LRRK2 c.5385G>C ;(p.L1795F)

Variant ID: 12-40716188-G-C

NM_198578.3(LRRK2):c.5385G>C;(p.L1795F)

This variant was identified in 7 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: L1795F
PubMed Link: 35950872
Variant Present in the following documents:
  • Main text
  • BCJ-479-1759.pdf
  • BCJ-479-1759-s1.pdf
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Association of caffeine and related analytes with resistance to Parkinson disease among LRRK2 mutation carriers: A metabolomic study.

Neurology
Crotty, Grace F GF; Maciuca, Romeo R; Macklin, Eric A EA; Wang, Junhua J; Montalban, Manuel M; Davis, Sonnet S SS; Alkabsh, Jamal I JI; Bakshi, Rachit R; Chen, Xiqun X; Ascherio, Alberto A; Astarita, Giuseppe G; Huntwork-Rodriguez, Sarah S; Schwarzschild, Michael A MA
Publication Date: 2020-12-15

Variant appearance in text: LRRK2: L1795F
PubMed Link: 32999056
Variant Present in the following documents:
  • Main text
  • NEUROLOGY2020103689.pdf
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Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.

Molecular Neurodegeneration
Benitez, Bruno A BA; Davis, Albert A AA; Jin, Sheng Chih SC; Ibanez, Laura L; Ortega-Cubero, Sara S; Pastor, Pau P; Choi, Jiyoon J; Cooper, Breanna B; Perlmutter, Joel S JS; Cruchaga, Carlos C
Publication Date: 2016-04-19

Variant appearance in text: LRRK2: L1795F
PubMed Link: 27094865
Variant Present in the following documents:
  • Main text
  • 13024_2016_Article_97.pdf
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Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease.

Cns & Neurological Disorders Drug Targets
Bademci, Guney G; Vance, Jeffery M JM; Wang, Liyong L
Publication Date: 2012-06-01

Variant appearance in text: LRRK2: L1795F
PubMed Link: 22583432
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease.

Movement Disorders : Official Journal Of The Movement Disorder Society
Latourelle, Jeanne C JC; Hendricks, Audrey E AE; Pankratz, Nathan N; Wilk, Jemma B JB; Halter, Cheryl C; Nichols, William C WC; Gusella, James F JF; Destefano, Anita L AL; Myers, Richard H RH; Foroud, Tatiana T; ,
Publication Date: 2011-09

Variant appearance in text: LRRK2: L1795F
PubMed Link: 21661047
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: L1795F
PubMed Link: 20642453
Variant Present in the following documents:
  • Main text
  • bj4300393.pdf
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Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease.

Biochimica Et Biophysica Acta
Biskup, Saskia S; West, Andrew B AB
Publication Date: 2009-07

Variant appearance in text: LRRK2: L1795F
PubMed Link: 18973807
Variant Present in the following documents:
  • Main text
View BVdb publication page