LRRK2 c.6103A>G ;(p.T2035A)

Variant ID: 12-40734250-A-G

NM_198578.3(LRRK2):c.6103A>G;(p.T2035A)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


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: T2035A
PubMed Link: 32612495
Variant Present in the following documents:
  • Main text
  • fnins-14-00527.pdf
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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: T2035A
PubMed Link: 28453723
Variant Present in the following documents:
  • Main text
  • ddx161.pdf
View BVdb publication page



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: T2035A
PubMed Link: 24836358
Variant Present in the following documents:
  • Main text
  • pone.0097988.pdf
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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: T2035A
PubMed Link: 21603132
Variant Present in the following documents:
  • Main text
  • PD2011-942412.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: T2035A
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: T2035A
PubMed Link: 20386743
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: T2035A
PubMed Link: 18397888
Variant Present in the following documents:
  • Main text
View BVdb publication page