LRRK2 c.6035T>C ;(p.I2012T)

Variant ID: 12-40734182-T-C

NM_198578.3(LRRK2):c.6035T>C;(p.I2012T)

This variant was identified in 63 publications

View GRCh38 version.




Publications:


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: I2012T
PubMed Link: 37066923
Variant Present in the following documents:
  • Main text
  • jpd-13-jpd230021.pdf
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Neuroinflammation in Parkinson's Disease: From Gene to Clinic: A Systematic Review.

International Journal Of Molecular Sciences
Castillo-Rangel, Carlos C; Marin, Gerardo G; Hernández-Contreras, Karla Aketzalli KA; Vichi-Ramírez, Micheel Merari MM; Zarate-Calderon, Cristofer C; Torres-Pineda, Osvaldo O; Diaz-Chiguer, Dylan L DL; De la Mora González, David D; Gómez Apo, Erick E; Teco-Cortes, Javier Alejandro JA; Santos-Paez, Flor de María FM; Coello-Torres, María de Los Ángeles MLÁ; Baldoncini, Matías M; Reyes Soto, Gervith G; Aranda-Abreu, Gonzalo Emiliano GE; García, Luis I LI
Publication Date: 2023-03-17

Variant appearance in text: LRRK2: I2012T
PubMed Link: 36982866
Variant Present in the following documents:
  • Main text
  • ijms-24-05792.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: I2012T
PubMed Link: 36360174
Variant Present in the following documents:
  • genes-13-01937.pdf
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Precision Medicine in Parkinson's Disease: From Genetic Risk Signals to Personalized Therapy.

Brain Sciences
Straccia, Giulia G; Colucci, Fabiana F; Eleopra, Roberto R; Cilia, Roberto R
Publication Date: 2022-09-28

Variant appearance in text: LRRK2: I2012T
PubMed Link: 36291241
Variant Present in the following documents:
  • Main text
  • brainsci-12-01308.pdf
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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: I2012T
PubMed Link: 36011337
Variant Present in the following documents:
  • Main text
  • genes-13-01426.pdf
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Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study.

Genes
Vacchiano, Veria V; Bartoletti-Stella, Anna A; Rizzo, Giovanni G; Avoni, Patrizia P; Parchi, Piero P; Salvi, Fabrizio F; Liguori, Rocco R; Capellari, Sabina S
Publication Date: 2022-07-22

Variant appearance in text: LRRK2: I2012T
PubMed Link: 35893043
Variant Present in the following documents:
  • Main text
  • genes-13-01306.pdf
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LRRK2 and Proteostasis in Parkinson's Disease.

International Journal Of Molecular Sciences
Pérez-Carrión, María Dolores MD; Posadas, Inmaculada I; Solera, Javier J; Ceña, Valentín V
Publication Date: 2022-06-18

Variant appearance in text: LRRK2: I2012T
PubMed Link: 35743250
Variant Present in the following documents:
  • Main text
  • ijms-23-06808.pdf
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Altered neural cell junctions and ion-channels leading to disrupted neuron communication in Parkinson's disease.

Npj Parkinson'S Disease
Choudhury, Saptamita Paul SP; Bano, Sarika S; Sen, Srijon S; Suchal, Kapil K; Kumar, Saroj S; Nikolajeff, Fredrik F; Dey, Sanjay Kumar SK; Sharma, Vaibhav V
Publication Date: 2022-06-01

Variant appearance in text: LRRK2: I2012T
PubMed Link: 35650269
Variant Present in the following documents:
  • Main text
  • 41531_2022_Article_324.pdf
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Colonic Leucine-Rich Repeat Kinase 2 Expression Is Increased and Associated With Disease Severity in Patients With Parkinson's Disease.

Frontiers In Aging Neuroscience
Liao, Peng-Hsiang PH; Chiang, Han-Lin HL; Shun, Chia-Tung CT; Hang, Jen-Fan JF; Chiu, Han-Mo HM; Wu, Ming-Shiang MS; Lin, Chin-Hsien CH
Publication Date: 2021

Variant appearance in text: LRRK2: 6035T>C; I2012T
PubMed Link: 35126095
Variant Present in the following documents:
  • Main text
  • fnagi-13-819373.pdf
View BVdb publication page



Cognitive Impairment in Genetic Parkinson's Disease.

Parkinson'S Disease
Planas-Ballvé, A A; Vilas, D D
Publication Date: 2021

Variant appearance in text: LRRK2: I2012T
PubMed Link: 35003622
Variant Present in the following documents:
  • Main text
  • PD2021-8610285.pdf
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In vitro genome editing rescues parkinsonism phenotypes in induced pluripotent stem cells-derived dopaminergic neurons carrying LRRK2 p.G2019S mutation.

Stem Cell Research & Therapy
Chang, Kuo-Hsuan KH; Huang, Cheng-Yen CY; Ou-Yang, Chih-Hsin CH; Ho, Chang-Han CH; Lin, Han-Yi HY; Hsu, Chia-Lang CL; Chen, You-Tzung YT; Chou, Yu-Chi YC; Chen, Yi-Jing YJ; Chen, Ying Y; Lin, Jia-Li JL; Wang, Ji-Kuan JK; Lin, Pei-Wen PW; Lin, Ying-Ru YR; Lin, Miao-Hsia MH; Tseng, Chi-Kang CK; Lin, Chin-Hsien CH
Publication Date: 2021-09-22

Variant appearance in text: LRRK2: I2012T
PubMed Link: 34551822
Variant Present in the following documents:
  • Main text
  • 13287_2021_Article_2585.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: I2012T; rs34015634
PubMed Link: 34072005
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-14-00516.pdf
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A More Homogeneous Phenotype in Parkinson's Disease Related to R1441G Mutation in the LRRK2 Gene.

Frontiers In Neurology
Vinagre-Aragón, Ana A; Campo-Caballero, David D; Mondragón-Rezola, Elisabet E; Pardina-Vilella, Lara L; Hernandez Eguiazu, Haizea H; Gorostidi, Ana A; Croitoru, Ioana I; Bergareche, Alberto A; Ruiz-Martinez, Javier J
Publication Date: 2021

Variant appearance in text: LRRK2: I2012T
PubMed Link: 33763016
Variant Present in the following documents:
  • Main text
  • fneur-12-635396.pdf
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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: I2012T
PubMed Link: 33750819
Variant Present in the following documents:
  • Main text
  • 41531_2021_Article_170.pdf
View BVdb publication page



Advances of Mechanisms-Related Metabolomics in Parkinson's Disease.

Frontiers In Neuroscience
Zhang, Yanyan Y; Li, Jie J; Zhang, Xiao X; Song, Dongdong D; Tian, Tian T
Publication Date: 2021

Variant appearance in text: LRRK2: Ile2012Thr
PubMed Link: 33613180
Variant Present in the following documents:
  • Main text
  • fnins-15-614251.pdf
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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: I2012T
PubMed Link: 33494262
Variant Present in the following documents:
  • Main text
  • ijms-22-01045.pdf
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Association of rare variants in neurodegenerative genes with familial Alzheimer's disease.

Annals Of Clinical And Translational Neurology
Zhang, Weiwei W; Jiao, Bin B; Xiao, Tingting T; Liu, Xixi X; Liao, Xinxin X; Xiao, Xuewen X; Guo, Lina L; Yuan, Zhenhua Z; Yan, Xinxiang X; Tang, Beisha B; Shen, Lu L
Publication Date: 2020-10

Variant appearance in text: LRRK2: 6035T>C; I2012T
PubMed Link: 32941707
Variant Present in the following documents:
  • Main text
  • ACN3-7-1985-s003.xlsx, sheet 1
  • ACN3-7-1985.pdf
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Copy number variant hotspots in Han Taiwanese population induced pluripotent stem cell lines - lessons from establishing the Taiwan human disease iPSC Consortium Bank.

Journal Of Biomedical Science
Huang, Ching-Ying CY; Li, Ling-Hui LH; Hsu, Wan-Tseng WT; Cheng, Yu-Che YC; Nicholson, Martin W MW; Liu, Chun-Lin CL; Ting, Chien-Yu CY; Ko, Hui-Wen HW; Syu, Shih-Han SH; Wen, Cheng-Hao CH; Yan, Zhuge Z; Huang, Hsiang-Po HP; Su, Hong-Lin HL; Chiang, Po-Min PM; Shen, Chia-Ning CN; Chen, Hsin-Fu HF; Yen, B Lin Ju BLJ; Lu, Huai-En HE; Hwang, Shiaw-Min SM; Chiou, Shih-Hwa SH; Ho, Hong-Nerng HN; Wu, Jer-Yuarn JY; Kamp, Timothy J TJ; Wu, Joseph C JC; Hsieh, Patrick C H PCH
Publication Date: 2020-09-04

Variant appearance in text: LRRK2: I2012T
PubMed Link: 32887585
Variant Present in the following documents:
  • 12929_2020_682_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Role of LRRK2 variant p.Gly2019Ser in patients with Parkinsonism.

The Indian Journal Of Medical Research
Sadhukhan, Dipanwita D; Biswas, Arindam A; Bhaduri, Arunima A; Sarkar, Neelanjana N; Biswas, Atanu A; Das, Shyamal K SK; Banerjee, Tapas K TK; Ray, Kunal K; Ray, Jharna J
Publication Date: 2020-06

Variant appearance in text: LRRK2: Ile2012Thr
PubMed Link: 32719233
Variant Present in the following documents:
  • Main text
  • IJMR-151-592.pdf
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Dopaminergic neurodegeneration induced by Parkinson's disease-linked G2019S LRRK2 is dependent on kinase and GTPase activity.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Nguyen, An Phu Tran APT; Tsika, Elpida E; Kelly, Kaela K; Levine, Nathan N; Chen, Xi X; West, Andrew B AB; Boularand, Sylviane S; Barneoud, Pascal P; Moore, Darren J DJ
Publication Date: 2020-07-21

Variant appearance in text: LRRK2: I2012T
PubMed Link: 32631998
Variant Present in the following documents:
  • Main text
View BVdb publication page



LRRK2 and α-Synuclein: Distinct or Synergistic Players in Parkinson's Disease?

Frontiers In Neuroscience
O'Hara, Darren M DM; Pawar, Grishma G; Kalia, Suneil K SK; Kalia, Lorraine V LV
Publication Date: 2020

Variant appearance in text: LRRK2: I2012T
PubMed Link: 32625052
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: I2012T
PubMed Link: 32498494
Variant Present in the following documents:
  • jmd-19080.pdf
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: LRRK2: 6035T>C; Ile2012Thr; rs34015634
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Identification of biomarkers associated with Parkinson's disease by gene expression profiling studies and bioinformatics analysis.

Aims Neuroscience
Krokidis, Marios G MG
Publication Date: 2019

Variant appearance in text: LRRK2: Ile2012Thr
PubMed Link: 32341987
Variant Present in the following documents:
  • Main text
  • neurosci-06-04-333.pdf
View BVdb publication page



LRRK2 Mutations and Asian Disease-Associated Variants in the First Parkinson's Disease Cohort from Kazakhstan.

Parkinson'S Disease
Kaiyrzhanov, Rauan R; Aitkulova, Akbota A; Shashkin, Chingiz C; Zharkinbekova, Nazira N; Rizig, Mie M; Zholdybayeva, Elena E; Jarmukhanov, Zharkyn Z; Akhmetzhanov, Vadim V; Kaishibayeva, Gulnaz G; Khaibullin, Talgat T; Karimova, Altynay A; Akshulakov, Serik S; Bralov, Askhat A; Kissamedenov, Nurlan N; Seidinova, Zhanar Z; Taskinbayeva, Anjela A; Muratbaikyzy, Aliya A; Houlden, Henry H
Publication Date: 2020

Variant appearance in text: LRRK2: Ile2012Thr
PubMed Link: 32148752
Variant Present in the following documents:
  • Main text
  • PD2020-2763838.pdf
View BVdb publication page



The role of Rab GTPases in the pathobiology of Parkinson' disease.

Current Opinion In Cell Biology
Bonet-Ponce, Luis L; Cookson, Mark R MR
Publication Date: 2019-08

Variant appearance in text: LRRK2: I2012T
PubMed Link: 31054512
Variant Present in the following documents:
  • Main text
View BVdb publication page



Using induced pluripotent stem cell neuronal models to study neurodegenerative diseases.

Biochimica Et Biophysica Acta. Molecular Basis Of Disease
Zhang, Xinwen X; Hu, Di D; Shang, Yutong Y; Qi, Xin X
Publication Date: 2020-04-01

Variant appearance in text: LRRK2: I2012T
PubMed Link: 30898538
Variant Present in the following documents:
  • Main text
View BVdb publication page



A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing.

Movement Disorders : Official Journal Of The Movement Disorder Society
Lin, Chin-Hsien CH; Chen, Pei-Lung PL; Tai, Chun-Hwei CH; Lin, Hang-I HI; Chen, Chih-Shan CS; Chen, Meng-Ling ML; Wu, Ruey-Meei RM
Publication Date: 2019-04

Variant appearance in text: LRRK2: I2012T
PubMed Link: 30788857
Variant Present in the following documents:
  • Main text
  • MDS-34-506.pdf
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The role of posttranslational modifications of α-synuclein and LRRK2 in Parkinson's disease: Potential contributions of environmental factors.

Biochimica Et Biophysica Acta. Molecular Basis Of Disease
Pajarillo, Edward E; Rizor, Asha A; Lee, Jayden J; Aschner, Michael M; Lee, Eunsook E
Publication Date: 2019-08-01

Variant appearance in text: LRRK2: I2012T
PubMed Link: 30481588
Variant Present in the following documents:
  • Main text
View BVdb publication page



LRRK 2 gene mutations in the pathophysiology of the ROCO domain and therapeutic targets for Parkinson's disease: a review.

Journal Of Biomedical Science
Chen, Meng-Ling ML; Wu, Ruey-Meei RM
Publication Date: 2018-06-14

Variant appearance in text: LRRK2: I2012T
PubMed Link: 29903014
Variant Present in the following documents:
  • Main text
  • 12929_2018_Article_454.pdf
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Mutant LRRK2 mediates peripheral and central immune responses leading to neurodegeneration in vivo.

Brain : A Journal Of Neurology
Kozina, Elena E; Sadasivan, Shankar S; Jiao, Yun Y; Dou, Yuchen Y; Ma, Zhijun Z; Tan, Haiyan H; Kodali, Kiran K; Shaw, Timothy T; Peng, Junmin J; Smeyne, Richard J RJ
Publication Date: 2018-06-01

Variant appearance in text: LRRK2: I2012T
PubMed Link: 29800472
Variant Present in the following documents:
  • Main text
View BVdb publication page



Case-control analysis of LRRK2 protective variants in Essential Tremor.

Scientific Reports
Ng, Adeline S L ASL; Ng, Ebonne Y L EYL; Tan, Yi Jayne YJ; Prakash, Kumar M KM; Au, Wing Lok WL; Tan, Louis C S LCS; Tan, Eng-King EK
Publication Date: 2018-03-28

Variant appearance in text: LRRK2: I2012T
PubMed Link: 29593234
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_23711.pdf
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Intrafamilial phenotypic heterogeneity in a Taiwanese family with a MAPT p.R5H mutation: a case report and literature review.

Bmc Neurology
Lin, Hui-Chi HC; Lin, Chin-Hsien CH; Chen, Pei-Lung PL; Cheng, Shih-Jung SJ; Chen, Pei-Hao PH
Publication Date: 2017-09-18

Variant appearance in text: LRRK2: I2012T
PubMed Link: 28923025
Variant Present in the following documents:
  • 12883_2017_Article_966.pdf
View BVdb publication page



GTP binding regulates cellular localization of Parkinson's disease-associated LRRK2.

Human Molecular Genetics
Blanca Ramírez, Marian M; Lara Ordóñez, Antonio Jesús AJ; Fdez, Elena E; Madero-Pérez, Jesús J; Gonnelli, Adriano A; Drouyer, Matthieu M; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM; Bubacco, Luigi L; Greggio, Elisa E; Hilfiker, Sabine S
Publication Date: 2017-07-15

Variant appearance in text: LRRK2: I2012T
PubMed Link: 28453723
Variant Present in the following documents:
  • Main text
  • ddx161.pdf
View BVdb publication page



Association of LRRK2 R1628P variant with Parkinson's disease in Ethnic Han-Chinese and subgroup population.

Scientific Reports
Zhang, Pei P; Wang, Qingzhi Q; Jiao, Fengjuan F; Yan, Jianguo J; Chen, Lijun L; He, Feng F; Zhang, Qian Q; Tian, Bo B
Publication Date: 2016-11-04

Variant appearance in text: LRRK2: I2012T
PubMed Link: 27812003
Variant Present in the following documents:
  • Main text
  • srep35171.pdf
View BVdb publication page



Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance.

Journal Of Neurochemistry
Hernandez, Dena G DG; Reed, Xylena X; Singleton, Andrew B AB
Publication Date: 2016-10

Variant appearance in text: LRRK2: I2012T
PubMed Link: 27090875
Variant Present in the following documents:
  • Main text
View BVdb publication page