LRRK2 c.632C>T ;(p.A211V)

Variant ID: 12-40634345-C-T

NM_198578.3(LRRK2):c.632C>T;(p.A211V)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Guam ALS-PDC is a distinct double-prion disorder featuring both tau and Aβ prions.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Condello, Carlo C; Ayers, Jacob I JI; Dalgard, Clifton L CL; Garcia Garcia, M Madhy MM; Rivera, Brianna M BM; Seeley, William W WW; Perl, Daniel P DP; Prusiner, Stanley B SB
Publication Date: 2023-03-28

Variant appearance in text: LRRK2: 632C>T; A211V
PubMed Link: 36952379
Variant Present in the following documents:
  • pnas.2220984120.sapp.pdf
View BVdb publication page



Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17

Variant appearance in text: LRRK2: 632C>T; Ala211Val; rs112794616
PubMed Link: 36124685
Variant Present in the following documents:
  • noac220_suppl_supplementary_table_s3.xlsx, sheet 1
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: A211V
PubMed Link: 35950872
Variant Present in the following documents:
  • Main text
  • BCJ-479-1759-s1.pdf
  • BCJ-479-1759.pdf
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Functional Analyses of Two Novel LRRK2 Pathogenic Variants in Familial Parkinson's Disease.

Movement Disorders : Official Journal Of The Movement Disorder Society
Coku, Ilda I; Mutez, Eugénie E; Eddarkaoui, Sabiha S; Carrier, Sébastien S; Marchand, Antoine A; Deldycke, Claire C; Goveas, Liesel L; Baille, Guillaume G; Tir, Mélissa M; Magnez, Romain R; Thuru, Xavier X; Vermeersch, Gaëlle G; Vandenberghe, Wim W; Buée, Luc L; Defebvre, Luc L; Sablonnière, Bernard B; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM; Huin, Vincent V
Publication Date: 2022-08

Variant appearance in text: LRRK2: A211V
PubMed Link: 35708213
Variant Present in the following documents:
  • Main text
  • MDS-37-1761.pdf
View BVdb publication page



Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.

Nature Communications
Romero, Delfina M DM; Poirier, Karine K; Belvindrah, Richard R; Moutkine, Imane I; Houllier, Anne A; LeMoing, Anne-Gaëlle AG; Petit, Florence F; Boland, Anne A; Collins, Stephan C SC; Soiza-Reilly, Mariano M; Yalcin, Binnaz B; Chelly, Jamel J; Deleuze, Jean-François JF; Bahi-Buisson, Nadia N; Francis, Fiona F
Publication Date: 2022-05-18

Variant appearance in text: rs112794616
PubMed Link: 35585091
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_30443.pdf
View BVdb publication page



Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings.

Frontiers In Neurology
Guadagnolo, Daniele D; Piane, Maria M; Torrisi, Maria Rosaria MR; Pizzuti, Antonio A; Petrucci, Simona S
Publication Date: 2021

Variant appearance in text: LRRK2: A211V
PubMed Link: 34630269
Variant Present in the following documents:
  • Main text
  • fneur-12-648588.pdf
View BVdb publication page



Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.

Therapeutic Advances In Medical Oncology
Scheipl, Susanne S; Brcic, Iva I; Moser, Tina T; Fischerauer, Stefan S; Riedl, Jakob J; Bergovec, Marko M; Smolle, Maria M; Posch, Florian F; Gerger, Armin A; Pichler, Martin M; Stoeger, Herbert H; Leithner, Andreas A; Heitzer, Ellen E; Liegl-Atzwanger, Bernadette B; Szkandera, Joanna J
Publication Date: 2021

Variant appearance in text: LRRK2: A211V
PubMed Link: 34367342
Variant Present in the following documents:
  • sj-xlsx-1-tam-10.1177_17588359211029125.xlsx, sheet 1
View BVdb publication page



Activation of FADD-Dependent Neuronal Death Pathways as a Predictor of Pathogenicity for LRRK2 Mutations.

Plos One
Melachroinou, Katerina K; Leandrou, Emmanouela E; Valkimadi, Polytimi-Eleni PE; Memou, Anna A; Hadjigeorgiou, Georgios G; Stefanis, Leonidas L; Rideout, Hardy J HJ
Publication Date: 2016

Variant appearance in text: LRRK2: A211V
PubMed Link: 27832104
Variant Present in the following documents:
  • Main text
  • pone.0166053.pdf
View BVdb publication page



Sequences located within the N-terminus of the PD-linked LRRK2 lead to increased aggregation and attenuation of 6-hydroxydopamine-induced cell death.

Plos One
Pandey, Neeraj N; Fahey, Mark T MT; Jong, Yuh-Jiin I YJ; O'Malley, Karen L KL
Publication Date: 2012

Variant appearance in text: LRRK2: A211V
PubMed Link: 23028814
Variant Present in the following documents:
  • Main text
  • pone.0045149.pdf
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: A211V; rs112794616
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: 632C>T; A211V
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: A211V
PubMed Link: 18973807
Variant Present in the following documents:
  • Main text
View BVdb publication page