LRRK2 c.4310A>G ;(p.N1437S)

Variant ID: 12-40703028-A-G

NM_198578.3(LRRK2):c.4310A>G;(p.N1437S)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Overview of the Impact of Pathogenic LRRK2 Mutations in Parkinson's Disease.

Biomolecules
Ito, Genta G; Utsunomiya-Tate, Naoko N
Publication Date: 2023-05-16

Variant appearance in text: LRRK2: N1437S
PubMed Link: 37238714
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00845.pdf
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Mind the Gap: LRRK2 Phenotypes in the Clinic vs. in Patient Cells.

Cells
Goveas, Liesel L; Mutez, Eugénie E; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM
Publication Date: 2021-04-22

Variant appearance in text: LRRK2: N1437S
PubMed Link: 33922322
Variant Present in the following documents:
  • Main text
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No dopamine cell loss or changes in cytoskeleton function in transgenic mice expressing physiological levels of wild type or G2019S mutant LRRK2 and in human fibroblasts.

Plos One
Garcia-Miralles, Marta M; Coomaraswamy, Janaky J; Häbig, Karina K; Herzig, Martin C MC; Funk, Natalja N; Gillardon, Frank F; Maisel, Martina M; Jucker, Mathias M; Gasser, Thomas T; Galter, Dagmar D; Biskup, Saskia S
Publication Date: 2015

Variant appearance in text: LRRK2: N1437S
PubMed Link: 25830304
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: N1437S
PubMed Link: 25500533
Variant Present in the following documents:
  • Main text
  • nihms641836.pdf
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Genetic Screening of the Mitochondrial Rho GTPases MIRO1 and MIRO2 in Parkinson's Disease.

The Open Neurology Journal
Anvret, Anna A; Ran, Caroline C; Westerlund, Marie M; Sydow, Olof O; Willows, Thomas T; Olson, Lars L; Galter, Dagmar D; Belin, Andrea Carmine AC
Publication Date: 2012

Variant appearance in text: LRRK2: N1437S
PubMed Link: 22496713
Variant Present in the following documents:
  • Main text
  • TONEUJ-6-1.pdf
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ARHGEF7 (Beta-PIX) acts as guanine nucleotide exchange factor for leucine-rich repeat kinase 2.

Plos One
Haebig, Karina K; Gloeckner, Christian Johannes CJ; Miralles, Marta Garcia MG; Gillardon, Frank F; Schulte, Claudia C; Riess, Olaf O; Ueffing, Marius M; Biskup, Saskia S; Bonin, Michael M
Publication Date: 2010-10-29

Variant appearance in text: LRRK2: N1437S
PubMed Link: 21048939
Variant Present in the following documents:
  • Main text
  • pone.0013762.pdf
View BVdb publication page