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

Variant ID: 12-40716188-G-T

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

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Analysis of rare Parkinson's disease variants in millions of people.

Research Square
Pitz, Vanessa V; Makarious, Mary M; Bandrés-Ciga, Sara S; Iwaki, Hirotaka H; Singleton, Andrew A; Nalls, Mike M; Heilbron, Karl K; Blauwendraat, Cornelis C
Publication Date: 2023-04-10

Variant appearance in text: LRRK2: L1795F; rs111910483
PubMed Link: 37090536
Variant Present in the following documents:
  • nihpp-rs2743857v1.pdf
View BVdb publication page



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-s1.pdf
  • BCJ-479-1759.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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The Role of Genetic Testing in the Clinical Practice and Research of Early-Onset Parkinsonian Disorders in a Hungarian Cohort: Increasing Challenge in Genetic Counselling, Improving Chances in Stratification for Clinical Trials.

Frontiers In Genetics
Illés, Anett A; Csabán, Dóra D; Grosz, Zoltán Z; Balicza, Péter P; Gézsi, András A; Molnár, Viktor V; Bencsik, Renáta R; Gál, Anikó A; Klivényi, Péter P; Molnar, Maria Judit MJ
Publication Date: 2019

Variant appearance in text: LRRK2: 5385G>T; L1795F; rs111910483
PubMed Link: 31737044
Variant Present in the following documents:
  • Main text
  • fgene-10-01061.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
View BVdb publication page



Mutation analysis of patients with neurodegenerative disorders using NeuroX array.

Neurobiology Of Aging
Ghani, Mahdi M; Lang, Anthony E AE; Zinman, Lorne L; Nacmias, Benedetta B; Sorbi, Sandro S; Bessi, Valentina V; Tedde, Andrea A; Tartaglia, Maria Carmela MC; Surace, Ezequiel I EI; Sato, Christine C; Moreno, Danielle D; Xi, Zhengrui Z; Hung, Rachel R; Nalls, Mike A MA; Singleton, Andrew A; St George-Hyslop, Peter P; Rogaeva, Ekaterina E
Publication Date: 2015-01

Variant appearance in text: LRRK2: L1795F; rs111910483
PubMed Link: 25174650
Variant Present in the following documents:
  • Main text
View BVdb publication page



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



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: L1795F; rs111910483
PubMed Link: 21885347
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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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: 5385G>T; L1795F
PubMed Link: 20506312
Variant Present in the following documents:
  • humu0031-0763-SD1.pdf
View BVdb publication page



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