LRRK2 c.4883G>C ;(p.R1628P)

Variant ID: 12-40713845-G-C

NM_198578.3(LRRK2):c.4883G>C;(p.R1628P)

This variant was identified in 195 publications

View GRCh38 version.




Publications:


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: R1628P
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: R1628P
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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Genetics of Multiple System Atrophy and Progressive Supranuclear Palsy: A Systemized Review of the Literature.

International Journal Of Molecular Sciences
Bougea, Anastasia A
Publication Date: 2023-03-09

Variant appearance in text: LRRK2: R1628P
PubMed Link: 36982356
Variant Present in the following documents:
  • Main text
  • ijms-24-05281.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: R1628P
PubMed Link: 36972292
Variant Present in the following documents:
  • Main text
  • ppat.1011260.pdf
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Recent Advances in the Treatment of Genetic Forms of Parkinson's Disease: Hype or Hope?

Cells
Cavallieri, Francesco F; Cury, Rubens G RG; Guimarães, Thiago T; Fioravanti, Valentina V; Grisanti, Sara S; Rossi, Jessica J; Monfrini, Edoardo E; Zedde, Marialuisa M; Di Fonzo, Alessio A; Valzania, Franco F; Moro, Elena E
Publication Date: 2023-02-27

Variant appearance in text: LRRK2: R1628P
PubMed Link: 36899899
Variant Present in the following documents:
  • Main text
  • cells-12-00764.pdf
View BVdb publication page



The function of Golgi apparatus in LRRK2-associated Parkinson's disease.

Frontiers In Molecular Neuroscience
Wei, Yonghang Y; Awan, Maher Un Nisa MUN; Bai, Liping L; Bai, Jie J
Publication Date: 2023

Variant appearance in text: LRRK2: R1628P
PubMed Link: 36896008
Variant Present in the following documents:
  • Main text
  • fnmol-16-1097633.pdf
View BVdb publication page



Clinical and genetic analysis of Vietnamese patients diagnosed with early-onset Parkinson's disease.

Brain And Behavior
Do, Minh Duc MD; Tran, Tai Ngoc TN; Luong, An Bac AB; Le, Linh Hoang Gia LHG; Van Le, Tuan T; Le, Khuong Thai KT; Van Vo, Niem Thanh NT; Le, Thuc-Nhi Nguyen TN; Vu, Hoang Anh HA; Mai, Thao Phuong TP
Publication Date: 2023-03-06

Variant appearance in text: LRRK2: 4883G>C; Arg1628Pro; rs33949390
PubMed Link: 36879366
Variant Present in the following documents:
  • Main text
  • BRB3-13-e2950.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: R1628P
PubMed Link: 36589546
Variant Present in the following documents:
  • Main text
  • fnagi-14-1094914.pdf
View BVdb publication page



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: R1628P
PubMed Link: 36360174
Variant Present in the following documents:
  • Main text
  • genes-13-01937.pdf
View BVdb publication page



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: R1628P
PubMed Link: 36291241
Variant Present in the following documents:
  • Main text
  • brainsci-12-01308.pdf
View BVdb publication page



QEEG abnormalities in cognitively unimpaired patients with delirium.

Journal Of Neurology, Neurosurgery, And Psychiatry
Carrarini, Claudia C; Calisi, Dario D; De Rosa, Matteo Alessandro MA; Di Iorio, Angelo A; D'Ardes, Damiano D; Pellegrino, Raffaello R; Gazzina, Stefano S; Pilotto, Andrea A; Arighi, Andrea A; Carandini, Tiziana T; Cagnin, Annachiara A; Mozzetta, Stefano S; Gallucci, Maurizio M; Bonifati, Domenico Marco DM; Costa, Cinzia C; D'Antonio, Fabrizia F; Bruno, Giuseppe G; Cipollone, Francesco F; Babiloni, Claudio C; Padovani, Alessandro A; Onofrj, Marco M; Bonanni, Laura L
Publication Date: 2022-10-19

Variant appearance in text: LRRK2: R1628P
PubMed Link: 36261290
Variant Present in the following documents:
  • jnnp-2022-330010.pdf
View BVdb publication page



Mitophagy and reactive oxygen species interplay in Parkinson's disease.

Npj Parkinson'S Disease
Xiao, Bin B; Kuruvilla, Joshua J; Tan, Eng-King EK
Publication Date: 2022-10-18

Variant appearance in text: LRRK2: R1628P
PubMed Link: 36257956
Variant Present in the following documents:
  • Main text
  • 41531_2022_Article_402.pdf
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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: LRRK2: R1628P
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
  • Table_3.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: R1628P
PubMed Link: 36011337
Variant Present in the following documents:
  • Main text
  • genes-13-01426.pdf
View BVdb publication page



Connectivity of corticostriatal circuits in nonmanifesting LRRK2 G2385R and R1628P carriers.

Cns Neuroscience & Therapeutics
Zhang, Dongling D; Yao, Junye J; Ma, Jinghong J; Gao, Linlin L; Sun, Junyan J; Fang, Jiliang J; He, Hongjian H; Wu, Tao T
Publication Date: 2022-12

Variant appearance in text: LRRK2: R1628P
PubMed Link: 35934920
Variant Present in the following documents:
  • Main text
  • CNS-28-2024.pdf
View BVdb publication page



Effect Modification between Genes and Environment and Parkinson's Disease Risk.

Annals Of Neurology
Periñán, Maria Teresa MT; Brolin, Kajsa K; Bandres-Ciga, Sara S; Blauwendraat, Cornelis C; Klein, Christine C; Gan-Or, Ziv Z; Singleton, Andrew A; Gomez-Garre, Pilar P; Swanberg, Maria M; Mir, Pablo P; Noyce, Alastair A
Publication Date: 2022-11

Variant appearance in text: LRRK2: Arg1628Pro
PubMed Link: 35913124
Variant Present in the following documents:
  • Main text
  • ANA-92-715.pdf
View BVdb publication page



Molecular genetics of Parkinson's disease: Contributions and global trends.

Journal Of Human Genetics
Funayama, Manabu M; Nishioka, Kenya K; Li, Yuanzhe Y; Hattori, Nobutaka N
Publication Date: 2022-07-11

Variant appearance in text: LRRK2: R1628P
PubMed Link: 35821405
Variant Present in the following documents:
  • Main text
  • 10038_2022_Article_1058.pdf
View BVdb publication page



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: R1628P
PubMed Link: 35776681
Variant Present in the following documents:
  • Main text
  • biolopen-11-059468.pdf
View BVdb publication page



Cdk5 phosphorylation-induced SIRT2 nuclear translocation promotes the death of dopaminergic neurons in Parkinson's disease.

Npj Parkinson'S Disease
Yan, Jianguo J; Zhang, Pei P; Tan, Jie J; Li, Mao M; Xu, Xingfeng X; Shao, Xiaoyun X; Fang, Fang F; Zou, Zhenyou Z; Zhou, Yali Y; Tian, Bo B
Publication Date: 2022-04-20

Variant appearance in text: LRRK2: R1628P
PubMed Link: 35443760
Variant Present in the following documents:
  • 41531_2022_Article_311.pdf
View BVdb publication page



Genetic heterogeneity on sleep disorders in Parkinson's disease: a systematic review and meta-analysis.

Translational Neurodegeneration
Huang, Jingxuan J; Cheng, Yangfan Y; Li, Chunyu C; Shang, Huifang H
Publication Date: 2022-04-08

Variant appearance in text: LRRK2: R1628P
PubMed Link: 35395825
Variant Present in the following documents:
  • 40035_2022_Article_294.pdf
View BVdb publication page



Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India.

Journal Of Movement Disorders
Holla, Vikram Venkappayya VV; Neeraja, Koti K; Stezin, Albert A; Prasad, Shweta S; Surisetti, Bharat Kumar BK; Netravathi, Manjunath M; Kamble, Nitish N; Yadav, Ravi R; Pal, Pramod Kumar PK
Publication Date: 2022-05

Variant appearance in text: LRRK2: 4883G>C; Arg1628Pro
PubMed Link: 35287262
Variant Present in the following documents:
  • jmd-21146-suppl3.pdf
View BVdb publication page



Inflammation and immune dysfunction in Parkinson disease.

Nature Reviews. Immunology
Tansey, Malú Gámez MG; Wallings, Rebecca L RL; Houser, Madelyn C MC; Herrick, Mary K MK; Keating, Cody E CE; Joers, Valerie V
Publication Date: 2022-11

Variant appearance in text: LRRK2: R1628P
PubMed Link: 35246670
Variant Present in the following documents:
  • Main text
  • 41577_2022_Article_684.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: R1628P
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: R1628P
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: R1628P
PubMed Link: 35054514
Variant Present in the following documents:
  • Main text
  • life-12-00121.pdf
View BVdb publication page



Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases
Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E
Publication Date: 2021-12

Variant appearance in text: LRRK2: R1628P; rs33949390
PubMed Link: 34879060
Variant Present in the following documents:
  • pntd.0010029.s004.xlsx, sheet 1
View BVdb publication page



Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases
Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E
Publication Date: 2021-12-08

Variant appearance in text: LRRK2: R1628P; rs33949390
PubMed Link: 34879060
Variant Present in the following documents:
  • pntd.0010029.s004.xlsx, sheet 1
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: R1628P
PubMed Link: 34630269
Variant Present in the following documents:
  • Main text
View BVdb publication page



Modeling alpha-synuclein pathology in a human brain-chip to assess blood-brain barrier disruption.

Nature Communications
Pediaditakis, Iosif I; Kodella, Konstantia R KR; Manatakis, Dimitris V DV; Le, Christopher Y CY; Hinojosa, Chris D CD; Tien-Street, William W; Manolakos, Elias S ES; Vekrellis, Kostas K; Hamilton, Geraldine A GA; Ewart, Lorna L; Rubin, Lee L LL; Karalis, Katia K
Publication Date: 2021-10-08

Variant appearance in text: rs33949390
PubMed Link: 34625559
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_26066.pdf
View BVdb publication page



Emerging hiPSC Models for Drug Discovery in Neurodegenerative Diseases.

International Journal Of Molecular Sciences
Trudler, Dorit D; Ghatak, Swagata S; Lipton, Stuart A SA
Publication Date: 2021-07-30

Variant appearance in text: LRRK2: R1628P
PubMed Link: 34360966
Variant Present in the following documents:
  • Main text
  • ijms-22-08196.pdf
View BVdb publication page



An Emerging Role for Phosphoinositides in the Pathophysiology of Parkinson's Disease.

Journal Of Parkinson'S Disease
Schechter, Meir M; Sharon, Ronit R
Publication Date: 2021

Variant appearance in text: LRRK2: R1628P
PubMed Link: 34151859
Variant Present in the following documents:
  • Main text
  • jpd-11-jpd212684.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: R1628P; rs33949390
PubMed Link: 34072005
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: 4883G>C; rs33949390
PubMed Link: 33922322
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sex effects on clinical features in LRRK2 G2385R carriers and non-carriers in Parkinson's disease.

Bmc Neuroscience
Cui, Shi-Shuang SS; Fu, Rao R; Du, Juan-Juan JJ; Lin, Yi-Qi YQ; Huang, Pei P; Gao, Chao C; Zhou, Hai-Yan HY; Chen, Sheng-Di SD
Publication Date: 2021-03-26

Variant appearance in text: LRRK2: R1628P
PubMed Link: 33771108
Variant Present in the following documents:
  • 12868_2021_Article_623.pdf
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: R1628P
PubMed Link: 33750819
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification & characterization of leucine-rich repeat kinase 2 & parkin RBR E3 ubiquitin protein ligase variants in patients with Parkinson's disease.

The Indian Journal Of Medical Research
Halder, Tamali T; Verma, Shiv Prakash SP; Raj, Janak J; Pandey, Sharad S; Singh, Ranjeet Kumar RK; Sharma, Vivek V; Joshi, Deepika D; Das, Parimal P
Publication Date: 2020-11

Variant appearance in text: LRRK2: R1628P
PubMed Link: 33707392
Variant Present in the following documents:
  • Main text
  • IJMR-152-498.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: Arg1628Pro
PubMed Link: 33613180
Variant Present in the following documents:
  • Main text
View BVdb publication page



Differences in MTHFR and LRRK2 variant's association with sporadic Parkinson's disease in Mexican Mestizos correlated to Native American ancestry.

Npj Parkinson'S Disease
Romero-Gutiérrez, Elizabeth E; Vázquez-Cárdenas, Paola P; Moreno-Macías, Hortensia H; Salas-Pacheco, José J; Tusié-Luna, Teresa T; Arias-Carrión, Oscar O
Publication Date: 2021-02-11

Variant appearance in text: rs33949390
PubMed Link: 33574311
Variant Present in the following documents:
  • Main text
  • 41531_2021_Article_157.pdf
View BVdb publication page



The Cell Biology of LRRK2 in Parkinson's Disease.

Molecular And Cellular Biology
Usmani, Ahsan A; Shavarebi, Farbod F; Hiniker, Annie A
Publication Date: 2021-04-22

Variant appearance in text: LRRK2: R1628P
PubMed Link: 33526455
Variant Present in the following documents:
  • Main text
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: R1628P; rs33949390
PubMed Link: 33494262
Variant Present in the following documents:
  • Main text
  • ijms-22-01045.pdf
View BVdb publication page