Publications:

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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: R1441S

PubMed Link: 37238714

Variant Present in the following documents:

• Main text
• biomolecules-13-00845.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: R1441S

PubMed Link: 37021623

Variant Present in the following documents:

• ACN3-10-850.pdf

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Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson's disease.

Frontiers In Neuroscience

Turski, Paweł P; Chaberska, Iwona I; Szukało, Piotr P; Pyska, Paulina P; Milanowski, Łukasz Ł; Szlufik, Stanisław S; Figura, Monika M; Hoffman-Zacharska, Dorota D; Siuda, Joanna J; Koziorowski, Dariusz D

Publication Date: 2022

Variant appearance in text: LRRK2: Arg1441Ser

PubMed Link: 36203807

Variant Present in the following documents:

• Main text
• fnins-16-971270.pdf

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Impact of 100 LRRK2 variants linked to Parkinson's disease on kinase activity and microtubule binding.

The Biochemical Journal

Kalogeropulou, Alexia F AF; Purlyte, Elena E; Tonelli, Francesca F; Lange, Sven M SM; Wightman, Melanie M; Prescott, Alan R AR; Padmanabhan, Shalini S; Sammler, Esther E; Alessi, Dario R DR

Publication Date: 2022-09-16

Variant appearance in text: LRRK2: Arg1441Ser

PubMed Link: 35950872

Variant Present in the following documents:

• Main text
• BCJ-479-1759.pdf
• BCJ-479-1759-s1.pdf

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Mind the Gap: LRRK2 Phenotypes in the Clinic vs. in Patient Cells.

Cells

Goveas, Liesel L; Mutez, Eugénie E; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM

Publication Date: 2021-04-22

Variant appearance in text: LRRK2: R1441S

PubMed Link: 33922322

Variant Present in the following documents:

• Main text

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Profiling Non-motor Symptoms in Monogenic Parkinson's Disease.

Frontiers In Aging Neuroscience

Liu, Xinyao X; Le, Weidong W

Publication Date: 2020

Variant appearance in text: LRRK2: R1441S

PubMed Link: 33192488

Variant Present in the following documents:

• fnagi-12-591183.pdf

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The Current State-of-the Art of LRRK2-Based Biomarker Assay Development in Parkinson's Disease.

Frontiers In Neuroscience

Rideout, Hardy J HJ; Chartier-Harlin, Marie-Christine MC; Fell, Matthew J MJ; Hirst, Warren D WD; Huntwork-Rodriguez, Sarah S; Leyns, Cheryl E G CEG; Mabrouk, Omar S OS; Taymans, Jean-Marc JM

Publication Date: 2020

Variant appearance in text: LRRK2: Arg1441Ser

PubMed Link: 33013290

Variant Present in the following documents:

• Main text
• fnins-14-00865.pdf

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LRRK2 Phosphorylation, More Than an Epiphenomenon.

Frontiers In Neuroscience

Marchand, Antoine A; Drouyer, Matthieu M; Sarchione, Alessia A; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM

Publication Date: 2020

Variant appearance in text: LRRK2: Arg1441Ser

PubMed Link: 32612495

Variant Present in the following documents:

• fnins-14-00527.pdf

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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

Manschwetus, Jascha T JT; Wallbott, Maximilian M; Fachinger, Alexandra A; Obergruber, Claudia C; Pautz, Sabine S; Bertinetti, Daniela D; Schmidt, Sven H SH; Herberg, Friedrich W FW

Publication Date: 2020

Variant appearance in text: LRRK2: R1441S

PubMed Link: 32317922

Variant Present in the following documents:

• fnins-14-00302.pdf

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The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci.

Frontiers In Neurology

Germer, Elisabeth Luisa EL; Imhoff, Sophie S; Vilariño-Güell, Carles C; Kasten, Meike M; Seibler, Philip P; Brüggemann, Norbert N; , ; Klein, Christine C; Trinh, Joanne J

Publication Date: 2019

Variant appearance in text: LRRK2: R1441S

PubMed Link: 31920912

Variant Present in the following documents:

• Data_Sheet_1.pdf

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Inhibition of LRRK2 or Casein Kinase 1 Results in LRRK2 Protein Destabilization.

Molecular Neurobiology

De Wit, T T; Baekelandt, V V; Lobbestael, E E

Publication Date: 2019-08

Variant appearance in text: LRRK2: R1441S

PubMed Link: 30592011

Variant Present in the following documents:

• 12035_2018_Article_1449.pdf

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The Parkinson's disease VPS35[D620N] mutation enhances LRRK2-mediated Rab protein phosphorylation in mouse and human.

The Biochemical Journal

Mir, Rafeeq R; Tonelli, Francesca F; Lis, Pawel P; Macartney, Thomas T; Polinski, Nicole K NK; Martinez, Terina N TN; Chou, Meng-Yun MY; Howden, Andrew J M AJM; König, Theresa T; Hotzy, Christoph C; Milenkovic, Ivan I; Brücke, Thomas T; Zimprich, Alexander A; Sammler, Esther E; Alessi, Dario R DR

Publication Date: 2018-06-06

Variant appearance in text: LRRK2: R1441S

PubMed Link: 29743203

Variant Present in the following documents:

• Main text
• BCJ-475-1861.pdf

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Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry.

Npj Parkinson'S Disease

Cornejo-Olivas, Mario M; Torres, Luis L; Velit-Salazar, Mario R MR; Inca-Martinez, Miguel M; Mazzetti, Pilar P; Cosentino, Carlos C; Micheli, Federico F; Perandones, Claudia C; Dieguez, Elena E; Raggio, Victor V; Tumas, Vitor V; Borges, Vanderci V; Ferraz, Henrique B HB; Rieder, Carlos R M CRM; Shumacher-Schuh, Artur A; Velez-Pardo, Carlos C; Jimenez-Del-Rio, Marlene M; Lopera, Francisco F; Chang-Castello, Jorge J; Andreé-Munoz, Brennie B; Waldherr, Sarah S; Yearout, Dora D; Zabetian, Cyrus P CP; Mata, Ignacio F IF

Publication Date: 2017

Variant appearance in text: LRRK2: R1441S

PubMed Link: 28649619

Variant Present in the following documents:

• Main text
• 41531_2017_Article_20.pdf

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The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Mata, Ignacio F IF; Davis, Marie Y MY; Lopez, Alexis N AN; Dorschner, Michael O MO; Martinez, Erica E; Yearout, Dora D; Cholerton, Brenna A BA; Hu, Shu-Ching SC; Edwards, Karen L KL; Bird, Thomas D TD; Zabetian, Cyrus P CP

Publication Date: 2016-10

Variant appearance in text: LRRK2: 4321C>A; R1441S

PubMed Link: 27111571

Variant Present in the following documents:

• Main text

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