Variant ID: 12-40734202-G-A

NM_198578.3(LRRK2):c.6055G>A;(p.Gly2019Ser)

This variant was identified in 1460 publications




Publications:


Splice-Switching Antisense Oligonucleotides Reduce LRRK2 Kinase Activity in Human LRRK2 Transgenic Mice.

Molecular Therapy. Nucleic Acids
JA Korecka, R Thomas, AJ Hinrich, AM Moskites, ZK Macbain, PJ Hallett, O Isacson, ML Hastings
Publication Date: 2020-06-27

Variant appearance in text: LRRK2: G2019S
PMID: 32736291
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LRRK2 and Protein Aggregation in Parkinson's Disease: Insights From Animal Models.

Frontiers In Neuroscience
DJ Dues, DJ Moore
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32733200
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Translation Regulation by eIF2α Phosphorylation and mTORC1 Signaling Pathways in Non-Communicable Diseases (NCDs).

International Journal Of Molecular Sciences
TJ Rios-Fuller, M Mahe, B Walters, D Abbadi, S Pérez-Baos, A Gadi, JJ Andrews, O Katsara, CT Vincent, RJ Schneider
Publication Date: 2020-07-26

Variant appearance in text: LRRK2: G2019S
PMID: 32722591
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Comprehensive Genomic Analysis Reveals the Prognostic Role of LRRK2 Copy-Number Variations in Human Malignancies.

Genes
G Lopez, G Lazzeri, A Rappa, G Isimbaldi, FM Cribiù, E Guerini-Rocco, S Ferrero, V Vaira, A Di Fonzo
Publication Date: 2020-07-24

Variant appearance in text: LRRK2: G2019S
PMID: 32722212
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The class II histone deacetylases as therapeutic targets for Parkinson's disease.

Neuronal Signaling
M Mazzocchi, LM Collins, AM Sullivan, GW O'Keeffe
Publication Date: 2020-06

Variant appearance in text: LRRK2: G2019S
PMID: 32714601
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Mitochondrial quality control and neurodegenerative diseases.

Neuronal Signaling
F Gao, J Zhang
Publication Date: 2018-12

Variant appearance in text: LRRK2: G2019S
PMID: 32714594
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Physiological and pathological functions of LRRK2: implications from substrate proteins.

Neuronal Signaling
M Araki, G Ito, T Tomita
Publication Date: 2018-12

Variant appearance in text: LRRK2: G2019S
PMID: 32714591
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Oxidative Stress and Neuroinflammation Potentiate Each Other to Promote Progression of Dopamine Neurodegeneration.

Oxidative Medicine And Cellular Longevity
J He, G Zhu, G Wang, F Zhang
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32714488
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Association Between Glucocerebrosidase Mutations and Parkinson's Disease in Ireland.

Frontiers In Neurology
DA Olszewska, A McCarthy, AI Soto-Beasley, RL Walton, B Magennis, RL McLaughlin, O Hardiman, OA Ross, T Lynch
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32714263
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Distinct Roles for RAB10 and RAB29 in Pathogenic LRRK2-Mediated Endolysosomal Trafficking Alterations.

Cells
P Rivero-Ríos, M Romo-Lozano, B Fernández, E Fdez, S Hilfiker
Publication Date: 2020-07-17

Variant appearance in text: LRRK2: G2019S
PMID: 32709066
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Classification of α-synuclein-induced changes in the AAV α-synuclein rat model of Parkinson's disease using electrophysiological measurements of visual processing.

Scientific Reports
FG Østergaard, MM Himmelberg, B Laursen, HR Siebner, AR Wade, KV Christensen
Publication Date: 2020-07-17

Variant appearance in text: LRRK2: G2019S
PMID: 32681050
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Contactin-1 Is Required for Peripheral Innervation and Immune Homeostasis Within the Intestinal Mucosa.

Frontiers In Immunology
M Veny, D Grases, K Kucharova, WW Lin, J Nguyen, S Huang, CF Ware, B Ranscht, JR Šedý
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32676079
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Abnormal Mitochondrial Quality Control in Neurodegenerative Diseases.

Frontiers In Cellular Neuroscience
X Yan, B Wang, Y Hu, S Wang, X Zhang
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32655368
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The Role of Oxidative Stress in Parkinson's Disease.

Antioxidants (Basel, Switzerland)
KH Chang, CM Chen
Publication Date: 2020-07-08

Variant appearance in text: LRRK2: G2019S
PMID: 32650609
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Studying the Pathophysiology of Parkinson's Disease Using Zebrafish.

Biomedicines
LM Barnhill, H Murata, JM Bronstein
Publication Date: 2020-07-07

Variant appearance in text: LRRK2: G2019S
PMID: 32645821
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LRRK2 mediates axon development by regulating Frizzled3 phosphorylation and growth cone-growth cone communication.

Proceedings Of The National Academy Of Sciences Of The United States Of America
K Onishi, R Tian, B Feng, Y Liu, J Wang, Y Li, Y Zou
Publication Date: 2020-07-08

Variant appearance in text: LRRK2: G2019S
PMID: 32641508
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Parkinson's Disease Research on the African Continent: Obstacles and Opportunities.

Frontiers In Neurology
MCJ Dekker, T Coulibaly, S Bardien, OA Ross, J Carr, M Komolafe
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32636796
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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
APT Nguyen, E Tsika, K Kelly, N Levine, X Chen, AB West, S Boularand, P Barneoud, DJ Moore
Publication Date: 2020-07-06

Variant appearance in text: LRRK2: G2019S
PMID: 32631998
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Epigenetics in Lewy Body Diseases: Impact on Gene Expression, Utility as a Biomarker, and Possibilities for Therapy.

International Journal Of Molecular Sciences
A Urbizu, K Beyer
Publication Date: 2020-07-02

Variant appearance in text: LRRK2: G2019S
PMID: 32630630
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Dietary Antioxidants and Parkinson's Disease.

Antioxidants (Basel, Switzerland)
HA Park, AC Ellis
Publication Date: 2020-07-01

Variant appearance in text: LRRK2: G2019S
PMID: 32630250
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Negative Symptoms of Schizophrenia and Dopaminergic Transmission: Translational Models and Perspectives Opened by iPSC Techniques.

Frontiers In Neuroscience
G Collo, A Mucci, GM Giordano, E Merlo Pich, S Galderisi
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32625059
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LRRK2 and α-Synuclein: Distinct or Synergistic Players in Parkinson's Disease?

Frontiers In Neuroscience
DM O'Hara, G Pawar, SK Kalia, LV Kalia
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32625052
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LRRK2 Phosphorylation, More Than an Epiphenomenon.

Frontiers In Neuroscience
A Marchand, M Drouyer, A Sarchione, MC Chartier-Harlin, JM Taymans
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32612495
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Molecular mechanism of Fast Endophilin-Mediated Endocytosis.

The Biochemical Journal
A Casamento, E Boucrot
Publication Date: 2020-06-26

Variant appearance in text: LRRK2: Gly2019Ser
PMID: 32589750
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MAP/ERK Signaling in Developing Cognitive and Emotional Function and Its Effect on Pathological and Neurodegenerative Processes.

International Journal Of Molecular Sciences
H Albert-Gascó, F Ros-Bernal, E Castillo-Gómez, FE Olucha-Bordonau
Publication Date: 2020-06-23

Variant appearance in text: LRRK2: G2019S
PMID: 32586047
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Circulating Inflammatory miRNAs Associated with Parkinson's Disease Pathophysiology.

Biomolecules
SR Oliveira, PA Dionísio, L Correia Guedes, N Gonçalves, M Coelho, MM Rosa, JD Amaral, JJ Ferreira, CMP Rodrigues
Publication Date: 2020-06-23

Variant appearance in text: LRRK2: G2019S
PMID: 32585840
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Translation Imaging in Parkinson's Disease: Focus on Neuroinflammation.

Frontiers In Aging Neuroscience
S Belloli, M Morari, V Murtaj, S Valtorta, RM Moresco, MC Gilardi
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32581765
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LRRK2-Related Parkinson's Disease Due to Altered Endolysosomal Biology With Variable Lewy Body Pathology: A Hypothesis.

Frontiers In Neuroscience
P Rivero-Ríos, M Romo-Lozano, R Fasiczka, Y Naaldijk, S Hilfiker
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32581693
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The Future of Targeted Gene-Based Treatment Strategies and Biomarkers in Parkinson's Disease.

Biomolecules
A Polissidis, L Petropoulou-Vathi, M Nakos-Bimpos, HJ Rideout
Publication Date: 2020-06-16

Variant appearance in text: LRRK2: G2019S
PMID: 32560161
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Kinase inhibition of G2019S-LRRK2 enhances autolysosome formation and function to reduce endogenous alpha-synuclein intracellular inclusions.

Cell Death Discovery
J Obergasteiger, G Frapporti, G Lamonaca, S Pizzi, A Picard, AA Lavdas, F Pischedda, G Piccoli, S Hilfiker, E Lobbestael, V Baekelandt, AA Hicks, C Corti, PP Pramstaller, M Volta
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32550012
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Toxicity of Necrostatin-1 in Parkinson's Disease Models.

Antioxidants (Basel, Switzerland)
E Alegre-Cortés, A Muriel-González, S Canales-Cortés, E Uribe-Carretero, G Martínez-Chacón, A Aiastui, A López de Munain, M Niso-Santano, RA Gonzalez-Polo, JM Fuentes, SMS Yakhine-Diop
Publication Date: 2020-06-15

Variant appearance in text: LRRK2: G2019S
PMID: 32549347
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Innovative Approaches for Slowing Disease Progression in Parkinson's Disease: Takeaways from the 14th Annual International Society for Central Nervous System Clinical Trials and Methodology Scientific Meeting.

Innovations In Clinical Neuroscience
M Javidnia, M Frasier, I Shoulson, I Turkoz, K Budur
Publication Date: 2020-01-01

Variant appearance in text: LRRK2: G2019S
PMID: 32547841
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Recent Developments in Microfluidic Technologies for Central Nervous System Targeted Studies.

Pharmaceutics
MI Teixeira, MH Amaral, PC Costa, CM Lopes, DA Lamprou
Publication Date: 2020-06-11

Variant appearance in text: LRRK2: G2019S
PMID: 32545276
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In vitro Models of Neurodegenerative Diseases.

Frontiers In Cell And Developmental Biology
A Slanzi, G Iannoto, B Rossi, E Zenaro, G Constantin
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32528949
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Quantitative Measurements of LRRK2 in Human Cerebrospinal Fluid Demonstrates Increased Levels in G2019S Patients.

Frontiers In Neuroscience
OS Mabrouk, S Chen, AL Edwards, M Yang, WD Hirst, DL Graham
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32523511
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"LRRK2: Autophagy and Lysosomal Activity".

Frontiers In Neuroscience
M Madureira, N Connor-Robson, R Wade-Martins
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32523507
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Metabolic syndrome does not influence the phenotype of LRRK2 and GBA related Parkinson's disease.

Scientific Reports
A Thaler, S Shenhar-Tsarfaty, Y Shaked, T Gurevich, N Omer, A Bar-Shira, M Gana-Weisz, O Goldstein, M Kestenbaum, JM Cedarbaum, A Orr-Urtreger, N Giladi, A Mirelman
Publication Date: 2020-06-09

Variant appearance in text: LRRK2: G2019S
PMID: 32518334
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Neuron-autonomous susceptibility to induced synuclein aggregation is exacerbated by endogenous Lrrk2 mutations and ameliorated by Lrrk2 genetic knock-out.

Brain Communications
S MacIsaac, T Quevedo Melo, Y Zhang, M Volta, MJ Farrer, AJ Milnerwood
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32510053
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Midbrain Organoids: A New Tool to Investigate Parkinson's Disease.

Frontiers In Cell And Developmental Biology
LM Smits, JC Schwamborn
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32509785
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Guilt-by-Association - Functional Insights Gained From Studying the LRRK2 Interactome.

Frontiers In Neuroscience
CJ Gloeckner, P Porras
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32508578
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LRRK2 at the Interface Between Peripheral and Central Immune Function in Parkinson's.

Frontiers In Neuroscience
RL Wallings, MK Herrick, MG Tansey
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32508566
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LRRK2 Kinase Inhibition Rescues Deficits in Lysosome Function Due to Heterozygous GBA1 Expression in Human iPSC-Derived Neurons.

Frontiers In Neuroscience
A Sanyal, HS Novis, E Gasser, S Lin, MJ LaVoie
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32499675
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Long-Term Outcomes of Genetic Parkinson's Disease.

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

Variant appearance in text: LRRK2: G2019S
PMID: 32498494
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Fluctuation Imaging of LRRK2 Reveals that the G2019S Mutation Alters Spatial and Membrane Dynamics.

Molecules (Basel, Switzerland)
BJ Sanstrum, BMSS Goo, DZY Holden, DD Delgado, TPN Nguyen, KD Lee, NG James
Publication Date: 2020-05-31

Variant appearance in text: LRRK2: G2019S
PMID: 32486414
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Sleep Spindles and Fragmented Sleep as Prodromal Markers in a Preclinical Model of LRRK2-G2019S Parkinson's Disease.

Frontiers In Neurology
LM Crown, MJ Bartlett, JL Wiegand, AJ Eby, EJ Monroe, K Gies, L Wohlford, MJ Fell, T Falk, SL Cowen
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32477237
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The effect of LRRK2 loss-of-function variants in humans.

Nature Medicine
N Whiffin, IM Armean, A Kleinman, JL Marshall, EV Minikel, JK Goodrich, NM Quaife, JB Cole, Q Wang, KJ Karczewski, BB Cummings, L Francioli, K Laricchia, A Guan, B Alipanahi, P Morrison, MAS Baptista, KM Merchant, , , JS Ware, AS Havulinna, B Iliadou, JJ Lee, GN Nadkarni, C Whiteman, , M Daly, T Esko, C Hultman, RJF Loos, L Milani, A Palotie, C Pato, M Pato, D Saleheen, PF Sullivan, J Alföldi, P Cannon, DG MacArthur
Publication Date: 2020-05-27

Variant appearance in text: LRRK2: G2019S
PMID: 32461697
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A brief history of organoids.

American Journal Of Physiology. Cell Physiology
C Corrò, L Novellasdemunt, VSW Li
Publication Date: 2020-05-27

Variant appearance in text: LRRK2: G2019S
PMID: 32459504
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Clinical and Imaging Markers of Prodromal Parkinson's Disease.

Frontiers In Neurology
E Hustad, JO Aasly
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32457695
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Sequential screening nominates the Parkinson's disease associated kinase LRRK2 as a regulator of Clathrin-mediated endocytosis.

Neurobiology Of Disease
GR Heaton, N Landeck, A Mamais, MA Nalls, J Nixon-Abell, R Kumaran, A Beilina, L Pelligrini, Y Li, , K Harvey, MR Cookson
Publication Date: 2020-05-17

Variant appearance in text: LRRK2: G2019S
PMID: 32434048
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Iroquois Homeobox Protein 2 Identified as a Potential Biomarker for Parkinson's Disease.

International Journal Of Molecular Sciences
H Sim, JE Lee, HM Yoo, S Cho, H Lee, A Baek, J Kim, H Seo, MN Kweon, HG Kim, YJ Jeon, MY Son, J Kim
Publication Date: 2020-05-14

Variant appearance in text: LRRK2: Gly2019Ser
PMID: 32422864
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Multiple-Hit Hypothesis in Parkinson's Disease: LRRK2 and Inflammation.

Frontiers In Neuroscience
D Cabezudo, V Baekelandt, E Lobbestael
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32410948
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Substantia nigra hyperechogenicity in Parkinson disease patients with leucine-rich repeat kinase 2 variants in the Chinese Han population.

Chinese Medical Journal
K Li, CC Gu, JR Zhang, H Jin, YL Ge, J Chen, YP Yang, F Wang, CJ Mao, YC Zhang, CF Liu
Publication Date: 2020-05-11

Variant appearance in text: LRRK2: G2019S
PMID: 32404696
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Autophagy in Neurodegenerative Diseases: A Hunter for Aggregates.

International Journal Of Molecular Sciences
H Park, JH Kang, S Lee
Publication Date: 2020-05-10

Variant appearance in text: LRRK2: G2019S
PMID: 32397599
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Modeling Parkinson's Disease With the Alpha-Synuclein Protein.

Frontiers In Pharmacology
M Gómez-Benito, N Granado, P García-Sanz, A Michel, M Dumoulin, R Moratalla
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32390826
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CSF total and oligomeric α-Synuclein along with TNF-α as risk biomarkers for Parkinson's disease: a study in LRRK2 mutation carriers.

Translational Neurodegeneration
NK Majbour, JO Aasly, E Hustad, MA Thomas, NN Vaikath, N Elkum, WDJ van de Berg, T Tokuda, B Mollenhauer, HW Berendse, OMA El-Agnaf
Publication Date: 2020-05-06

Variant appearance in text: LRRK2: G2019S
PMID: 32375873
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Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson's disease pathogenesis.

Acta Neuropathologica Communications
S Smolders, C Van Broeckhoven
Publication Date: 2020-05-06

Variant appearance in text: LRRK2: Gly2019Ser
PMID: 32375870
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The Parkinson's Disease Protein LRRK2 Interacts with the GARP Complex to Promote Retrograde Transport to the trans-Golgi Network.

Cell Reports
A Beilina, L Bonet-Ponce, R Kumaran, JJ Kordich, M Ishida, A Mamais, A Kaganovich, S Saez-Atienzar, DC Gershlick, DA Roosen, L Pellegrini, V Malkov, MJ Fell, K Harvey, JS Bonifacino, DJ Moore, MR Cookson
Publication Date: 2020-05-05

Variant appearance in text: LRRK2: G2019S
PMID: 32375042
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Mitochondrial Homeostasis and Signaling in Parkinson's Disease.

Frontiers In Aging Neuroscience
A Scorziello, D Borzacchiello, MJ Sisalli, R Di Martino, M Morelli, A Feliciello
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32372945
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Alpha-Synuclein and LRRK2 in Synaptic Autophagy: Linking Early Dysfunction to Late-Stage Pathology in Parkinson's Disease.

Cells
G Lamonaca, M Volta
Publication Date: 2020-04-30

Variant appearance in text: LRRK2: G2019S
PMID: 32365906
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LRRK2 Is Recruited to Phagosomes and Co-recruits RAB8 and RAB10 in Human Pluripotent Stem Cell-Derived Macrophages.

Stem Cell Reports
H Lee, R Flynn, I Sharma, E Haberman, PJ Carling, FJ Nicholls, M Stegmann, J Vowles, W Haenseler, R Wade-Martins, WS James, SA Cowley
Publication Date: 2020-04-15

Variant appearance in text: LRRK2: G2019S
PMID: 32359446
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Modeling Neurodegenerative Disorders in Drosophila melanogaster.

International Journal Of Molecular Sciences
H Bolus, K Crocker, G Boekhoff-Falk, S Chtarbanova
Publication Date: 2020-04-26

Variant appearance in text: LRRK2: G2019S
PMID: 32357532
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Investigating lymphocyte populations in patients with Parkinson's disease.

Annals Of Translational Medicine
N Dzamko
Publication Date: 2020-03

Variant appearance in text: LRRK2: G2019S
PMID: 32355720
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Genetic predispositions of Parkinson's disease revealed in patient-derived brain cells.

Npj Parkinson'S Disease
J Tran, H Anastacio, C Bardy
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32352027
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C. elegans and Neurodegeneration In Caenorhabditis Elegans: Anatomy, Life Cycles and Biological Functions.

Advances In Medicine And Biology
EJ Martinez-Finley, S Chakraborty, S Caito, S Fretham, M Aschner
Publication Date: 2012

Variant appearance in text: LRRK2: G2019S
PMID: 32346495
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Ultrasensitive RT-QuIC assay with high sensitivity and specificity for Lewy body-associated synucleinopathies.

Acta Neuropathologica
M Rossi, N Candelise, S Baiardi, S Capellari, G Giannini, CD Orrù, E Antelmi, A Mammana, AG Hughson, G Calandra-Buonaura, A Ladogana, G Plazzi, P Cortelli, B Caughey, P Parchi
Publication Date: 2020-04-27

Variant appearance in text: LRRK2: G2019S
PMID: 32342188
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Identification of biomarkers associated with Parkinson's disease by gene expression profiling studies and bioinformatics analysis.

Aims Neuroscience
MG Krokidis
Publication Date: 2019

Variant appearance in text: LRRK2: Gly2019Ser
PMID: 32341987
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Imaging dopamine function and microglia in asymptomatic LRRK2 mutation carriers.

Journal Of Neurology
M Gersel Stokholm, A Garrido, E Tolosa, M Serradell, A Iranzo, K Østergaard, P Borghammer, A Møller, P Parbo, K Stær, DJ Brooks, MJ Martí, N Pavese
Publication Date: 2020-04-21

Variant appearance in text: LRRK2: G2019S
PMID: 32318850
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Binding of the Human 14-3-3 Isoforms to Distinct Sites in the Leucine-Rich Repeat Kinase 2.

Frontiers In Neuroscience
JT Manschwetus, M Wallbott, A Fachinger, C Obergruber, S Pautz, D Bertinetti, SH Schmidt, FW Herberg
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32317922
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SARS-CoV-2: at the crossroad between aging and neurodegeneration.

Movement Disorders : Official Journal Of The Movement Disorder Society
A Lippi, R Domingues, C Setz, TF Outeiro, A Krisko
Publication Date: 2020-04-15

Variant appearance in text: LRRK2: G2019S
PMID: 32291797
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Origins of Parkinson's Disease in Brain Development: Insights From Early and Persistent Effects of LRRK2-G2019S on Striatal Circuits.

Frontiers In Neuroscience
GW Huntley, DL Benson
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32273839
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CAV-2-Mediated GFP and LRRK2G2019S Expression in the Macaca fascicularis Brain.

Frontiers In Molecular Neuroscience
C di Caudo, I Martínez-Valbuena, IC Mundiñano, A Gennetier, M Hernandez, M Carmona-Abellan, I Marcilla Garcia, EJ Kremer, R Luquin
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32269512
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Biological links between traumatic brain injury and Parkinson's disease.

Acta Neuropathologica Communications
V Delic, KD Beck, KCH Pang, BA Citron
Publication Date: 2020-04-07

Variant appearance in text: LRRK2: G2019S
PMID: 32264976
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Modeling Parkinson's Disease Using Induced Pluripotent Stem Cells.

Stem Cells International
X Hu, C Mao, L Fan, H Luo, Z Hu, S Zhang, Z Yang, H Zheng, H Sun, Y Fan, J Yang, C Shi, Y Xu
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32256606
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The Emerging Functions of LRRK2 and Rab GTPases in the Endolysosomal System.

Frontiers In Neuroscience
T Kuwahara, T Iwatsubo
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32256311
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Historical Perspective: Models of Parkinson's Disease.

International Journal Of Molecular Sciences
SJ Chia, EK Tan, YX Chao
Publication Date: 2020-04-02

Variant appearance in text: LRRK2: G2019S
PMID: 32252301
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Missing heritability in Parkinson's disease: the emerging role of non-coding genetic variation.

Journal Of Neural Transmission (Vienna, Austria : 1996)
J Ohnmacht, P May, L Sinkkonen, R Krüger
Publication Date: 2020-04-04

Variant appearance in text: LRRK2: G2019S
PMID: 32248367
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Clinicopathologic and genetic features of multiple system atrophy with Lewy body disease.

Brain Pathology (Zurich, Switzerland)
S Koga, F Li, N Zhao, SF Roemer, TJ Ferman, AI Wernick, RL Walton, AH Faroqi, NR Graff-Radford, WP Cheshire, OA Ross, DW Dickson
Publication Date: 2020-03-30

Variant appearance in text: LRRK2: G2019S
PMID: 32232888
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PINK1-dependent phosphorylation of Serine111 within the SF3 motif of Rab GTPases impairs effector interactions and LRRK2 mediated phosphorylation at Threonine72.

The Biochemical Journal
S Vieweg, K Mulholland, B Brauning, N Kacharia, YC Lai, R Toth, PK Singh, I Volpi, M Sattler, M Groll, A Itzen, MMK Muqit
Publication Date: 2020-03-30

Variant appearance in text: LRRK2: G2019S
PMID: 32227113
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Association Between Parkinson's Disease and Melanoma: Putting the Pieces Together.

Frontiers In Aging Neuroscience
Q Ye, Y Wen, N Al-Kuwari, X Chen
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32210791
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Proteostasis of α-Synuclein and Its Role in the Pathogenesis of Parkinson's Disease.

Frontiers In Cellular Neuroscience
D Han, W Zheng, X Wang, Z Chen
Publication Date: 2020

Variant appearance in text: LRRK2: G2019S
PMID: 32210767
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Leucine Rich Repeat Kinase 2 and Innate Immunity.

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

Variant appearance in text: LRRK2: G2019S
PMID: 32210756
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Allosteric modulation of the GTPase activity of a bacterial LRRK2 homologue by conformation-specific Nanobodies.

The Biochemical Journal
M Leemans, C Galicia, E Deyaert, E Daems, L Krause, J Paesmans, E Pardon, J Steyaert, A Kortholt, F Sobott, D Klostermeier, W Versées
Publication Date: 2020-03-13

Variant appearance in text: LRRK2: G2019S
PMID: 32167135
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LRRK2 Mutations and Asian Disease-Associated Variants in the First Parkinson's Disease Cohort from Kazakhstan.

Parkinson'S Disease
R Kaiyrzhanov, A Aitkulova, C Shashkin, N Zharkinbekova, M Rizig, E Zholdybayeva, Z Jarmukhanov, V Akhmetzhanov, G Kaishibayeva, T Khaibullin, A Karimova, S Akshulakov, A Bralov, N Kissamedenov, Z Seidinova, A Taskinbayeva, A Muratbaikyzy, H Houlden
Publication Date: 2020

Variant appearance in text: LRRK2: 6055G>A; Gly2019Ser; rs34637584
PMID: 32148752
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Initiation and propagation of α-synuclein aggregation in the nervous system.

Molecular Neurodegeneration
BA Hijaz, LA Volpicelli-Daley
Publication Date: 2020-03-06

Variant appearance in text: LRRK2: G2019S
PMID: 32143659
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000298910.7 c.6055G>A p.Gly2019Ser missense_variant 41/51 -
ENST00000430804.1 c.*2728G>A - 3_prime_UTR_variant,NMD_transcript_variant 20/30 -
ENST00000479187.1 n.2736G>A - non_coding_transcript_exon_variant 18/26 -
NM_198578.4 c.6055G>A p.Gly2019Ser missense_variant 41/51 -