LRRK2 c.577G>A ;(p.E193K)

Variant ID: 12-40634290-G-A

NM_198578.3(LRRK2):c.577G>A;(p.E193K)

This variant was identified in 17 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: E193K
PubMed Link: 37189360
Variant Present in the following documents:
  • biomolecules-13-00612.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: E193K
PubMed Link: 35743250
Variant Present in the following documents:
  • Main text
  • ijms-23-06808.pdf
View BVdb publication page



Insights into the Pathogenesis of Neurodegenerative Diseases: Focus on Mitochondrial Dysfunction and Oxidative Stress.

International Journal Of Molecular Sciences
Jurcau, Anamaria A
Publication Date: 2021-10-31

Variant appearance in text: LRRK2: E193K
PubMed Link: 34769277
Variant Present in the following documents:
  • Main text
  • ijms-22-11847.pdf
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A Conserved Role for LRRK2 and Roco Proteins in the Regulation of Mitochondrial Activity.

Frontiers In Cell And Developmental Biology
Rosenbusch, Katharina E KE; Oun, Asmaa A; Sanislav, Oana O; Lay, Sui T ST; Keizer-Gunnink, Ineke I; Annesley, Sarah J SJ; Fisher, Paul R PR; Dolga, Amalia M AM; Kortholt, Arjan A
Publication Date: 2021

Variant appearance in text: LRRK2: E193K
PubMed Link: 34568343
Variant Present in the following documents:
  • Main text
  • fcell-09-734554.pdf
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Selective Neuron Vulnerability in Common and Rare Diseases-Mitochondria in the Focus.

Frontiers In Molecular Biosciences
Paß, Thomas T; Wiesner, Rudolf J RJ; Pla-Martín, David D
Publication Date: 2021

Variant appearance in text: LRRK2: E193K
PubMed Link: 34295920
Variant Present in the following documents:
  • fmolb-08-676187.pdf
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Conformation and dynamics of the kinase domain drive subcellular location and activation of LRRK2.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Schmidt, Sven H SH; Weng, Jui-Hung JH; Aoto, Phillip C PC; Boassa, Daniela D; Mathea, Sebastian S; Silletti, Steve S; Hu, Junru J; Wallbott, Maximilian M; Komives, Elizabeth A EA; Knapp, Stefan S; Herberg, Friedrich W FW; Taylor, Susan S SS
Publication Date: 2021-06-08

Variant appearance in text: LRRK2: E193K
PubMed Link: 34088839
Variant Present in the following documents:
  • pnas.202100844.pdf
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LRRK2 at the Crossroad of Aging and Parkinson's Disease.

Genes
Hur, Eun-Mi EM; Lee, Byoung Dae BD
Publication Date: 2021-03-29

Variant appearance in text: LRRK2: E193K
PubMed Link: 33805527
Variant Present in the following documents:
  • genes-12-00505.pdf
View BVdb publication page



LncRNA XIST sponges miR-199a-3p to modulate the Sp1/LRRK2 signal pathway to accelerate Parkinson's disease progression.

Aging
Zhou, Qian Q; Zhang, Ming-Ming MM; Liu, Min M; Tan, Zhi-Gang ZG; Qin, Qi-Lin QL; Jiang, Yu-Gang YG
Publication Date: 2021-01-20

Variant appearance in text: LRRK2: E193K
PubMed Link: 33494069
Variant Present in the following documents:
  • aging-13-202378.pdf
View BVdb publication page



A Critical LRRK at the Synapse? The Neurobiological Function and Pathophysiological Dysfunction of LRRK2.

Frontiers In Molecular Neuroscience
Kuhlmann, Naila N; Milnerwood, Austen J AJ
Publication Date: 2020

Variant appearance in text: LRRK2: E193K
PubMed Link: 32973447
Variant Present in the following documents:
  • fnmol-13-00153.pdf
View BVdb publication page



From Synaptic Dysfunction to Neuroprotective Strategies in Genetic Parkinson's Disease: Lessons From LRRK2.

Frontiers In Cellular Neuroscience
Mancini, Andrea A; Mazzocchetti, Petra P; Sciaccaluga, Miriam M; Megaro, Alfredo A; Bellingacci, Laura L; Beccano-Kelly, Dayne A DA; Di Filippo, Massimiliano M; Tozzi, Alessandro A; Calabresi, Paolo P
Publication Date: 2020

Variant appearance in text: LRRK2: E193K
PubMed Link: 32848606
Variant Present in the following documents:
  • Main text
  • fncel-14-00158.pdf
View BVdb publication page



LRRK2 and α-Synuclein: Distinct or Synergistic Players in Parkinson's Disease?

Frontiers In Neuroscience
O'Hara, Darren M DM; Pawar, Grishma G; Kalia, Suneil K SK; Kalia, Lorraine V LV
Publication Date: 2020

Variant appearance in text: LRRK2: E193K
PubMed Link: 32625052
Variant Present in the following documents:
  • Main text
View BVdb publication page



Guilt-by-Association - Functional Insights Gained From Studying the LRRK2 Interactome.

Frontiers In Neuroscience
Gloeckner, Christian Johannes CJ; Porras, Pablo P
Publication Date: 2020

Variant appearance in text: LRRK2: E193K
PubMed Link: 32508578
Variant Present in the following documents:
  • Main text
  • fnins-14-00485.pdf
View BVdb publication page



The LRRK2 N-terminal domain influences vesicle trafficking: impact of the E193K variant.

Scientific Reports
Marku, Algerta A; Carrion, Maria Dolores Perez MDP; Pischedda, Francesca F; Marte, Antonella A; Casiraghi, Zeila Z; Marciani, Paola P; von Zweydorf, Felix F; Gloeckner, Christian Johannes CJ; Onofri, Franco F; Perego, Carla C; Piccoli, Giovanni G
Publication Date: 2020-03-02

Variant appearance in text: LRRK2: E193K
PubMed Link: 32123243
Variant Present in the following documents:
  • Main text
  • 41598_2020_60834_MOESM1_ESM.pdf
  • 41598_2020_Article_60834.pdf
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GSK-3β Inhibitor Alsterpaullone Attenuates MPP+-Induced Cell Damage in a c-Myc-Dependent Manner in SH-SY5Y Cells.

Frontiers In Cellular Neuroscience
Wang, Jiancai J; Li, Yuqian Y; Gao, Li L; Yan, Fengqi F; Gao, Guodong G; Li, Lihong L
Publication Date: 2018

Variant appearance in text: LRRK2: E193K
PubMed Link: 30233322
Variant Present in the following documents:
  • fncel-12-00283.pdf
View BVdb publication page



LRRK2 and mitochondria: Recent advances and current views.

Brain Research
Singh, Alpana A; Zhi, Lianteng L; Zhang, Hui H
Publication Date: 2019-01-01

Variant appearance in text: LRRK2: E193K
PubMed Link: 29894679
Variant Present in the following documents:
  • Main text
View BVdb publication page



The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1.

Frontiers In Molecular Neuroscience
Perez Carrion, Maria M; Pischedda, Francesca F; Biosa, Alice A; Russo, Isabella I; Straniero, Letizia L; Civiero, Laura L; Guida, Marianna M; Gloeckner, Christian J CJ; Ticozzi, Nicola N; Tiloca, Cinzia C; Mariani, Claudio C; Pezzoli, Gianni G; Duga, Stefano S; Pichler, Irene I; Pan, Lifeng L; Landers, John E JE; Greggio, Elisa E; Hess, Michael W MW; Goldwurm, Stefano S; Piccoli, Giovanni G
Publication Date: 2018

Variant appearance in text: LRRK2: E193K
PubMed Link: 29541021
Variant Present in the following documents:
  • Main text
  • Image_1.pdf
  • fnmol-11-00064.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: PARK8: E193K
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page