LRRK2 c.3494T>C ;(p.L1165P)

Variant ID: 12-40693057-T-C

NM_198578.3(LRRK2):c.3494T>C;(p.L1165P)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


LRRK2 Structure-Based Activation Mechanism and Pathogenesis.

Biomolecules
Zhang, Xiaojuan X; Kortholt, Arjan A
Publication Date: 2023-03-28

Variant appearance in text: LRRK2: L1165P
PubMed Link: 37189360
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00612.pdf
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LRRK2 and Parkinson's disease: from genetics to targeted therapy.

Annals Of Clinical And Translational Neurology
Sosero, Yuri L YL; Gan-Or, Ziv Z
Publication Date: 2023-04-06

Variant appearance in text: LRRK2: L1165P
PubMed Link: 37021623
Variant Present in the following documents:
  • Main text
  • ACN3-10-850.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: L1165P
PubMed Link: 33922322
Variant Present in the following documents:
  • Main text
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Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

International Journal Of Molecular Sciences
Chittoor-Vinod, Vinita G VG; Nichols, R Jeremy RJ; Schüle, Birgitt B
Publication Date: 2021-01-21

Variant appearance in text: LRRK2: 3494T>C; L1165P
PubMed Link: 33494262
Variant Present in the following documents:
  • Main text
  • ijms-22-01045.pdf
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Alzheimer's disease tau is a prominent pathology in LRRK2 Parkinson's disease.

Acta Neuropathologica Communications
Henderson, Michael X MX; Sengupta, Medha M; Trojanowski, John Q JQ; Lee, Virginia M Y VMY
Publication Date: 2019-11-16

Variant appearance in text: LRRK2: L1165P
PubMed Link: 31733655
Variant Present in the following documents:
  • Main text
  • 40478_2019_Article_836.pdf
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Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Movement Disorders : Official Journal Of The Movement Disorder Society
Schneider, Susanne A SA; Alcalay, Roy N RN
Publication Date: 2017-11

Variant appearance in text: LRRK2: L1165P
PubMed Link: 29124790
Variant Present in the following documents:
  • Main text
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Evaluating LRRK2 genetic variants with unclear pathogenicity.

Biomed Research International
Refai, Fathima Shaffra FS; Ng, Shin Hui SH; Tan, Eng-King EK
Publication Date: 2015

Variant appearance in text: LRRK2: L1165P
PubMed Link: 25821816
Variant Present in the following documents:
  • Main text
  • BMRI2015-678701.pdf
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TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT.

Neurobiology Of Aging
Ling, Helen H; Kara, Eleanna E; Bandopadhyay, Rina R; Hardy, John J; Holton, Janice J; Xiromerisiou, Georgia G; Lees, Andrew A; Houlden, Henry H; Revesz, Tamas T
Publication Date: 2013-12

Variant appearance in text: LRRK2: L1165P
PubMed Link: 23664753
Variant Present in the following documents:
  • Main text
View BVdb publication page



The neuropathology of genetic Parkinson's disease.

Movement Disorders : Official Journal Of The Movement Disorder Society
Poulopoulos, Markos M; Levy, Oren A OA; Alcalay, Roy N RN
Publication Date: 2012-06

Variant appearance in text: LRRK2: L1165P
PubMed Link: 22451330
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: L1165P
PubMed Link: 21885347
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 3494T>C; L1165P
PubMed Link: 20506312
Variant Present in the following documents:
  • humu0031-0763-SD1.pdf
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Leucine-rich repeat kinase 2 expression leads to aggresome formation that is not associated with alpha-synuclein inclusions.

Journal Of Neuropathology And Experimental Neurology
Waxman, Elisa A EA; Covy, Jason P JP; Bukh, Irene I; Li, Xiaojie X; Dawson, Ted M TM; Giasson, Benoit I BI
Publication Date: 2009-07

Variant appearance in text: LRRK2: L1165P
PubMed Link: 19535993
Variant Present in the following documents:
  • Main text
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Clinical and pathological characteristics of patients with leucine-rich repeat kinase-2 mutations.

Movement Disorders : Official Journal Of The Movement Disorder Society
Covy, Jason P JP; Yuan, Wuxing W; Waxman, Elisa A EA; Hurtig, Howard I HI; Van Deerlin, Vivianna M VM; Giasson, Benoit I BI
Publication Date: 2009-01-15

Variant appearance in text: LRRK2: 3494T>C
PubMed Link: 19006185
Variant Present in the following documents:
  • Main text
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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: L1165P
PubMed Link: 18973807
Variant Present in the following documents:
  • Main text
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Corticobasal syndrome and primary progressive aphasia as manifestations of LRRK2 gene mutations.

Neurology
Chen-Plotkin, A S AS; Yuan, W W; Anderson, C C; McCarty Wood, E E; Hurtig, H I HI; Clark, C M CM; Miller, B L BL; Lee, V M-Y VM; Trojanowski, J Q JQ; Grossman, M M; Van Deerlin, V M VM
Publication Date: 2008-02-12

Variant appearance in text: LRRK2: 3494T>C; L1165P
PubMed Link: 17914064
Variant Present in the following documents:
  • Main text
View BVdb publication page