LRRK2 c.4324G>C ;(p.A1442P)

Variant ID: 12-40704239-G-C

NM_198578.3(LRRK2):c.4324G>C;(p.A1442P)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


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: Ala1442Pro
PubMed Link: 35950872
Variant Present in the following documents:
  • Main text
  • BCJ-479-1759-s1.pdf
  • BCJ-479-1759.pdf
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Pathogenic LRRK2 requires secondary factors to induce cellular toxicity.

Bioscience Reports
Lobbestael, Evy E; Van den Haute, Chris C; Macchi, Francesca F; Taymans, Jean-Marc JM; Baekelandt, Veerle V
Publication Date: 2020-10-30

Variant appearance in text: LRRK2: A1442P
PubMed Link: 32975566
Variant Present in the following documents:
  • bsr-40-bsr20202225.pdf
View BVdb publication page



Inhibition of LRRK2 or Casein Kinase 1 Results in LRRK2 Protein Destabilization.

Molecular Neurobiology
De Wit, T T; Baekelandt, V V; Lobbestael, E E
Publication Date: 2019-08

Variant appearance in text: LRRK2: A1442P
PubMed Link: 30592011
Variant Present in the following documents:
  • 12035_2018_Article_1449.pdf
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The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1.

Frontiers In Molecular Neuroscience
Perez Carrion, Maria M; Pischedda, Francesca F; Biosa, Alice A; Russo, Isabella I; Straniero, Letizia L; Civiero, Laura L; Guida, Marianna M; Gloeckner, Christian J CJ; Ticozzi, Nicola N; Tiloca, Cinzia C; Mariani, Claudio C; Pezzoli, Gianni G; Duga, Stefano S; Pichler, Irene I; Pan, Lifeng L; Landers, John E JE; Greggio, Elisa E; Hess, Michael W MW; Goldwurm, Stefano S; Piccoli, Giovanni G
Publication Date: 2018

Variant appearance in text: LRRK2: A1442P
PubMed Link: 29541021
Variant Present in the following documents:
  • Main text
  • fnmol-11-00064.pdf
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The LRRK2 signalling system.

Cell And Tissue Research
Price, Alice A; Manzoni, Claudia C; Cookson, Mark R MR; Lewis, Patrick A PA
Publication Date: 2018-07

Variant appearance in text: LRRK2: A1442P
PubMed Link: 29308544
Variant Present in the following documents:
  • 441_2017_Article_2759.pdf
View BVdb publication page



Mutations in LRRK2 impair NF-κB pathway in iPSC-derived neurons.

Journal Of Neuroinflammation
López de Maturana, Rakel R; Lang, Valérie V; Zubiarrain, Amaia A; Sousa, Amaya A; Vázquez, Nerea N; Gorostidi, Ana A; Águila, Julio J; López de Munain, Adolfo A; Rodríguez, Manuel M; Sánchez-Pernaute, Rosario R
Publication Date: 2016-11-18

Variant appearance in text: LRRK2: A1442P
PubMed Link: 27863501
Variant Present in the following documents:
  • 12974_2016_Article_761.pdf
View BVdb publication page



Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp
Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N
Publication Date: 2016-11

Variant appearance in text: LRRK2: 4324G>C; Ala1442Pro
PubMed Link: 27697855
Variant Present in the following documents:
  • 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5
View BVdb publication page



Pharmacological LRRK2 kinase inhibition induces LRRK2 protein destabilization and proteasomal degradation.

Scientific Reports
Lobbestael, E E; Civiero, L L; De Wit, T T; Taymans, J-M JM; Greggio, E E; Baekelandt, V V
Publication Date: 2016-09-23

Variant appearance in text: LRRK2: A1442P
PubMed Link: 27658356
Variant Present in the following documents:
  • srep33897.pdf
View BVdb publication page



LRRK2 dephosphorylation increases its ubiquitination.

The Biochemical Journal
Zhao, Jing J; Molitor, Tyler P TP; Langston, J William JW; Nichols, R Jeremy RJ
Publication Date: 2015-07-01

Variant appearance in text: LRRK2: A1442P
PubMed Link: 25939886
Variant Present in the following documents:
  • bj4690107.pdf
View BVdb publication page



LRRK2 kinase activity and biology are not uniformly predicted by its autophosphorylation and cellular phosphorylation site status.

Frontiers In Molecular Neuroscience
Reynolds, April A; Doggett, Elizabeth A EA; Riddle, Steve M SM; Lebakken, Connie S CS; Nichols, R Jeremy RJ
Publication Date: 2014

Variant appearance in text: LRRK2: A1442P
PubMed Link: 25009464
Variant Present in the following documents:
  • Main text
  • fnmol-07-00054.pdf
View BVdb publication page



P268S in NOD2 associates with susceptibility to Parkinson's disease in Chinese population.

Behavioral And Brain Functions : Bbf
Ma, Qilin Q; An, Xingkai X; Li, Zhiming Z; Zhang, Huanjing H; Huang, Wenqing W; Cai, Liangliang L; Hu, Peng P; Lin, Qing Q; Tzeng, Chi-Meng CM
Publication Date: 2013-05-07

Variant appearance in text: LRRK2: A1442P
PubMed Link: 23651603
Variant Present in the following documents:
  • Main text
  • 1744-9081-9-19.pdf
View BVdb publication page



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: A1442P
PubMed Link: 21885347
Variant Present in the following documents:
  • Main text
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14-3-3 binding to LRRK2 is disrupted by multiple Parkinson's disease-associated mutations and regulates cytoplasmic localization.

The Biochemical Journal
Nichols, R Jeremy RJ; Dzamko, Nicolas N; Morrice, Nicholas A NA; Campbell, David G DG; Deak, Maria M; Ordureau, Alban A; Macartney, Thomas T; Tong, Youren Y; Shen, Jie J; Prescott, Alan R AR; Alessi, Dario R DR
Publication Date: 2010-09-15

Variant appearance in text: LRRK2: A1442P
PubMed Link: 20642453
Variant Present in the following documents:
  • Main text
  • bj4300393.pdf
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Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Human Mutation
Nuytemans, Karen K; Theuns, Jessie J; Cruts, Marc M; Van Broeckhoven, Christine C
Publication Date: 2010-07

Variant appearance in text: LRRK2: 4324G>C; A1442P
PubMed Link: 20506312
Variant Present in the following documents:
  • humu0031-0763-SD1.pdf
View BVdb publication page



Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.

Neurology
Haugarvoll, K K; Rademakers, R R; Kachergus, J M JM; Nuytemans, K K; Ross, O A OA; Gibson, J M JM; Tan, E-K EK; Gaig, C C; Tolosa, E E; Goldwurm, S S; Guidi, M M; Riboldazzi, G G; Brown, L L; Walter, U U; Benecke, R R; Berg, D D; Gasser, T T; Theuns, J J; Pals, P P; Cras, P P; De Deyn, P Paul PP; Engelborghs, S S; Pickut, B B; Uitti, R J RJ; Foroud, T T; Nichols, W C WC; Hagenah, J J; Klein, C C; Samii, A A; Zabetian, C P CP; Bonifati, V V; Van Broeckhoven, C C; Farrer, M J MJ; Wszolek, Z K ZK
Publication Date: 2008-04-15

Variant appearance in text: LRRK2: 4324G>C; A1442P
PubMed Link: 18337586
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: A1442P
PubMed Link: 18230735
Variant Present in the following documents:
  • Main text
View BVdb publication page