LRRK2 c.5096A>G ;(p.Y1699C)

Variant ID: 12-40714916-A-G

NM_198578.3(LRRK2):c.5096A>G;(p.Y1699C)

This variant was identified in 413 publications

View GRCh38 version.




Publications:


Overview of the Impact of Pathogenic LRRK2 Mutations in Parkinson's Disease.

Biomolecules
Ito, Genta G; Utsunomiya-Tate, Naoko N
Publication Date: 2023-05-16

Variant appearance in text: PARK8: Y1699C
PubMed Link: 37238714
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00845.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: Y1699C
PubMed Link: 37189360
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00612.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: Y1699C
PubMed Link: 37150812
Variant Present in the following documents:
  • Main text
  • 40035_2023_Article_354.pdf
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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: Y1699C
PubMed Link: 37066923
Variant Present in the following documents:
  • Main text
  • jpd-13-jpd230021.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: Y1699C
PubMed Link: 37021623
Variant Present in the following documents:
  • Main text
  • ACN3-10-850.pdf
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A Perspective on the Link between Mitochondria-Associated Membranes (MAMs) and Lipid Droplets Metabolism in Neurodegenerative Diseases.

Biology
Fernandes, Tânia T; Domingues, M Rosário MR; Moreira, Paula I PI; Pereira, Cláudia F CF
Publication Date: 2023-03-08

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 36979106
Variant Present in the following documents:
  • Main text
  • biology-12-00414.pdf
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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: Y1699C
PubMed Link: 36929701
Variant Present in the following documents:
  • Main text
  • BST-51-587.pdf
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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: PARK8: Y1699C
PubMed Link: 36899942
Variant Present in the following documents:
  • Main text
  • cells-12-00806.pdf
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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: Y1699C
PubMed Link: 36896008
Variant Present in the following documents:
  • Main text
  • fnmol-16-1097633.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: Y1699C
PubMed Link: 36671564
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00178.pdf
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Structural basis for Parkinson's disease-linked LRRK2's binding to microtubules.

Nature Structural & Molecular Biology
Snead, David M DM; Matyszewski, Mariusz M; Dickey, Andrea M AM; Lin, Yu Xuan YX; Leschziner, Andres E AE; Reck-Peterson, Samara L SL
Publication Date: 2022-12-12

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 36510024
Variant Present in the following documents:
  • Main text
  • 41594_2022_Article_863.pdf
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Pathogenesis of α-Synuclein in Parkinson's Disease: From a Neuron-Glia Crosstalk Perspective.

International Journal Of Molecular Sciences
Yi, Shuanglong S; Wang, Linfang L; Wang, Honglei H; Ho, Margaret S MS; Zhang, Shiping S
Publication Date: 2022-11-25

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 36499080
Variant Present in the following documents:
  • Main text
  • ijms-23-14753.pdf
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Parkinson disease-associated Leucine-rich repeat kinase regulates UNC-104-dependent axonal transport of Arl8-positive vesicles in Drosophila.

Iscience
Inoshita, Tsuyoshi T; Liu, Jun-Yi JY; Taniguchi, Daisuke D; Ishii, Ryota R; Shiba-Fukushima, Kahori K; Hattori, Nobutaka N; Imai, Yuzuru Y
Publication Date: 2022-12-22

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 36404922
Variant Present in the following documents:
  • Main text
  • main.pdf
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Development of mutation-selective LRRK2 kinase inhibitors as precision medicine for Parkinson's disease and other diseases for which carriers are at increased risk.

Frontiers In Neurology
Lesniak, Robert K RK; Nichols, R Jeremy RJ; Montine, Thomas J TJ
Publication Date: 2022

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 36388213
Variant Present in the following documents:
  • Main text
  • fneur-13-1016040.pdf
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LRRK2 and Lipid Pathways: Implications for Parkinson's Disease.

Biomolecules
Galper, Jasmin J; Kim, Woojin S WS; Dzamko, Nicolas N
Publication Date: 2022-10-30

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 36358947
Variant Present in the following documents:
  • Main text
  • biomolecules-12-01597.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: Y1699C
PubMed Link: 36291241
Variant Present in the following documents:
  • Main text
  • brainsci-12-01308.pdf
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Long-term inhibition of mutant LRRK2 hyper-kinase activity reduced mouse brain α-synuclein oligomers without adverse effects.

Npj Parkinson'S Disease
Ho, Philip Wing-Lok PW; Chang, Eunice Eun-Seo EE; Leung, Chi-Ting CT; Liu, Huifang H; Malki, Yasine Y; Pang, Shirley Yin-Yu SY; Choi, Zoe Yuen-Kiu ZY; Liang, Yingmin Y; Lai, Weng Seng WS; Ruan, Yuefei Y; Leung, Kenneth Mei-Yee KM; Yung, Susan S; Mak, Judith Choi-Wo JC; Kung, Michelle Hiu-Wai MH; Ramsden, David B DB; Ho, Shu-Leong SL
Publication Date: 2022-09-10

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 36088364
Variant Present in the following documents:
  • Main text
  • 41531_2022_Article_386.pdf
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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: Y1699C
PubMed Link: 36009486
Variant Present in the following documents:
  • biomedicines-10-01941.pdf
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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: Y1699C
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: Y1699C
PubMed Link: 35743250
Variant Present in the following documents:
  • Main text
  • ijms-23-06808.pdf
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Animal models in the study of Alzheimer's disease and Parkinson's disease: A historical perspective.

Animal Models And Experimental Medicine
Banerjee, Rajashree R; Rai, Arushi A; Iyer, Shreyas M SM; Narwal, Sonia S; Tare, Meghana M
Publication Date: 2022-02

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 35229999
Variant Present in the following documents:
  • Main text
  • AME2-5-27.pdf
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LRRK2 dynamics analysis identifies allosteric control of the crosstalk between its catalytic domains.

Plos Biology
Weng, Jui-Hung JH; Aoto, Phillip C PC; Lorenz, Robin R; Wu, Jian J; Schmidt, Sven H SH; Manschwetus, Jascha T JT; Kaila-Sharma, Pallavi P; Silletti, Steve S; Mathea, Sebastian S; Chatterjee, Deep D; Knapp, Stefan S; Herberg, Friedrich W FW; Taylor, Susan S SS
Publication Date: 2022-02

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 35192607
Variant Present in the following documents:
  • Main text
  • pbio.3001427.pdf
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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: Y1699C
PubMed Link: 35152914
Variant Present in the following documents:
  • Main text
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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: Y1699C
PubMed Link: 35003622
Variant Present in the following documents:
  • Main text
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Mutations in LRRK2 linked to Parkinson disease sequester Rab8a to damaged lysosomes and regulate transferrin-mediated iron uptake in microglia.

Plos Biology
Mamais, Adamantios A; Kluss, Jillian H JH; Bonet-Ponce, Luis L; Landeck, Natalie N; Langston, Rebekah G RG; Smith, Nathan N; Beilina, Alexandra A; Kaganovich, Alice A; Ghosh, Manik C MC; Pellegrini, Laura L; Kumaran, Ravindran R; Papazoglou, Ioannis I; Heaton, George R GR; Bandopadhyay, Rina R; Maio, Nunziata N; Kim, Changyoun C; LaVoie, Matthew J MJ; Gershlick, David C DC; Cookson, Mark R MR
Publication Date: 2021-12

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 34914695
Variant Present in the following documents:
  • Main text
  • pbio.3001480.pdf
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Mutations in LRRK2 linked to Parkinson disease sequester Rab8a to damaged lysosomes and regulate transferrin-mediated iron uptake in microglia.

Plos Biology
Mamais, Adamantios A; Kluss, Jillian H JH; Bonet-Ponce, Luis L; Landeck, Natalie N; Langston, Rebekah G RG; Smith, Nathan N; Beilina, Alexandra A; Kaganovich, Alice A; Ghosh, Manik C MC; Pellegrini, Laura L; Kumaran, Ravindran R; Papazoglou, Ioannis I; Heaton, George R GR; Bandopadhyay, Rina R; Maio, Nunziata N; Kim, Changyoun C; LaVoie, Matthew J MJ; Gershlick, David C DC; Cookson, Mark R MR
Publication Date: 2021-12

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 34914695
Variant Present in the following documents:
  • Main text
  • pbio.3001480.pdf
View BVdb publication page



Pharmacological Modulation of Nrf2/HO-1 Signaling Pathway as a Therapeutic Target of Parkinson's Disease.

Frontiers In Pharmacology
Wang, Yumin Y; Gao, Luyan L; Chen, Jichao J; Li, Qiang Q; Huo, Liang L; Wang, Yanchao Y; Wang, Hongquan H; Du, Jichen J
Publication Date: 2021

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 34887759
Variant Present in the following documents:
  • Main text
  • fphar-12-757161.pdf
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Inhibition of LRRK2 kinase activity promotes anterograde axonal transport and presynaptic targeting of α-synuclein.

Acta Neuropathologica Communications
Brzozowski, Charlotte F CF; Hijaz, Baraa A BA; Singh, Vijay V; Gcwensa, Nolwazi Z NZ; Kelly, Kaela K; Boyden, Edward S ES; West, Andrew B AB; Sarkar, Deblina D; Volpicelli-Daley, Laura A LA
Publication Date: 2021-11-08

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 34749824
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeting autophagy using small-molecule compounds to improve potential therapy of Parkinson's disease.

Acta Pharmaceutica Sinica. B
Zhang, Kai K; Zhu, Shiou S; Li, Jiamei J; Jiang, Tingting T; Feng, Lu L; Pei, Junping J; Wang, Guan G; Ouyang, Liang L; Liu, Bo B
Publication Date: 2021-10

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 34729301
Variant Present in the following documents:
  • Main text
  • main.pdf
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Astrocyte dysfunction in Parkinson's disease: from the perspectives of transmitted α-synuclein and genetic modulation.

Translational Neurodegeneration
Wang, Changjing C; Yang, Tongtong T; Liang, Meiyu M; Xie, Junxia J; Song, Ning N
Publication Date: 2021-10-18

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 34657636
Variant Present in the following documents:
  • Main text
  • 40035_2021_Article_265.pdf
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Astrocyte dysfunction in Parkinson's disease: from the perspectives of transmitted α-synuclein and genetic modulation.

Translational Neurodegeneration
Wang, Changjing C; Yang, Tongtong T; Liang, Meiyu M; Xie, Junxia J; Song, Ning N
Publication Date: 2021-10-18

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 34657636
Variant Present in the following documents:
  • Main text
  • 40035_2021_Article_265.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: Y1699C
PubMed Link: 34630269
Variant Present in the following documents:
  • Main text
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The Regulation of Rab GTPases by Phosphorylation.

Biomolecules
Xu, Lejia L; Nagai, Yuki Y; Kajihara, Yotaro Y; Ito, Genta G; Tomita, Taisuke T
Publication Date: 2021-09-10

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 34572553
Variant Present in the following documents:
  • Main text
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Pathways to Parkinson's disease: a spotlight on 14-3-3 proteins.

Npj Parkinson'S Disease
Giusto, E E; Yacoubian, T A TA; Greggio, E E; Civiero, L L
Publication Date: 2021-09-21

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 34548498
Variant Present in the following documents:
  • Main text
  • 41531_2021_Article_230.pdf
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Circuit imaging biomarkers in preclinical and prodromal Parkinson's disease.

Molecular Medicine (Cambridge, Mass.)
Meles, Sanne K SK; Oertel, Wolfgang H WH; Leenders, Klaus L KL
Publication Date: 2021-09-16

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 34530732
Variant Present in the following documents:
  • Main text
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Deletion of lrrk2 causes early developmental abnormalities and age-dependent increase of monoamine catabolism in the zebrafish brain.

Plos Genetics
Suzzi, Stefano S; Ahrendt, Reiner R; Hans, Stefan S; Semenova, Svetlana A SA; Chekuru, Avinash A; Wirsching, Paul P; Kroehne, Volker V; Bilican, Saygın S; Sayed, Shady S; Winkler, Sylke S; Spieß, Sandra S; Machate, Anja A; Kaslin, Jan J; Panula, Pertti P; Brand, Michael M
Publication Date: 2021-09

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 34516550
Variant Present in the following documents:
  • Main text
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Impact of Type II LRRK2 inhibitors on signaling and mitophagy.

The Biochemical Journal
Tasegian, Anna A; Singh, Francois F; Ganley, Ian G IG; Reith, Alastair D AD; Alessi, Dario R DR
Publication Date: 2021-10-15

Variant appearance in text: LRRK2: Y1699C
PubMed Link: 34515301
Variant Present in the following documents:
  • Main text
View BVdb publication page