LRRK2 c.4193G>A ;(p.R1398H)

Variant ID: 12-40702911-G-A

NM_198578.3(LRRK2):c.4193G>A;(p.R1398H)

This variant was identified in 108 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: R1398H
PubMed Link: 37189360
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00612.pdf
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Immunological Features of LRRK2 Function and Its Role in the Gut-Brain Axis Governing Parkinson's Disease.

Journal Of Parkinson'S Disease
Peter, Inga I; Strober, Warren W
Publication Date: 2023-04-10

Variant appearance in text: LRRK2: R1398H
PubMed Link: 37066923
Variant Present in the following documents:
  • Main text
  • jpd-13-jpd230021.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: R1398H
PubMed Link: 37021623
Variant Present in the following documents:
  • Main text
  • ACN3-10-850.pdf
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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: LRRK2: R1398H
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
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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: R1398H; rs7133914
PubMed Link: 36972292
Variant Present in the following documents:
  • Main text
  • ppat.1011260.pdf
View BVdb publication page



Editorial: Genetic and molecular diversity in Parkinson's disease.

Frontiers In Aging Neuroscience
Abdul Murad, Nor Azian NA; Sulaiman, Siti Aishah SA; Ahmad-Annuar, Azlina A; Mohamed Ibrahim, Norlinah N; Mohamed, Wael W; Md Rani, Shahrul Azmin SA; Mok, Kin Ying KY
Publication Date: 2022

Variant appearance in text: LRRK2: R1398H
PubMed Link: 36589546
Variant Present in the following documents:
  • fnagi-14-1094914.pdf
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Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson's Disease.

Genes
Kim, Jeffrey J; Daadi, Etienne W EW; Oh, Thomas T; Daadi, Elyas S ES; Daadi, Marcel M MM
Publication Date: 2022-10-25

Variant appearance in text: LRRK2: R1398H
PubMed Link: 36360174
Variant Present in the following documents:
  • Main text
  • genes-13-01937.pdf
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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: LRRK2: 4193G>A; Arg1398His
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



Structural Insights and Development of LRRK2 Inhibitors for Parkinson's Disease in the Last Decade.

Genes
Thakur, Gunjan G; Kumar, Vikas V; Lee, Keun Woo KW; Won, Chungkil C
Publication Date: 2022-08-11

Variant appearance in text: LRRK2: R1398H
PubMed Link: 36011337
Variant Present in the following documents:
  • Main text
  • genes-13-01426.pdf
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The LRRK2 signaling network converges on a centriolar phospho-Rab10/RILPL1 complex to cause deficits in centrosome cohesion and cell polarization.

Biology Open
Lara Ordóñez, Antonio Jesús AJ; Fasiczka, Rachel R; Fernández, Belén B; Naaldijk, Yahaira Y; Fdez, Elena E; Blanca Ramírez, Marian M; Phan, Sébastien S; Boassa, Daniela D; Hilfiker, Sabine S
Publication Date: 2022-08-15

Variant appearance in text: LRRK2: R1398H
PubMed Link: 35776681
Variant Present in the following documents:
  • Main text
  • biolopen-11-059468.pdf
  • biolopen-11-059468-s1.pdf
View BVdb publication page



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: R1398H
PubMed Link: 35708213
Variant Present in the following documents:
  • Main text
View BVdb publication page



PepNN: a deep attention model for the identification of peptide binding sites.

Communications Biology
Abdin, Osama O; Nim, Satra S; Wen, Han H; Kim, Philip M PM
Publication Date: 2022-05-26

Variant appearance in text: LRRK2: R1398H
PubMed Link: 35618814
Variant Present in the following documents:
  • 42003_2022_3445_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



LRRK2 dynamics analysis identifies allosteric control of the crosstalk between its catalytic domains.

Plos Biology
Weng, Jui-Hung JH; Aoto, Phillip C PC; Lorenz, Robin R; Wu, Jian J; Schmidt, Sven H SH; Manschwetus, Jascha T JT; Kaila-Sharma, Pallavi P; Silletti, Steve S; Mathea, Sebastian S; Chatterjee, Deep D; Knapp, Stefan S; Herberg, Friedrich W FW; Taylor, Susan S SS
Publication Date: 2022-02

Variant appearance in text: LRRK2: R1398H
PubMed Link: 35192607
Variant Present in the following documents:
  • Main text
  • pbio.3001427.pdf
View BVdb publication page



LRRK2 mutant knock-in mouse models: therapeutic relevance in Parkinson's disease.

Translational Neurodegeneration
Chang, Eunice Eun Seo EES; Ho, Philip Wing-Lok PW; Liu, Hui-Fang HF; Pang, Shirley Yin-Yu SY; Leung, Chi-Ting CT; Malki, Yasine Y; Choi, Zoe Yuen-Kiu ZY; Ramsden, David Boyer DB; Ho, Shu-Leong SL
Publication Date: 2022-02-14

Variant appearance in text: LRRK2: R1398H
PubMed Link: 35152914
Variant Present in the following documents:
  • Main text
View BVdb publication page



High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic.

Life (Basel, Switzerland)
Kolarikova, Kristyna K; Vodicka, Radek R; Vrtel, Radek R; Stellmachova, Julia J; Prochazka, Martin M; Mensikova, Katerina K; Bartonikova, Tereza T; Furst, Tomas T; Kanovsky, Petr P; Geryk, Jan J
Publication Date: 2022-01-14

Variant appearance in text: LRRK2: R1398H
PubMed Link: 35054514
Variant Present in the following documents:
  • Main text
  • life-12-00121.pdf
View BVdb publication page



High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic.

Life (Basel, Switzerland)
Kolarikova, Kristyna K; Vodicka, Radek R; Vrtel, Radek R; Stellmachova, Julia J; Prochazka, Martin M; Mensikova, Katerina K; Bartonikova, Tereza T; Furst, Tomas T; Kanovsky, Petr P; Geryk, Jan J
Publication Date: 2022-01-14

Variant appearance in text: LRRK2: R1398H
PubMed Link: 35054514
Variant Present in the following documents:
  • Main text
  • life-12-00121.pdf
View BVdb publication page



Intestinal Inflammation and Parkinson's Disease.

Aging And Disease
Li, Yu Y; Chen, Yuanyuan Y; Jiang, Lili L; Zhang, Jingyu J; Tong, Xuhui X; Chen, Dapeng D; Le, Weidong W
Publication Date: 2021-12

Variant appearance in text: LRRK2: R1398H
PubMed Link: 34881085
Variant Present in the following documents:
  • Main text
View BVdb publication page



α-Synuclein antisense transcript SNCA-AS1 regulates synapses- and aging-related genes suggesting its implication in Parkinson's disease.

Aging Cell
Rey, Federica F; Pandini, Cecilia C; Messa, Letizia L; Launi, Rossella R; Barzaghini, Bianca B; Zangaglia, Roberta R; Raimondi, Manuela Teresa MT; Gagliardi, Stella S; Cereda, Cristina C; Zuccotti, Gian Vincenzo GV; Carelli, Stephana S
Publication Date: 2021-11-19

Variant appearance in text: LRRK2: R1398H
PubMed Link: 34799977
Variant Present in the following documents:
  • ACEL-20-e13504-s010.xlsx, sheet 1
  • ACEL-20-e13504-s021.xlsx, sheet 1
View BVdb publication page



α-Synuclein antisense transcript SNCA-AS1 regulates synapses- and aging-related genes suggesting its implication in Parkinson's disease.

Aging Cell
Rey, Federica F; Pandini, Cecilia C; Messa, Letizia L; Launi, Rossella R; Barzaghini, Bianca B; Zangaglia, Roberta R; Raimondi, Manuela Teresa MT; Gagliardi, Stella S; Cereda, Cristina C; Zuccotti, Gian Vincenzo GV; Carelli, Stephana S
Publication Date: 2021-12

Variant appearance in text: LRRK2: R1398H
PubMed Link: 34799977
Variant Present in the following documents:
  • ACEL-20-e13504-s021.xlsx, sheet 1
  • ACEL-20-e13504-s010.xlsx, sheet 1
View BVdb publication page



Coding and Noncoding Variation in LRRK2 and Parkinson's Disease Risk.

Movement Disorders : Official Journal Of The Movement Disorder Society
Lake, Julie J; Reed, Xylena X; Langston, Rebekah G RG; Nalls, Mike A MA; Gan-Or, Ziv Z; Cookson, Mark R MR; Singleton, Andrew B AB; Blauwendraat, Cornelis C; Leonard, Hampton L HL; ,
Publication Date: 2022-01

Variant appearance in text: LRRK2: R1398H; rs7133914
PubMed Link: 34542912
Variant Present in the following documents:
  • MDS-37-95-s003.xlsx, sheet 5
  • MDS-37-95-s003.xlsx, sheet 6
  • MDS-37-95-s003.xlsx, sheet 4
  • MDS-37-95-s003.xlsx, sheet 9
  • MDS-37-95-s003.xlsx, sheet 1
  • MDS-37-95-s003.xlsx, sheet 7
  • MDS-37-95-s003.xlsx, sheet 8
View BVdb publication page



LRRK2 Targeting Strategies as Potential Treatment of Parkinson's Disease.

Biomolecules
Wojewska, Dominika Natalia DN; Kortholt, Arjan A
Publication Date: 2021-07-26

Variant appearance in text: LRRK2: R1398H
PubMed Link: 34439767
Variant Present in the following documents:
  • Main text
  • biomolecules-11-01101.pdf
View BVdb publication page



The Genetics of Parkinson's Disease and Implications for Clinical Practice.

Genes
Day, Jacob Oliver JO; Mullin, Stephen S
Publication Date: 2021-06-30

Variant appearance in text: LRRK2: R1398H
PubMed Link: 34208795
Variant Present in the following documents:
  • Main text
  • genes-12-01006.pdf
View BVdb publication page



Understanding LRRK2 kinase activity in preclinical models and human subjects through quantitative analysis of LRRK2 and pT73 Rab10.

Scientific Reports
Wang, Xiang X; Negrou, Elvira E; Maloney, Michael T MT; Bondar, Vitaliy V VV; Andrews, Shan V SV; Montalban, Manuel M; Llapashtica, Ceyda C; Maciuca, Romeo R; Nguyen, Hoang H; Solanoy, Hilda H; Arguello, Annie A; Przybyla, Laralynne L; Moerke, Nathan J NJ; Huntwork-Rodriguez, Sarah S; Henry, Anastasia G AG
Publication Date: 2021-06-18

Variant appearance in text: LRRK2: R1398H; rs7133914
PubMed Link: 34145320
Variant Present in the following documents:
  • Main text
  • 41598_2021_91943_MOESM1_ESM.pdf
  • 41598_2021_Article_91943.pdf
View BVdb publication page



Genomic Markers for Essential Tremor.

Pharmaceuticals (Basel, Switzerland)
Jiménez-Jiménez, Félix Javier FJ; Alonso-Navarro, Hortensia H; García-Martín, Elena E; Álvarez, Ignacio I; Pastor, Pau P; Agúndez, José A G JAG
Publication Date: 2021-05-27

Variant appearance in text: PARK8: R1398H; rs7133914
PubMed Link: 34072005
Variant Present in the following documents:
  • Main text
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: LRRK2: 4193G>A; R1398H; rs7133914
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Oligomerization of Lrrk controls actin severing and α-synuclein neurotoxicity in vivo.

Molecular Neurodegeneration
Sarkar, Souvarish S; Bardai, Farah F; Olsen, Abby L AL; Lohr, Kelly M KM; Zhang, Ying-Yi YY; Feany, Mel B MB
Publication Date: 2021-05-24

Variant appearance in text: LRRK2: R1398H
PubMed Link: 34030727
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R1398H
PubMed Link: 33922322
Variant Present in the following documents:
  • Main text
View BVdb publication page



Current Update on Clinically Relevant Sleep Issues in Parkinson's Disease: A Narrative Review.

Journal Of Parkinson'S Disease
Suzuki, Keisuke K
Publication Date: 2021

Variant appearance in text: LRRK2: R1398H
PubMed Link: 33896849
Variant Present in the following documents:
  • Main text
View BVdb publication page



Editorial: Celebrating the Diversity of Genetic Research to Dissect the Pathogenesis of Parkinson's Disease.

Frontiers In Neurology
Farrer, Matthew J MJ; Bardien, Soraya S; Hattori, Nobutaka N; Lesage, Suzanne S; Ross, Owen A OA; Mellick, George D GD; Kruger, Rejko R
Publication Date: 2021

Variant appearance in text: LRRK2: R1398H
PubMed Link: 33889126
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: LRRK2: 4193G>A; R1398H; rs7133914
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
View BVdb publication page



Is LRRK2 the missing link between inflammatory bowel disease and Parkinson's disease?

Npj Parkinson'S Disease
Herrick, Mary K MK; Tansey, Malú G MG
Publication Date: 2021-03-09

Variant appearance in text: LRRK2: R1398H
PubMed Link: 33750819
Variant Present in the following documents:
  • Main text
  • 41531_2021_Article_170.pdf
View BVdb publication page



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: 4193G>A; R1398H; rs7133914
PubMed Link: 33494262
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Targets from LRRK2 Rescue Phenotypes.

Cells
Toh, Joanne J; Chua, Ling Ling LL; Ho, Patrick P; Sandanaraj, Edwin E; Tang, Carol C; Wang, Hongyan H; Tan, Eng King EK
Publication Date: 2021-01-05

Variant appearance in text: LRRK2: R1398H
PubMed Link: 33466414
Variant Present in the following documents:
  • Main text
  • cells-10-00076.pdf
View BVdb publication page



Accelerated telomere shortening independent of LRRK2 variants in Chinese patients with Parkinson's disease.

Aging
Wu, Yue Y; Pei, Yuqing Y; Yang, Zhuo Z; Li, Kexin K; Lou, Xiaoying X; Cui, Wei W
Publication Date: 2020-10-29

Variant appearance in text: LRRK2: R1398H
PubMed Link: 33122450
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allosteric inhibition of LRRK2, where are we now.

Biochemical Society Transactions
Soliman, Ahmed A; Cankara, Fatma Nihan FN; Kortholt, Arjan A
Publication Date: 2020-10-30

Variant appearance in text: LRRK2: R1398H
PubMed Link: 33079169
Variant Present in the following documents:
  • Main text
  • BST-48-2185.pdf
View BVdb publication page



Nrf2/Wnt resilience orchestrates rejuvenation of glia-neuron dialogue in Parkinson's disease.

Redox Biology
Marchetti, Bianca B
Publication Date: 2020-09

Variant appearance in text: LRRK2: R1398H
PubMed Link: 32863224
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Risk Factors for Essential Tremor: A Review.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)
Siokas, Vasileios V; Aloizou, Athina-Maria AM; Tsouris, Zisis Z; Liampas, Ioannis I; Aslanidou, Paraskevi P; Dastamani, Metaxia M; Brotis, Alexandros G AG; Bogdanos, Dimitrios P DP; Hadjigeorgiou, Georgios M GM; Dardiotis, Efthimios E
Publication Date: 2020-06-11

Variant appearance in text: LRRK2: R1398H
PubMed Link: 32775018
Variant Present in the following documents:
  • tohm-10-1-67-s2.pdf
  • tohm-10-1-67.pdf
View BVdb publication page



Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)
Bagyinszky, Eva E; Lee, Hyon H; Pyun, Jung Min JM; Suh, Jeewon J; Kang, Min Ju MJ; Vo, Van Giau VG; An, Seong Soo A SSA; Park, Kee Hyung KH; Kim, SangYun S
Publication Date: 2020-06-14

Variant appearance in text: LRRK2: R1398H; rs7133914
PubMed Link: 32545847
Variant Present in the following documents:
  • Main text
View BVdb publication page



LRRK2 at the Interface Between Peripheral and Central Immune Function in Parkinson's.

Frontiers In Neuroscience
Wallings, Rebecca L RL; Herrick, Mary K MK; Tansey, Malú Gámez MG
Publication Date: 2020

Variant appearance in text: LRRK2: R1398H
PubMed Link: 32508566
Variant Present in the following documents:
  • Main text
View BVdb publication page



Long-Term Outcomes of Genetic Parkinson's Disease.

Journal Of Movement Disorders
Aasly, Jan O JO
Publication Date: 2020-05

Variant appearance in text: LRRK2: R1398H
PubMed Link: 32498494
Variant Present in the following documents:
  • Main text
  • jmd-19080.pdf
View BVdb publication page



Leucine Rich Repeat Kinase 2 and Innate Immunity.

Frontiers In Neuroscience
Ahmadi Rastegar, Diba D; Dzamko, Nicolas N
Publication Date: 2020

Variant appearance in text: LRRK2: R1398H
PubMed Link: 32210756
Variant Present in the following documents:
  • Main text
  • fnins-14-00193.pdf
View BVdb publication page