LRRK2 c.4321C>T ;(p.R1441C)

Variant ID: 12-40704236-C-T

NM_198578.3(LRRK2):c.4321C>T;(p.R1441C)

This variant was identified in 733 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: LRRK2: R1441C
PubMed Link: 37238714
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00845.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: R1441C
PubMed Link: 37200505
Variant Present in the following documents:
  • Main text
  • cn3c00259.pdf
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The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China.

Npj Parkinson'S Disease
Sun, Yi-Min YM; Zhou, Xin-Yue XY; Liang, Xiao-Niu XN; Lin, Jin-Ran JR; Xu, Yi-Dan YD; Chen, Chen C; Wei, Si-Di SD; Chen, Qi-Si QS; Liu, Feng-Tao FT; Zhao, Jue J; Tang, Yi-Lin YL; Shen, Bo B; Gan, Lin-Hua LH; Lu, Boxun B; Ding, Zheng-Tong ZT; An, Yu Y; Wu, Jian-Jun JJ; Wang, Jian J
Publication Date: 2023-05-17

Variant appearance in text: LRRK2: Arg1441Cys
PubMed Link: 37198191
Variant Present in the following documents:
  • 41531_2023_518_MOESM1_ESM.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: R1441C
PubMed Link: 37189360
Variant Present in the following documents:
  • biomolecules-13-00612.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: R1441C
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: R1441C
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: R1441C
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: R1441C
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: R1441C
PubMed Link: 36982356
Variant Present in the following documents:
  • Main text
  • ijms-24-05281.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: R1441C
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: R1441C
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: R1441C
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: R1441C
PubMed Link: 36671564
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00178.pdf
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LRRK2 decreases microglial actin dynamics by filamentous actin depolymerization and Rac1 inhibition.

Animal Cells And Systems
Kim, Beomsue B; Suh, Young Ho YH; Joe, Eunhye E
Publication Date: 2022

Variant appearance in text: LRRK2: R1441c
PubMed Link: 36605588
Variant Present in the following documents:
  • TACS_26_2158219.pdf
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Mechanisms of Autoimmune Cell in DA Neuron Apoptosis of Parkinson's Disease: Recent Advancement.

Oxidative Medicine And Cellular Longevity
Zheng, Zijian Z; Zhang, Shushan S; Zhang, Hanwen H; Gao, Zhongzheng Z; Wang, Xiangrong X; Liu, Xinjie X; Xue, Cheng C; Yao, Longping L; Lu, Guohui G
Publication Date: 2022

Variant appearance in text: LRRK2: R1441C
PubMed Link: 36567855
Variant Present in the following documents:
  • OMCL2022-7965433.pdf
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How Well Do Rodent Models of Parkinson's Disease Recapitulate Early Non-Motor Phenotypes? A Systematic Review.

Biomedicines
Zhang, Tracy D TD; Kolbe, Scott C SC; Beauchamp, Leah C LC; Woodbridge, Ella K EK; Finkelstein, David I DI; Burrows, Emma L EL
Publication Date: 2022-11-24

Variant appearance in text: LRRK2: R1441C
PubMed Link: 36551782
Variant Present in the following documents:
  • Main text
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Iron-induced cytotoxicity mediated by endolysosomal TRPML1 channels is reverted by TFEB.

Cell Death & Disease
Fernández, Belén B; Olmedo, Pablo P; Gil, Fernando F; Fdez, Elena E; Naaldijk, Yahaira Y; Rivero-Ríos, Pilar P; Bracher, Franz F; Grimm, Christian C; Churchill, Grant C GC; Hilfiker, Sabine S
Publication Date: 2022-12-16

Variant appearance in text: LRRK2: R1441C
PubMed Link: 36522443
Variant Present in the following documents:
  • Main text
  • 41419_2022_Article_5504.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: R1441C
PubMed Link: 36510024
Variant Present in the following documents:
  • Main text
  • 41594_2022_Article_863.pdf
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Early-Onset Parkinson's Disease: Creating the Right Environment for a Genetic Disorder.

Journal Of Parkinson'S Disease
Kolicheski, Ana A; Turcano, Pierpaolo P; Tamvaka, Nicole N; McLean, Pamela J PJ; Springer, Wolfdieter W; Savica, Rodolfo R; Ross, Owen A OA
Publication Date: 2022-12-05

Variant appearance in text: LRRK2: R1441C
PubMed Link: 36502340
Variant Present in the following documents:
  • jpd-12-jpd223380.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: R1441C
PubMed Link: 36499080
Variant Present in the following documents:
  • Main text
  • ijms-23-14753.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: R1441C
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: R1441C
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: R1441C
PubMed Link: 36291241
Variant Present in the following documents:
  • Main text
  • brainsci-12-01308.pdf
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Brain-restricted mTOR inhibition with binary pharmacology.

Nature
Zhang, Ziyang Z; Fan, Qiwen Q; Luo, Xujun X; Lou, Kevin K; Weiss, William A WA; Shokat, Kevan M KM
Publication Date: 2022-09

Variant appearance in text: LRRK2: R1441C
PubMed Link: 36104566
Variant Present in the following documents:
  • 41586_2022_5213_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: R1441C
PubMed Link: 36088364
Variant Present in the following documents:
  • Main text
  • 41531_2022_Article_386.pdf
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Lysosomal Pathogenesis of Parkinson's Disease: Insights From LRRK2 and GBA1 Rodent Models.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics
Volta, Mattia M
Publication Date: 2022-09-09

Variant appearance in text: LRRK2: R1441C
PubMed Link: 36085537
Variant Present in the following documents:
  • Main text
  • 13311_2022_Article_1290.pdf
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A lymphatic-absorbed multi-targeted kinase inhibitor for myelofibrosis therapy.

Nature Communications
Ross, Brian D BD; Jang, Youngsoon Y; Welton, Amanda A; Bonham, Christopher A CA; Palagama, Dilrukshika S W DSW; Heist, Kevin K; Boppisetti, Jagadish J; Imaduwage, Kasun P KP; Robison, Tanner T; King, Leah R LR; Zhang, Edward Z EZ; Amirfazli, Cyrus C; Luker, Kathryn E KE; Lee, Winston Y WY; Luker, Gary D GD; Chenevert, Thomas L TL; Van Dort, Marcian E ME
Publication Date: 2022-08-17

Variant appearance in text: LRRK2: R1441C
PubMed Link: 35977945
Variant Present in the following documents:
  • 41467_2022_32486_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Increased Phospho-AKT in Blood Cells from LRRK2 G2019S Mutation Carriers.

Annals Of Neurology
Garrido, Alicia A; Pérez-Sisqués, Leticia L; Simonet, Cristina C; Campoy-Campos, Genís G; Solana-Balaguer, Júlia J; Martín-Flores, Núria N; Fernández, Manel M; Soto, Marta M; Obiang, Donina D; Cámara, Ana A; Valldeoriola, Francesc F; Muñoz, Esteban E; Compta, Yaroslau Y; Pérez-Navarro, Esther E; Alberch, Jordi J; Tolosa, Eduardo E; Martí, María-José MJ; Ezquerra, Mario M; Malagelada, Cristina C; Fernández-Santiago, Rubén R
Publication Date: 2022-11

Variant appearance in text: LRRK2: R1441C
PubMed Link: 35929078
Variant Present in the following documents:
  • Main text
  • ANA-92-888.pdf
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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: Arg1441Cys
PubMed Link: 35913124
Variant Present in the following documents:
  • Main text
  • ANA-92-715.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: R1441C
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: R1441C
PubMed Link: 35743250
Variant Present in the following documents:
  • Main text
  • ijms-23-06808.pdf
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Genetics of validated Parkinson's disease subtypes in the Oxford Discovery and Tracking Parkinson's cohorts.

Journal Of Neurology, Neurosurgery, And Psychiatry
Lawton, Michael M; Tan, Manuela Mx MM; Ben-Shlomo, Yoav Y; Baig, Fahd F; Barber, Thomas T; Klein, Johannes C JC; Evetts, Samuel G SG; Millin, Stephanie S; Malek, Naveed N; Grosset, Katherine K; Barker, Roger A RA; Williams, Nigel N; Burn, David J DJ; Foltynie, Thomas T; Morris, Huw R HR; Wood, Nicholas N; Grosset, Donald G DG; Hu, Michele Tao-Ming MT
Publication Date: 2022-06-22

Variant appearance in text: LRRK2: R1441C
PubMed Link: 35732412
Variant Present in the following documents:
  • Main text
View BVdb publication page