LRRK2 c.6055G>A ;(p.G2019S)

Variant ID: 12-40734202-G-A

NM_198578.3(LRRK2):c.6055G>A;(p.G2019S)

This variant was identified in 2147 publications

View GRCh38 version.




Publications:


Characterization of p38α autophosphorylation inhibitors that target the non-canonical activation pathway.

Nature Communications
González, Lorena L; Díaz, Lucía L; Pous, Joan J; Baginski, Blazej B; Duran-Corbera, Anna A; Scarpa, Margherita M; Brun-Heath, Isabelle I; Igea, Ana A; Martin-Malpartida, Pau P; Ruiz, Lidia L; Pallara, Chiara C; Esguerra, Mauricio M; Colizzi, Francesco F; Mayor-Ruiz, Cristina C; Biondi, Ricardo M RM; Soliva, Robert R; Macias, Maria J MJ; Orozco, Modesto M; Nebreda, Angel R AR
Publication Date: 2023-06-12

Variant appearance in text: LRRK2: G2019S
PubMed Link: 37308482
Variant Present in the following documents:
  • 41467_2023_39051_MOESM3_ESM.xlsx, sheet 5
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Disruption of axonal transport in neurodegeneration.

The Journal Of Clinical Investigation
Berth, Sarah H SH; Lloyd, Thomas E TE
Publication Date: 2023-06-01

Variant appearance in text: LRRK2: G2019S
PubMed Link: 37259916
Variant Present in the following documents:
  • jci-133-168554.pdf
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Cerebrospinal Fluid-Basic Concepts Review.

Biomedicines
Czarniak, Natalia N; Kamińska, Joanna J; Matowicka-Karna, Joanna J; Koper-Lenkiewicz, Olga Martyna OM
Publication Date: 2023-05-17

Variant appearance in text: LRRK2: G2019S
PubMed Link: 37239132
Variant Present in the following documents:
  • Main text
  • biomedicines-11-01461.pdf
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Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.

Biorxiv : The Preprint Server For Biology
Cronin, Shane J F SJF; Yu, Weonjin W; Hale, Ashley A; Licht-Mayer, Simon S; Crabtree, Mark J MJ; Korecka, Joanna A JA; Tretiakov, Evgenii O EO; Sealey-Cardona, Marco M; Somlyay, Mate M; Onji, Masahiro M; An, Meilin M; Fox, Jesse D JD; Turnes, Bruna Lenfers BL; Gomez-Diaz, Carlos C; da Luz Scheffer, Débora D; Cikes, Domagoj D; Nagy, Vanja V; Weidinger, Adelheid A; Wolf, Alexandra A; Reither, Harald H; Chabloz, Antoine A; Kavirayani, Anoop A; Rao, Shuan S; Andrews, Nick N; Latremoliere, Alban A; Costigan, Michael M; Douglas, Gillian G; Freitas, Fernando Cini FC; Pifl, Christian C; Walz, Roger R; Konrat, Robert R; Mahad, Don J DJ; Koslov, Andrey V AV; Latini, Alexandra A; Isacson, Ole O; Harkany, Tibor T; Hallett, Penelope J PJ; Bagby, Stefan S; Woolf, Clifford J CJ; Channon, Keith M KM; Je, Hyunsoo Shawn HS; Penninger, Josef M JM
Publication Date: 2023-05-08

Variant appearance in text: LRRK2: G2019S
PubMed Link: 37214873
Variant Present in the following documents:
  • Main text
  • nihpp-2023.05.08.539795v1.pdf
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α-Synuclein Seed Amplification Assays in the Diagnosis of Synucleinopathies Using Cerebrospinal Fluid-A Systematic Review and Meta-Analysis.

Movement Disorders Clinical Practice
Grossauer, Anna A; Hemicker, Greta G; Krismer, Florian F; Peball, Marina M; Djamshidian, Atbin A; Poewe, Werner W; Seppi, Klaus K; Heim, Beatrice B
Publication Date: 2023-05

Variant appearance in text: LRRK2: G2019S
PubMed Link: 37205253
Variant Present in the following documents:
  • Main text
  • MDC3-10-737.pdf
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Doubly Constrained C-terminal of Roc (COR) Domain-Derived Peptides Inhibit Leucine-Rich Repeat Kinase 2 (LRRK2) Dimerization.

Acs Chemical Neuroscience
Pathak, Pragya P; Alexander, Krista K KK; Helton, Leah G LG; Kentros, Michalis M; LeClair, Timothy J TJ; Zhang, Xiaojuan X; Ho, Franz Y FY; Moore, Timothy T TT; Hall, Scotty S; Guaitoli, Giambattista G; Gloeckner, Christian Johannes CJ; Kortholt, Arjan A; Rideout, Hardy H; Kennedy, Eileen J EJ
Publication Date: 2023-05-18

Variant appearance in text: LRRK2: G2019S
PubMed Link: 37200505
Variant Present in the following documents:
  • Main text
  • cn3c00259.pdf
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LRRK2 Structure-Based Activation Mechanism and Pathogenesis.

Biomolecules
Zhang, Xiaojuan X; Kortholt, Arjan A
Publication Date: 2023-03-28

Variant appearance in text: LRRK2: G2019S
PubMed Link: 37189360
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00612.pdf
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Neuropathology of incidental Lewy body & prodromal Parkinson's disease.

Molecular Neurodegeneration
Koeglsperger, Thomas T; Rumpf, Svenja-Lotta SL; Schließer, Patricia P; Struebing, Felix L FL; Brendel, Matthias M; Levin, Johannes J; Trenkwalder, Claudia C; Höglinger, Günter U GU; Herms, Jochen J
Publication Date: 2023-05-12

Variant appearance in text: LRRK2: G2019S
PubMed Link: 37173733
Variant Present in the following documents:
  • Main text
  • 13024_2023_Article_622.pdf
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The LRRK2 kinase substrates Rab8a and Rab10 contribute complementary but distinct disease-relevant phenotypes in human neurons.

Biorxiv : The Preprint Server For Biology
Mamais, Adamantios A; Sanyal, Anwesha A; Fajfer, Austin A; Zykoski, Catherine G CG; Guldin, Michael M; Riley-DiPaolo, Alexis A; Subrahmanian, Nitya N; Gibbs, Whitney W; Lin, Steven S; LaVoie, Matthew J MJ
Publication Date: 2023-04-30

Variant appearance in text: LRRK2: G2019S
PubMed Link: 37163109
Variant Present in the following documents:
  • nihpp-2023.04.30.538317v1.pdf
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Outlook of PINK1/Parkin signaling in molecular etiology of Parkinson's disease, with insights into Pink1 knockout models.

Zoological Research
Wang, Zhangting Z; Chan, See-Wing SW; Zhao, Hui H; Miu, Kai-Kei KK; Chan, Wai-Yee WY
Publication Date: 2023-05-18

Variant appearance in text: LRRK2: G2019S
PubMed Link: 37161651
Variant Present in the following documents:
  • Main text
  • zr-44-3-559.pdf
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Microtubule acetylation dyshomeostasis in Parkinson's disease.

Translational Neurodegeneration
Naren, Padmashri P; Samim, Khan Sabiya KS; Tryphena, Kamatham Pushpa KP; Vora, Lalitkumar K LK; Srivastava, Saurabh S; Singh, Shashi Bala SB; Khatri, Dharmendra Kumar DK
Publication Date: 2023-05-08

Variant appearance in text: LRRK2: G2019S
PubMed Link: 37150812
Variant Present in the following documents:
  • Main text
  • 40035_2023_Article_354.pdf
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Gastrointestinal disorders in Parkinson's disease and other Lewy body diseases.

Npj Parkinson'S Disease
Hirayama, Masaaki M; Nishiwaki, Hiroshi H; Hamaguchi, Tomonari T; Ohno, Kinji K
Publication Date: 2023-05-05

Variant appearance in text: LRRK2: G2019S
PubMed Link: 37147392
Variant Present in the following documents:
  • 41531_2023_Article_511.pdf
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A novel performance scoring quantification framework for stress test set-ups.

Plos One
Kozlovski, Tal T; Hausdorff, Jeffrey M JM; Davidov, Ori O; Giladi, Nir N; Mirelman, Anat A; Benjamini, Yoav Y
Publication Date: 2023

Variant appearance in text: LRRK2: G2019S
PubMed Link: 37104386
Variant Present in the following documents:
  • pone.0284083.pdf
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Identification of mitophagy-related biomarkers and immune infiltration in major depressive disorder.

Bmc Genomics
Zhang, Jing J; Xie, Shujun S; Xiao, Rong R; Yang, Dongrong D; Zhan, Zhi Z; Li, Yan Y
Publication Date: 2023-04-25

Variant appearance in text: LRRK2: G2019S
PubMed Link: 37098514
Variant Present in the following documents:
  • 12864_2023_Article_9304.pdf
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Analysis of rare Parkinson's disease variants in millions of people.

Research Square
Pitz, Vanessa V; Makarious, Mary M; Bandrés-Ciga, Sara S; Iwaki, Hirotaka H; Singleton, Andrew A; Nalls, Mike M; Heilbron, Karl K; Blauwendraat, Cornelis C
Publication Date: 2023-04-10

Variant appearance in text: LRRK2: G2019S; rs34637584
PubMed Link: 37090536
Variant Present in the following documents:
  • nihpp-rs2743857v1.pdf
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Brainstem neuromelanin and iron MRI reveals a precise signature for idiopathic and LRRK2 Parkinson's disease.

Npj Parkinson'S Disease
Martínez, Martín M; Ariz, Mikel M; Alvarez, Ignacio I; Castellanos, Gabriel G; Aguilar, Miquel M; Hernández-Vara, Jorge J; Caballol, Núria N; Garrido, Alicia A; Bayés, Àngels À; Vilas, Dolores D; Marti, Maria Jose MJ; , ; Pastor, Pau P; de Solórzano, Carlos Ortiz CO; Pastor, Maria A MA
Publication Date: 2023-04-15

Variant appearance in text: LRRK2: G2019S
PubMed Link: 37061532
Variant Present in the following documents:
  • Main text
  • 41531_2023_Article_503.pdf
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Gender differences in microRNA expression in levodopa-naive PD patients.

Journal Of Neurology
Vallelunga, A A; Iannitti, T T; Somma, G G; Russillo, M C MC; Picillo, M M; De Micco, R R; Vacca, L L; Cilia, R R; Cicero, C E CE; Zangaglia, R R; Lazzeri, G G; Galantucci, S S; Radicati, F G FG; De Rosa, A A; Amboni, M M; Scaglione, C C; Tessitore, A A; Stocchi, F F; Eleopra, R R; Nicoletti, A A; Pacchetti, C C; Di Fonzo, A A; Volontè, M A MA; Barone, P P; Pellecchia, M T MT
Publication Date: 2023-04-13

Variant appearance in text: LRRK2: G2019S
PubMed Link: 37052669
Variant Present in the following documents:
  • Main text
  • 415_2023_Article_11707.pdf
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DNA Damage-Mediated Neurotoxicity in Parkinson's Disease.

International Journal Of Molecular Sciences
Wang, Zhong-Xuan ZX; Li, Yao-Lin YL; Pu, Jia-Li JL; Zhang, Bao-Rong BR
Publication Date: 2023-03-28

Variant appearance in text: LRRK2: G2019S
PubMed Link: 37047285
Variant Present in the following documents:
  • Main text
  • ijms-24-06313.pdf
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Capturing Differences in the Regulation of LRRK2 Dynamics and Conformational States by Small Molecule Kinase Inhibitors.

Acs Chemical Biology
Weng, Jui-Hung JH; Ma, Wen W; Wu, Jian J; Sharma, Pallavi Kaila PK; Silletti, Steve S; McCammon, J Andrew JA; Taylor, Susan S
Publication Date: 2023-04-12

Variant appearance in text: LRRK2: G2019S
PubMed Link: 37043829
Variant Present in the following documents:
  • cb2c00868.pdf
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Pathological mechanisms of neuroimmune response and multitarget disease-modifying therapies of mesenchymal stem cells in Parkinson's disease.

Stem Cell Research & Therapy
Zhuo, Yi Y; Li, Xuan X; He, Zhengwen Z; Lu, Ming M
Publication Date: 2023-04-12

Variant appearance in text: LRRK2: G2019S
PubMed Link: 37041580
Variant Present in the following documents:
  • 13287_2023_Article_3280.pdf
View BVdb publication page



Discovery of an In Vivo Chemical Probe for BCL6 Inhibition by Optimization of Tricyclic Quinolinones.

Journal Of Medicinal Chemistry
Harnden, Alice C AC; Davis, Owen A OA; Box, Gary M GM; Hayes, Angela A; Johnson, Louise D LD; Henley, Alan T AT; de Haven Brandon, Alexis K AK; Valenti, Melanie M; Cheung, Kwai-Ming J KJ; Brennan, Alfie A; Huckvale, Rosemary R; Pierrat, Olivier A OA; Talbot, Rachel R; Bright, Michael D MD; Akpinar, Hafize Aysin HA; Miller, Daniel S J DSJ; Tarantino, Dalia D; Gowan, Sharon S; de Klerk, Selby S; McAndrew, Peter Craig PC; Le Bihan, Yann-Vaï YV; Meniconi, Mirco M; Burke, Rosemary R; Kirkin, Vladimir V; van Montfort, Rob L M RLM; Raynaud, Florence I FI; Rossanese, Olivia W OW; Bellenie, Benjamin R BR; Hoelder, Swen S
Publication Date: 2023-04-07

Variant appearance in text: LRRK2: G2019S
PubMed Link: 37026591
Variant Present in the following documents:
  • jm3c00155_si_002.xlsx, sheet 2
View BVdb publication page



Association of polygenic risk score with response to deep brain stimulation in Parkinson's disease.

Bmc Neurology
Yoon, Esther E; Ahmed, Sarah S; Li, Ryan R; Bandres-Ciga, Sara S; Blauwendraat, Cornelis C; Dustin, Irene I; Scholz, Sonja S; Hallett, Mark M; Ehrlich, Debra D
Publication Date: 2023-04-04

Variant appearance in text: LRRK2: G2019S; rs34637584
PubMed Link: 37016359
Variant Present in the following documents:
  • Main text
  • 12883_2023_Article_3188.pdf
View BVdb publication page



Alpha Synuclein: Neurodegeneration and Inflammation.

International Journal Of Molecular Sciences
Forloni, Gianluigi G
Publication Date: 2023-03-21

Variant appearance in text: LRRK2: G2019S
PubMed Link: 36982988
Variant Present in the following documents:
  • ijms-24-05914.pdf
View BVdb publication page



Susceptibility of Ovine Bone Marrow-Derived Mesenchymal Stem Cell Spheroids to Scrapie Prion Infection.

Animals : An Open Access Journal From Mdpi
Hernaiz, Adelaida A; Cobeta, Paula P; Marín, Belén B; Vázquez, Francisco José FJ; Badiola, Juan José JJ; Zaragoza, Pilar P; Bolea, Rosa R; Martín-Burriel, Inmaculada I
Publication Date: 2023-03-13

Variant appearance in text: LRRK2: G2019S
PubMed Link: 36978584
Variant Present in the following documents:
  • Main text
  • animals-13-01043.pdf
View BVdb publication page



Characteristics of fatigue in Parkinson's disease: A longitudinal cohort study.

Frontiers In Aging Neuroscience
Zhou, Xiaoxia X; Xiang, Yaqin Y; Song, Tingwei T; Zhao, Yuwen Y; Pan, Hongxu H; Xu, Qian Q; Chen, Yase Y; Sun, Qiying Q; Wu, Xinyin X; Yan, Xinxiang X; Guo, Jifeng J; Tang, Beisha B; Lei, Lifang L; Liu, Zhenhua Z; ,
Publication Date: 2023

Variant appearance in text: LRRK2: G2019S
PubMed Link: 36967819
Variant Present in the following documents:
  • fnagi-15-1133705.pdf
View BVdb publication page



The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism.

Cell Genomics
Bressan, Elisangela E; Reed, Xylena X; Bansal, Vikas V; Hutchins, Elizabeth E; Cobb, Melanie M MM; Webb, Michelle G MG; Alsop, Eric E; Grenn, Francis P FP; Illarionova, Anastasia A; Savytska, Natalia N; Violich, Ivo I; Broeer, Stefanie S; Fernandes, Noémia N; Sivakumar, Ramiyapriya R; Beilina, Alexandra A; Billingsley, Kimberley J KJ; Berghausen, Joos J; Pantazis, Caroline B CB; Pitz, Vanessa V; Patel, Dhairya D; Daida, Kensuke K; Meechoovet, Bessie B; Reiman, Rebecca R; Courtright-Lim, Amanda A; Logemann, Amber A; Antone, Jerry J; Barch, Mariya M; Kitchen, Robert R; Li, Yan Y; Dalgard, Clifton L CL; , ; Rizzu, Patrizia P; Hernandez, Dena G DG; Hjelm, Brooke E BE; Nalls, Mike M; Gibbs, J Raphael JR; Finkbeiner, Steven S; Cookson, Mark R MR; Van Keuren-Jensen, Kendall K; Craig, David W DW; Singleton, Andrew B AB; Heutink, Peter P; Blauwendraat, Cornelis C
Publication Date: 2023-03-08

Variant appearance in text: LRRK2: G2019S
PubMed Link: 36950378
Variant Present in the following documents:
  • Main text
  • mmc10.pdf
  • main.pdf
View BVdb publication page



Deep Annotation of Donated Chemical Probes (DCP) in Organotypic Human Liver Cultures and Patient-Derived Organoids from Tumor and Normal Colorectum.

Acs Chemical Biology
Tredup, Claudia C; Ndreshkjana, Benardina B; Schneider, Natalie S NS; Tjaden, Amelie A; Kemas, Aurino M AM; Youhanna, Sonia S; Lauschke, Volker M VM; Berger, Benedict-Tilman BT; Krämer, Andreas A; Berger, Lena M LM; Röhm, Sandra S; Knapp, Stefan S; Farin, Henner F HF; Müller, Susanne S
Publication Date: 2023-03-21

Variant appearance in text: LRRK2: G2019S
PubMed Link: 36944371
Variant Present in the following documents:
  • cb2c00877_si_004.xlsx, sheet 1
View BVdb publication page



Trichloroethylene: An Invisible Cause of Parkinson's Disease?

Journal Of Parkinson'S Disease
Dorsey, E Ray ER; Zafar, Maryam M; Lettenberger, Samantha E SE; Pawlik, Meghan E ME; Kinel, Dan D; Frissen, Myrthe M; Schneider, Ruth B RB; Kieburtz, Karl K; Tanner, Caroline M CM; De Miranda, Briana R BR; Goldman, Samuel M SM; Bloem, Bastiaan R BR
Publication Date: 2023

Variant appearance in text: LRRK2: G2019S
PubMed Link: 36938742
Variant Present in the following documents:
  • Main text
  • jpd-13-jpd225047.pdf
View BVdb publication page



Insights into the cellular consequences of LRRK2-mediated Rab protein phosphorylation.

Biochemical Society Transactions
Fasiczka, Rachel R; Naaldijk, Yahaira Y; Brahmia, Besma B; Hilfiker, Sabine S
Publication Date: 2023-03-17

Variant appearance in text: LRRK2: G2019S
PubMed Link: 36929701
Variant Present in the following documents:
  • Main text
  • BST-51-587.pdf
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Visualised genotyping assay with oral swabs in a closed tube by nested invasive reaction assisted with gold nanoparticle probes.

Iet Nanobiotechnology
Li, Yijun Y; Wei, Wei W; Ma, Yi Y; Shan, Jingwen J; Chu, Yanan Y; Zhang, LiKun L; Liu, Danni D; Ma, Xueping X; Zhou, Guohua G; Wu, Haiping H
Publication Date: 2023-03-10

Variant appearance in text: LRRK2: Gly2019Ser
PubMed Link: 36905169
Variant Present in the following documents:
  • NBT2-17-281.pdf
View BVdb publication page



Changes in Liver Lipidomic Profile in G2019S-LRRK2 Mouse Model of Parkinson's Disease.

Cells
Corral Nieto, Yaiza Y; Yakhine-Diop, Sokhna M S SMS; Moreno-Cruz, Paula P; Manrique García, Laura L; Gabrielly Pereira, Amanda A; Morales-García, José A JA; Niso-Santano, Mireia M; González-Polo, Rosa A RA; Uribe-Carretero, Elisabet E; Durand, Sylvère S; Maiuri, Maria Chiara MC; Paredes-Barquero, Marta M; Alegre-Cortés, Eva E; Canales-Cortés, Saray S; López de Munain, Adolfo A; Pérez-Tur, Jordi J; Pérez-Castillo, Ana A; Kroemer, Guido G; Fuentes, José M JM; Bravo-San Pedro, José M JM
Publication Date: 2023-03-04

Variant appearance in text: LRRK2: G2019S
PubMed Link: 36899942
Variant Present in the following documents:
  • Main text
  • cells-12-00806.pdf
View BVdb publication page



Investigation of the anti-tumor mechanism of tirabrutinib, a highly selective Bruton's tyrosine kinase inhibitor, by phosphoproteomics and transcriptomics.

Plos One
Kozaki, Ryohei R; Yasuhiro, Tomoko T; Kato, Hikaru H; Murai, Jun J; Hotta, Shingo S; Ariza, Yuko Y; Sakai, Shunsuke S; Fujikawa, Ryu R; Yoshida, Takao T
Publication Date: 2023

Variant appearance in text: LRRK2: G2019S
PubMed Link: 36897912
Variant Present in the following documents:
  • pone.0282166.s009.xlsx, sheet 1
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: Gly2019Ser
PubMed Link: 36896008
Variant Present in the following documents:
  • Main text
  • fnmol-16-1097633.pdf
View BVdb publication page



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: G2019S
PubMed Link: 36881256
Variant Present in the following documents:
  • Main text
  • 11910_2023_Article_1259.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: Gly2019Ser
PubMed Link: 36879366
Variant Present in the following documents:
  • Main text
  • BRB3-13-e2950.pdf
View BVdb publication page



Whole-genome sequencing reveals an association between small genomic deletions and an increased risk of developing Parkinson's disease.

Experimental & Molecular Medicine
Oh, Ji-Hye JH; Jo, Sungyang S; Park, Kye Won KW; Lee, Eun-Jae EJ; Lee, Seung Hyun SH; Hwang, Yun Su YS; Jeon, Ha Ra HR; Ryu, Yeonjin Y; Yoon, Hee Jeong HJ; Chun, Sung-Min SM; Kim, Chong Jai CJ; Kim, Tae Won TW; Sung, Chang Ohk CO; Chae, Sehyun S; Chung, Sun Ju SJ
Publication Date: 2023-03-03

Variant appearance in text: LRRK2: G2019S
PubMed Link: 36869069
Variant Present in the following documents:
  • 12276_2023_Article_952.pdf
View BVdb publication page



Proteostasis and Ribostasis Impairment as Common Cell Death Mechanisms in Neurodegenerative Diseases.

Journal Of Clinical Neurology (Seoul, Korea)
Lim, Su Min SM; Nahm, Minyeop M; Kim, Seung Hyun SH
Publication Date: 2023-03

Variant appearance in text: LRRK2: G2019S
PubMed Link: 36854331
Variant Present in the following documents:
  • jcn-19-101.pdf
View BVdb publication page