LRRK2 c.7153G>A ;(p.G2385R)

Variant ID: 12-40757328-G-A

NM_198578.3(LRRK2):c.7153G>A;(p.G2385R)

This variant was identified in 310 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: G2385R
PubMed Link: 37189360
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00612.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: G2385R
PubMed Link: 37021623
Variant Present in the following documents:
  • Main text
  • ACN3-10-850.pdf
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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: G2385R
PubMed Link: 36982356
Variant Present in the following documents:
  • Main text
  • ijms-24-05281.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: G2385R
PubMed Link: 36899899
Variant Present in the following documents:
  • Main text
  • cells-12-00764.pdf
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Who is at Risk of Parkinson Disease? Refining the Preclinical Phase of GBA1 and LRRK2 Variant Carriers: a Clinical, Biochemical, and Imaging Approach.

Current Neurology And Neuroscience Reports
Menozzi, Elisa E; Schapira, Anthony H V AHV; Blandini, Fabio F; Avenali, Micol M
Publication Date: 2023-03-07

Variant appearance in text: LRRK2: G2385R
PubMed Link: 36881256
Variant Present in the following documents:
  • Main text
  • 11910_2023_Article_1259.pdf
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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: Gly2385Arg
PubMed Link: 36879366
Variant Present in the following documents:
  • Main text
  • BRB3-13-e2950.pdf
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Is Glial Dysfunction the Key Pathogenesis of LRRK2-Linked Parkinson's Disease?

Biomolecules
Iseki, Tatou T; Imai, Yuzuru Y; Hattori, Nobutaka N
Publication Date: 2023-01-15

Variant appearance in text: LRRK2: G2385R
PubMed Link: 36671564
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00178.pdf
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Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research
Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z
Publication Date: 2023-01-06

Variant appearance in text: LRRK2: G2385R; rs34778348
PubMed Link: 36607615
Variant Present in the following documents:
  • can-22-2224_table_s8_suppst8.xlsx, sheet 14
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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: G2385R
PubMed Link: 36589546
Variant Present in the following documents:
  • Main text
  • 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: G2385R
PubMed Link: 36360174
Variant Present in the following documents:
  • Main text
  • genes-13-01937.pdf
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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: G2385R
PubMed Link: 36261290
Variant Present in the following documents:
  • jnnp-2022-330010.pdf
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The Emerging Roles of E3 Ligases and DUBs in Neurodegenerative Diseases.

Molecular Neurobiology
Liu, Na N; Lin, Miao-Miao MM; Wang, Yan Y
Publication Date: 2022-10-19

Variant appearance in text: LRRK2: G2385R
PubMed Link: 36260224
Variant Present in the following documents:
  • Main text
  • 12035_2022_Article_3063.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: G2385R
PubMed Link: 36257956
Variant Present in the following documents:
  • Main text
  • 41531_2022_Article_402.pdf
View BVdb publication page



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: G2385R
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
  • Table_3.xlsx, sheet 1
View BVdb publication page



The Role of Rab Proteins in Parkinson's Disease Synaptopathy.

Biomedicines
Bellucci, Arianna A; Longhena, Francesca F; Spillantini, Maria Grazia MG
Publication Date: 2022-08-10

Variant appearance in text: LRRK2: G2385R
PubMed Link: 36009486
Variant Present in the following documents:
  • Main text
  • biomedicines-10-01941.pdf
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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: G2385R
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: Gly2385Arg
PubMed Link: 35913124
Variant Present in the following documents:
  • Main text
  • ANA-92-715.pdf
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: LRRK2: 7153G>A; Gly2385Arg; rs34778348
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
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: G2385R
PubMed Link: 35821405
Variant Present in the following documents:
  • Main text
  • 10038_2022_Article_1058.pdf
View BVdb publication page



The emerging role of LRRK2 in tauopathies.

Clinical Science (London, England : 1979)
Herbst, Susanne S; Lewis, Patrick A PA; Morris, Huw R HR
Publication Date: 2022-07-15

Variant appearance in text: LRRK2: G2385R
PubMed Link: 35815712
Variant Present in the following documents:
  • Main text
  • cs-136-cs20220067.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: G2385R
PubMed Link: 35743250
Variant Present in the following documents:
  • Main text
  • ijms-23-06808.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: G2385R
PubMed Link: 35395825
Variant Present in the following documents:
  • Main text
  • 40035_2022_Article_294.pdf
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Nanobodies as allosteric modulators of Parkinson's disease-associated LRRK2.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Singh, Ranjan K RK; Soliman, Ahmed A; Guaitoli, Giambattista G; Störmer, Eliza E; von Zweydorf, Felix F; Dal Maso, Thomas T; Oun, Asmaa A; Van Rillaer, Laura L; Schmidt, Sven H SH; Chatterjee, Deep D; David, Joshua A JA; Pardon, Els E; Schwartz, Thomas U TU; Knapp, Stefan S; Kennedy, Eileen J EJ; Steyaert, Jan J; Herberg, Friedrich W FW; Kortholt, Arjan A; Gloeckner, Christian Johannes CJ; Versées, Wim W
Publication Date: 2022-03-01

Variant appearance in text: LRRK2: G2385R
PubMed Link: 35217606
Variant Present in the following documents:
  • pnas.2112712119.sapp.pdf
  • pnas.202112712.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: G2385R
PubMed Link: 35152914
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: G2385R
PubMed Link: 35126095
Variant Present in the following documents:
  • Main text
  • fnagi-13-819373.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: G2385R
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: G2385R
PubMed Link: 35054514
Variant Present in the following documents:
  • Main text
  • life-12-00121.pdf
View BVdb publication page



New Promising Therapeutic Avenues of Curcumin in Brain Diseases.

Molecules (Basel, Switzerland)
Benameur, Tarek T; Giacomucci, Giulia G; Panaro, Maria Antonietta MA; Ruggiero, Melania M; Trotta, Teresa T; Monda, Vincenzo V; Pizzolorusso, Ilaria I; Lofrumento, Dario Domenico DD; Porro, Chiara C; Messina, Giovanni G
Publication Date: 2021-12-31

Variant appearance in text: LRRK2: G2385R
PubMed Link: 35011468
Variant Present in the following documents:
  • Main text
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: G2385R
PubMed Link: 35003622
Variant Present in the following documents:
  • Main text
  • PD2021-8610285.pdf
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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: G2385R; rs34778348
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: G2385R; rs34778348
PubMed Link: 34879060
Variant Present in the following documents:
  • pntd.0010029.s004.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: N/A
PubMed Link: 34799977
Variant Present in the following documents:
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: N/A
PubMed Link: 34799977
Variant Present in the following documents:
View BVdb publication page



Curcumin Reduced H2O2- and G2385R-LRRK2-Induced Neurodegeneration.

Frontiers In Aging Neuroscience
Zhang, Jinru J; Li, Kai K; Wang, Xiaobo X; Smith, Amber M AM; Ning, Bo B; Liu, Zhaohui Z; Liu, Chunfeng C; Ross, Christopher A CA; Smith, Wanli W WW
Publication Date: 2021

Variant appearance in text: LRRK2: G2385R
PubMed Link: 34720999
Variant Present in the following documents:
  • Main text
  • fnagi-13-754956.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: G2385R
PubMed Link: 34630269
Variant Present in the following documents:
  • Main text
View BVdb publication page