LRRK2 c.3333G>T ;(p.Q1111H)

Variant ID: 12-40692281-G-T

NM_198578.3(LRRK2):c.3333G>T;(p.Q1111H)

This variant was identified in 13 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: Q1111H
PubMed Link: 37189360
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00612.pdf
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Allele-dependent interaction of LRRK2 and NOD2 in leprosy.

Plos Pathogens
Dallmann-Sauer, Monica M; Xu, Yong Zhong YZ; da Costa, Ana Lúcia França ALF; Tao, Shao S; Gomes, Tiago Araujo TA; Prata, Rhana Berto da Silva RBDS; Correa-Macedo, Wilian W; Manry, Jérémy J; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Fava, Vinicius M VM; Pinheiro, Roberta Olmo RO; Lara, Flavio Alves FA; Probst, Christian M CM; Mira, Marcelo T MT; Schurr, Erwin E
Publication Date: 2023-03-27

Variant appearance in text: LRRK2: Q1111H; rs78365431
PubMed Link: 36972292
Variant Present in the following documents:
  • Main text
  • ppat.1011260.pdf
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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: Gln1111His
PubMed Link: 35950872
Variant Present in the following documents:
  • Main text
  • BCJ-479-1759-s1.pdf
  • BCJ-479-1759.pdf
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Novel Variants in LRRK2 and GBA Identified in Latino Parkinson Disease Cohort Enriched for Caribbean Origin.

Frontiers In Neurology
Nuytemans, Karen K; Rajabli, Farid F; Bussies, Parker L PL; Celis, Katrina K; Scott, William K WK; Singer, Carlos C; Luca, Corneliu C CC; Vinuela, Angel A; Pericak-Vance, Margaret A MA; Vance, Jeff M JM
Publication Date: 2020

Variant appearance in text: LRRK2: Q1111H; rs78365431
PubMed Link: 33281709
Variant Present in the following documents:
  • Main text
  • fneur-11-573733.pdf
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Motivations for Participation in Parkinson Disease Genetic Research Among Hispanics versus Non-Hispanics.

Frontiers In Genetics
Nuytemans, Karen K; Manrique, Clara P CP; Uhlenberg, Aaron A; Scott, William K WK; Cuccaro, Michael L ML; Luca, Corneliu C CC; Singer, Carlos C; Vance, Jeffery M JM
Publication Date: 2019

Variant appearance in text: LRRK2: Q1111H
PubMed Link: 31379924
Variant Present in the following documents:
  • Main text
  • fgene-10-00658.pdf
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Genetics and genomics in Peru: Clinical and research perspective.

Molecular Genetics & Genomic Medicine
Guio, Heinner H; Poterico, Julio A JA; Levano, Kelly S KS; Cornejo-Olivas, Mario M; Mazzetti, Pilar P; Manassero-Morales, Gioconda G; Ugarte-Gil, Manuel F MF; Acevedo-Vásquez, Eduardo E; Dueñas-Roque, Milagros M; Piscoya, Alejandro A; Fujita, Ricardo R; Sanchez, Cesar C; Casavilca-Zambrano, Sandro S; Jaramillo-Valverde, Luis L; Sullcahuaman-Allende, Yasser Y; Iglesias-Pedraz, Juan M JM; Abarca-Barriga, Hugo H
Publication Date: 2018-11

Variant appearance in text: LRRK2: Q1111H
PubMed Link: 30584990
Variant Present in the following documents:
  • MGG3-6-873.pdf
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Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry.

Npj Parkinson'S Disease
Cornejo-Olivas, Mario M; Torres, Luis L; Velit-Salazar, Mario R MR; Inca-Martinez, Miguel M; Mazzetti, Pilar P; Cosentino, Carlos C; Micheli, Federico F; Perandones, Claudia C; Dieguez, Elena E; Raggio, Victor V; Tumas, Vitor V; Borges, Vanderci V; Ferraz, Henrique B HB; Rieder, Carlos R M CRM; Shumacher-Schuh, Artur A; Velez-Pardo, Carlos C; Jimenez-Del-Rio, Marlene M; Lopera, Francisco F; Chang-Castello, Jorge J; Andreé-Munoz, Brennie B; Waldherr, Sarah S; Yearout, Dora D; Zabetian, Cyrus P CP; Mata, Ignacio F IF
Publication Date: 2017

Variant appearance in text: LRRK2: Q1111H; rs78365431
PubMed Link: 28649619
Variant Present in the following documents:
  • Main text
  • 41531_2017_Article_20.pdf
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Analysis of protein-coding genetic variation in 60,706 humans.

Nature
Lek, Monkol M; Karczewski, Konrad J KJ; Minikel, Eric V EV; Samocha, Kaitlin E KE; Banks, Eric E; Fennell, Timothy T; O'Donnell-Luria, Anne H AH; Ware, James S JS; Hill, Andrew J AJ; Cummings, Beryl B BB; Tukiainen, Taru T; Birnbaum, Daniel P DP; Kosmicki, Jack A JA; Duncan, Laramie E LE; Estrada, Karol K; Zhao, Fengmei F; Zou, James J; Pierce-Hoffman, Emma E; Berghout, Joanne J; Cooper, David N DN; Deflaux, Nicole N; DePristo, Mark M; Do, Ron R; Flannick, Jason J; Fromer, Menachem M; Gauthier, Laura L; Goldstein, Jackie J; Gupta, Namrata N; Howrigan, Daniel D; Kiezun, Adam A; Kurki, Mitja I MI; Moonshine, Ami Levy AL; Natarajan, Pradeep P; Orozco, Lorena L; Peloso, Gina M GM; Poplin, Ryan R; Rivas, Manuel A MA; Ruano-Rubio, Valentin V; Rose, Samuel A SA; Ruderfer, Douglas M DM; Shakir, Khalid K; Stenson, Peter D PD; Stevens, Christine C; Thomas, Brett P BP; Tiao, Grace G; Tusie-Luna, Maria T MT; Weisburd, Ben B; Won, Hong-Hee HH; Yu, Dongmei D; Altshuler, David M DM; Ardissino, Diego D; Boehnke, Michael M; Danesh, John J; Donnelly, Stacey S; Elosua, Roberto R; Florez, Jose C JC; Gabriel, Stacey B SB; Getz, Gad G; Glatt, Stephen J SJ; Hultman, Christina M CM; Kathiresan, Sekar S; Laakso, Markku M; McCarroll, Steven S; McCarthy, Mark I MI; McGovern, Dermot D; McPherson, Ruth R; Neale, Benjamin M BM; Palotie, Aarno A; Purcell, Shaun M SM; Saleheen, Danish D; Scharf, Jeremiah M JM; Sklar, Pamela P; Sullivan, Patrick F PF; Tuomilehto, Jaakko J; Tsuang, Ming T MT; Watkins, Hugh C HC; Wilson, James G JG; Daly, Mark J MJ; MacArthur, Daniel G DG; ,
Publication Date: 2016-08-18

Variant appearance in text: LRRK2: Q1111H
PubMed Link: 27535533
Variant Present in the following documents:
  • NIHMS798561-supplement-supp_table20.xlsx, sheet 1
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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: Q1111H; rs78365431
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: Q1111H
PubMed Link: 21661047
Variant Present in the following documents:
  • Main text
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Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America.

Parkinsonism & Related Disorders
Mata, Ignacio F IF; Wilhoite, Greggory J GJ; Yearout, Dora D; Bacon, Justin A JA; Cornejo-Olivas, Mario M; Mazzetti, Pilar P; Marca, Victoria V; Ortega, Olimpio O; Acosta, Oscar O; Cosentino, Carlos C; Torres, Luis L; Medina, Angel C AC; Perez-Pastene, Carolina C; Díaz-Grez, Fernando F; Vilariño-Güell, Carles C; Venegas, Pablo P; Miranda, Marcelo M; Trujillo-Godoy, Osvaldo O; Layson, Luis L; Avello, Rodrigo R; Dieguez, Elena E; Raggio, Victor V; Micheli, Federico F; Perandones, Claudia C; Alvarez, Victoria V; Segura-Aguilar, Juan J; Farrer, Matthew J MJ; Zabetian, Cyrus P CP; Ross, Owen A OA
Publication Date: 2011-09

Variant appearance in text: LRRK2: 3333G>T; Q1111H; rs78365431
PubMed Link: 21632271
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: 3333G>T; Q1111H
PubMed Link: 20506312
Variant Present in the following documents:
  • humu0031-0763-SD1.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: Q1111H
PubMed Link: 18973807
Variant Present in the following documents:
  • Main text
View BVdb publication page