LRRK2 c.5980G>A ;(p.D1994N)

Variant ID: 12-40734127-G-A

NM_198578.3(LRRK2):c.5980G>A;(p.D1994N)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


LRRK2 and Protein Aggregation in Parkinson's Disease: Insights From Animal Models.

Frontiers In Neuroscience
Dues, Dylan J DJ; Moore, Darren J DJ
Publication Date: 2020

Variant appearance in text: LRRK2: D1994N
PubMed Link: 32733200
Variant Present in the following documents:
  • Main text
  • fnins-14-00719.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: D1994N
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: D1994N
PubMed Link: 32612495
Variant Present in the following documents:
  • Main text
  • fnins-14-00527.pdf
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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: D1994N
PubMed Link: 32180220
Variant Present in the following documents:
  • Main text
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Physiological and pathological roles of LRRK2 in the nuclear envelope integrity.

Human Molecular Genetics
Shani, Vered V; Safory, Hazem H; Szargel, Raymonde R; Wang, Ninghan N; Cohen, Tsipora T; Elghani, Fatimah Abd FA; Hamza, Haya H; Savyon, Mor M; Radzishevsky, Inna I; Shaulov, Lihi L; Rott, Ruth R; Lim, Kah-Leong KL; Ross, Christopher A CA; Bandopadhyay, Rina R; Zhang, Hui H; Engelender, Simone S
Publication Date: 2019-12-01

Variant appearance in text: LRRK2: D1994N
PubMed Link: 31626293
Variant Present in the following documents:
  • Main text
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LRRK2 enhances Nod1/2-mediated inflammatory cytokine production by promoting Rip2 phosphorylation.

Protein & Cell
Yan, Ruiqing R; Liu, Zhihua Z
Publication Date: 2017-01

Variant appearance in text: LRRK2: D1994N
PubMed Link: 27830463
Variant Present in the following documents:
  • Main text
  • 13238_2016_Article_326.pdf
  • 13238_2016_326_MOESM1_ESM.pdf
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Parkinson-Related LRRK2 Mutation R1628P Enables Cdk5 Phosphorylation of LRRK2 and Upregulates Its Kinase Activity.

Plos One
Shu, Yang Y; Ming, Jie J; Zhang, Pei P; Wang, Qingzhi Q; Jiao, Fengjuan F; Tian, Bo B
Publication Date: 2016

Variant appearance in text: LRRK2: D1994N
PubMed Link: 26930193
Variant Present in the following documents:
  • Main text
  • pone.0149739.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: D1994N
PubMed Link: 25201882
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: D1994N
PubMed Link: 24836358
Variant Present in the following documents:
  • Main text
  • pone.0097988.pdf
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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: D1994N
PubMed Link: 24794857
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: D1994N
PubMed Link: 21603132
Variant Present in the following documents:
  • Main text
  • PD2011-942412.pdf
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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: D1994N
PubMed Link: 21060682
Variant Present in the following documents:
  • Main text
  • pone.0013672.pdf
View BVdb publication page