Variant Present in the following documents:
  • Main text
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Membrane association but not identity is required for LRRK2 activation and phosphorylation of Rab GTPases.

The Journal Of Cell Biology
Gomez, Rachel C RC; Wawro, Paulina P; Lis, Pawel P; Alessi, Dario R DR; Pfeffer, Suzanne R SR
Publication Date: 2019-12-02

Variant appearance in text: LRRK2: D2017A
PubMed Link: 31624137
Variant Present in the following documents:
  • Main text
  • JCB_201902184_review_history.pdf
  • JCB_201902184.pdf
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The dynamic switch mechanism that leads to activation of LRRK2 is embedded in the DFGψ motif in the kinase domain.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Schmidt, Sven H SH; Knape, Matthias J MJ; Boassa, Daniela D; Mumdey, Natascha N; Kornev, Alexandr P AP; Ellisman, Mark H MH; Taylor, Susan S SS; Herberg, Friedrich W FW
Publication Date: 2019-07-23

Variant appearance in text: LRRK2: D2017A
PubMed Link: 31292254
Variant Present in the following documents:
  • Main text
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Leucine-rich repeat kinase 2 (LRRK2) inhibitors differentially modulate glutamate release and Serine935 LRRK2 phosphorylation in striatal and cerebrocortical synaptosomes.

Pharmacology Research & Perspectives
Mercatelli, Daniela D; Bolognesi, Paolo P; Frassineti, Martina M; Pisanò, Clarissa A CA; Longo, Francesco F; Shimshek, Derya R DR; Morari, Michele M
Publication Date: 2019-06

Variant appearance in text: LRRK2: D2017A
PubMed Link: 31149340
Variant Present in the following documents:
  • Main text
  • PRP2-7-e00484.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: D2017A
PubMed Link: 30635421
Variant Present in the following documents:
  • Main text
  • pnas.201817889.pdf
  • pnas.1817889116.sapp.pdf
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Functional and behavioral consequences of Parkinson's disease-associated LRRK2-G2019S mutation.

Biochemical Society Transactions
Benson, Deanna L DL; Matikainen-Ankney, Bridget A BA; Hussein, Ayan A; Huntley, George W GW
Publication Date: 2018-12-17

Variant appearance in text: LRRK2: D2017A
PubMed Link: 30514770
Variant Present in the following documents:
  • Main text
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Rab29 activation of the Parkinson's disease-associated LRRK2 kinase.

The Embo Journal
Purlyte, Elena E; Dhekne, Herschel S HS; Sarhan, Adil R AR; Gomez, Rachel R; Lis, Pawel P; Wightman, Melanie M; Martinez, Terina N TN; Tonelli, Francesca F; Pfeffer, Suzanne R SR; Alessi, Dario R DR
Publication Date: 2018-01-04

Variant appearance in text: LRRK2: D2017A
PubMed Link: 29212815
Variant Present in the following documents:
  • Main text
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Systematic proteomic analysis of LRRK2-mediated Rab GTPase phosphorylation establishes a connection to ciliogenesis.

Elife
Steger, Martin M; Diez, Federico F; Dhekne, Herschel S HS; Lis, Pawel P; Nirujogi, Raja S RS; Karayel, Ozge O; Tonelli, Francesca F; Martinez, Terina N TN; Lorentzen, Esben E; Pfeffer, Suzanne R SR; Alessi, Dario R DR; Mann, Matthias M
Publication Date: 2017-11-10

Variant appearance in text: LRRK2: D2017A
PubMed Link: 29125462
Variant Present in the following documents:
  • Main text
  • elife-31012.pdf
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LRRK2 promotes the activation of NLRC4 inflammasome during Salmonella Typhimurium infection.

The Journal Of Experimental Medicine
Liu, Weiwei W; Liu, Xia'nan X; Li, Yu Y; Zhao, Junjie J; Liu, Zhenshan Z; Hu, Zhuqin Z; Wang, Ying Y; Yao, Yufeng Y; Miller, Aaron W AW; Su, Bing B; Cookson, Mark R MR; Li, Xiaoxia X; Kang, Zizhen Z
Publication Date: 2017-10-02

Variant appearance in text: LRRK2: D2017A
PubMed Link: 28821568
Variant Present in the following documents:
  • Main text
  • JEM_20170014.pdf
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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: D2017A
PubMed Link: 28103901
Variant Present in the following documents:
  • Main text
  • 13024_2017_Article_153.pdf
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'Up with the LRRK': a phosphorylated Rab10 assay for evaluation of LRRK2 activity and inhibitor engagement.

The Biochemical Journal
Eyers, Patrick A PA
Publication Date: 2016-09-15

Variant appearance in text: LRRK2: D2017A
PubMed Link: 27621483
Variant Present in the following documents:
  • Main text
  • BCJ-2016-0671C.pdf
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Phos-tag analysis of Rab10 phosphorylation by LRRK2: a powerful assay for assessing kinase function and inhibitors.

The Biochemical Journal
Ito, Genta G; Katsemonova, Kristina K; Tonelli, Francesca F; Lis, Pawel P; Baptista, Marco A S MA; Shpiro, Natalia N; Duddy, Graham G; Wilson, Steve S; Ho, Philip Wing-Lok PW; Ho, Shu-Leong SL; Reith, Alastair D AD; Alessi, Dario R DR
Publication Date: 2016-09-01

Variant appearance in text: LRRK2: D2017A
PubMed Link: 27474410
Variant Present in the following documents:
  • Main text
  • bj4732671.pdf
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Altered Development of Synapse Structure and Function in Striatum Caused by Parkinson's Disease-Linked LRRK2-G2019S Mutation.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Matikainen-Ankney, Bridget A BA; Kezunovic, Nebojsa N; Mesias, Roxana E RE; Tian, Yuan Y; Williams, Frances M FM; Huntley, George W GW; Benson, Deanna L DL
Publication Date: 2016-07-06

Variant appearance in text: LRRK2: D2017A
PubMed Link: 27383589
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: D2017A
PubMed Link: 24942733
Variant Present in the following documents:
  • Main text
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In silico, in vitro and cellular analysis with a kinome-wide inhibitor panel correlates cellular LRRK2 dephosphorylation to inhibitor activity on LRRK2.

Frontiers In Molecular Neuroscience
Vancraenenbroeck, Renée R; De Raeymaecker, Joren J; Lobbestael, Evy E; Gao, Fangye F; De Maeyer, Marc M; Voet, Arnout A; Baekelandt, Veerle V; Taymans, Jean-Marc JM
Publication Date: 2014

Variant appearance in text: LRRK2: D2017A
PubMed Link: 24917786
Variant Present in the following documents:
  • Main text
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Lack of correlation between the kinase activity of LRRK2 harboring kinase-modifying mutations and its phosphorylation at Ser910, 935, and Ser955.

Plos One
Ito, Genta G; Fujimoto, Tetta T; Kamikawaji, Shogo S; Kuwahara, Tomoki T; Iwatsubo, Takeshi T
Publication Date: 2014

Variant appearance in text: LRRK2: D2017A
PubMed Link: 24836358
Variant Present in the following documents:
  • Main text
  • pone.0097988.pdf
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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: D2017A
PubMed Link: 22899650
Variant Present in the following documents:
  • Main text
  • dds342.pdf
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PINK1 is activated by mitochondrial membrane potential depolarization and stimulates Parkin E3 ligase activity by phosphorylating Serine 65.

Open Biology
Kondapalli, Chandana C; Kazlauskaite, Agne A; Zhang, Ning N; Woodroof, Helen I HI; Campbell, David G DG; Gourlay, Robert R; Burchell, Lynn L; Walden, Helen H; Macartney, Thomas J TJ; Deak, Maria M; Knebel, Axel A; Alessi, Dario R DR; Muqit, Miratul M K MM
Publication Date: 2012-05

Variant appearance in text: LRRK2: D2017A
PubMed Link: 22724072
Variant Present in the following documents:
  • rsob-2-120080.pdf
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The G2385R variant of leucine-rich repeat kinase 2 associated with Parkinson's disease is a partial loss-of-function mutation.

The Biochemical Journal
Rudenko, Iakov N IN; Kaganovich, Alice A; Hauser, David N DN; Beylina, Aleksandra A; Chia, Ruth R; Ding, Jinhui J; Maric, Dragan D; Jaffe, Howard H; Cookson, Mark R MR
Publication Date: 2012-08-15

Variant appearance in text: LRRK2: D2017A
PubMed Link: 22612223
Variant Present in the following documents:
  • Main text
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Pathogenic LRRK2 negatively regulates microRNA-mediated translational repression.

Nature
Gehrke, Stephan S; Imai, Yuzuru Y; Sokol, Nicholas N; Lu, Bingwei B
Publication Date: 2010-07-29

Variant appearance in text: LRRK2: D2017A
PubMed Link: 20671708
Variant Present in the following documents:
  • Main text
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Inhibition of LRRK2 kinase activity leads to dephosphorylation of Ser(910)/Ser(935), disruption of 14-3-3 binding and altered cytoplasmic localization.

The Biochemical Journal
Dzamko, Nicolas N; Deak, Maria M; Hentati, Faycal F; Reith, Alastair D AD; Prescott, Alan R AR; Alessi, Dario R DR; Nichols, R Jeremy RJ
Publication Date: 2010-09-15

Variant appearance in text: LRRK2: D2017A
PubMed Link: 20659021
Variant Present in the following documents:
  • bj4300405add.pdf
  • bj4300405.pdf
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Substrate specificity and inhibitors of LRRK2, a protein kinase mutated in Parkinson's disease.

The Biochemical Journal
Nichols, R Jeremy RJ; Dzamko, Nicolas N; Hutti, Jessica E JE; Cantley, Lewis C LC; Deak, Maria M; Moran, Jennifer J; Bamborough, Paul P; Reith, Alastair D AD; Alessi, Dario R DR
Publication Date: 2009-10-23

Variant appearance in text: LRRK2: D2017A
PubMed Link: 19740074
Variant Present in the following documents:
  • Main text
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The Parkinson's disease kinase LRRK2 autophosphorylates its GTPase domain at multiple sites.

Biochemical And Biophysical Research Communications
Greggio, Elisa E; Taymans, Jean-Marc JM; Zhen, Eugene Yuejun EY; Ryder, John J; Vancraenenbroeck, Renée R; Beilina, Alexandra A; Sun, Peng P; Deng, Junpeng J; Jaffe, Howard H; Baekelandt, Veerle V; Merchant, Kalpana K; Cookson, Mark R MR
Publication Date: 2009-11-20

Variant appearance in text: LRRK2: D2017A
PubMed Link: 19733152
Variant Present in the following documents:
  • Main text
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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: D2017A
PubMed Link: 18397888
Variant Present in the following documents:
  • Main text
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LRRK2 phosphorylates moesin at threonine-558: characterization of how Parkinson's disease mutants affect kinase activity.

The Biochemical Journal
Jaleel, Mahaboobi M; Nichols, R Jeremy RJ; Deak, Maria M; Campbell, David G DG; Gillardon, Frank F; Knebel, Axel A; Alessi, Dario R DR
Publication Date: 2007-07-15

Variant appearance in text: LRRK2: D2017A
PubMed Link: 17447891
Variant Present in the following documents:
  • Main text
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