Publications:

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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: R793M

PubMed Link: 37189360

Variant Present in the following documents:

• Main text
• biomolecules-13-00612.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: R793M

PubMed Link: 37021623

Variant Present in the following documents:

• Main text
• ACN3-10-850.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: Arg793Met

PubMed Link: 35950872

Variant Present in the following documents:

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

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α-Synuclein antisense transcript SNCA-AS1 regulates synapses- and aging-related genes suggesting its implication in Parkinson's disease.

Aging Cell

Rey, Federica F; Pandini, Cecilia C; Messa, Letizia L; Launi, Rossella R; Barzaghini, Bianca B; Zangaglia, Roberta R; Raimondi, Manuela Teresa MT; Gagliardi, Stella S; Cereda, Cristina C; Zuccotti, Gian Vincenzo GV; Carelli, Stephana S

Publication Date: 2021-12

Variant appearance in text: LRRK2: R793M

PubMed Link: 34799977

Variant Present in the following documents:

• ACEL-20-e13504-s021.xlsx, sheet 1

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α-Synuclein antisense transcript SNCA-AS1 regulates synapses- and aging-related genes suggesting its implication in Parkinson's disease.

Aging Cell

Rey, Federica F; Pandini, Cecilia C; Messa, Letizia L; Launi, Rossella R; Barzaghini, Bianca B; Zangaglia, Roberta R; Raimondi, Manuela Teresa MT; Gagliardi, Stella S; Cereda, Cristina C; Zuccotti, Gian Vincenzo GV; Carelli, Stephana S

Publication Date: 2021-11-19

Variant appearance in text: LRRK2: R793M

PubMed Link: 34799977

Variant Present in the following documents:

• ACEL-20-e13504-s021.xlsx, sheet 1

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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: R793M

PubMed Link: 33922322

Variant Present in the following documents:

• Main text

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Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

International Journal Of Molecular Sciences

Chittoor-Vinod, Vinita G VG; Nichols, R Jeremy RJ; Schüle, Birgitt B

Publication Date: 2021-01-21

Variant appearance in text: LRRK2: 2378G>T; R793M

PubMed Link: 33494262

Variant Present in the following documents:

• Main text
• ijms-22-01045.pdf

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Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations.

Brain : A Journal Of Neurology

Rudakou, Uladzislau U; Yu, Eric E; Krohn, Lynne L; Ruskey, Jennifer A JA; Asayesh, Farnaz F; Dauvilliers, Yves Y; Spiegelman, Dan D; Greenbaum, Lior L; Fahn, Stanley S; Waters, Cheryl H CH; Dupré, Nicolas N; Rouleau, Guy A GA; Hassin-Baer, Sharon S; Fon, Edward A EA; Alcalay, Roy N RN; Gan-Or, Ziv Z

Publication Date: 2021-03-03

Variant appearance in text: LRRK2: Arg793Met; rs35173587

PubMed Link: 33349842

Variant Present in the following documents:

• Main text

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Alzheimer's disease tau is a prominent pathology in LRRK2 Parkinson's disease.

Acta Neuropathologica Communications

Henderson, Michael X MX; Sengupta, Medha M; Trojanowski, John Q JQ; Lee, Virginia M Y VMY

Publication Date: 2019-11-16

Variant appearance in text: LRRK2: R793M

PubMed Link: 31733655

Variant Present in the following documents:

• Main text
• 40478_2019_Article_836.pdf

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Deep brain stimulation and genetic variability in Parkinson's disease: a review of the literature.

Npj Parkinson'S Disease

Ligaard, Johanne J; Sannæs, Julia J; Pihlstrøm, Lasse L

Publication Date: 2019

Variant appearance in text: LRRK2: R793M

PubMed Link: 31508488

Variant Present in the following documents:

• Main text
• 41531_2019_Article_91.pdf

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Deep Brain Stimulation in Patients With Mutations in Parkinson's Disease-Related Genes: A Systematic Review.

Movement Disorders Clinical Practice

de Oliveira, Lais Machado LM; Barbosa, Egberto Reis ER; Aquino, Camila Catherine CC; Munhoz, Renato Puppi RP; Fasano, Alfonso A; Cury, Rubens Gisbert RG

Publication Date: 2019-06

Variant appearance in text: LRRK2: R793M

PubMed Link: 31286005

Variant Present in the following documents:

• Main text

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A Comprehensive Analysis of Population Differences in LRRK2 Variant Distribution in Parkinson's Disease.

Frontiers In Aging Neuroscience

Shu, Li L; Zhang, Yuan Y; Sun, Qiying Q; Pan, Hongxu H; Tang, Beisha B

Publication Date: 2019

Variant appearance in text: LRRK2: R793M

PubMed Link: 30760999

Variant Present in the following documents:

• Main text

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Association of Subthalamic Deep Brain Stimulation With Motor, Functional, and Pharmacologic Outcomes in Patients With Monogenic Parkinson Disease: A Systematic Review and Meta-analysis.

Jama Network Open

Artusi, Carlo Alberto CA; Dwivedi, Alok K AK; Romagnolo, Alberto A; Pal, Gian G; Kauffman, Marcelo M; Mata, Ignacio I; Patel, Dhiren D; Vizcarra, Joaquin A JA; Duker, Andrew A; Marsili, Luca L; Cheeran, Binith B; Woo, Daniel D; Contarino, Maria Fiorella MF; Verhagen, Leonard L; Lopiano, Leonardo L; Espay, Alberto J AJ; Fasano, Alfonso A; Merola, Aristide A

Publication Date: 2019-02-01

Variant appearance in text: LRRK2: R793M

PubMed Link: 30707228

Variant Present in the following documents:

• Main text

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Deep brain stimulation for monogenic Parkinson's disease: a systematic review.

Journal Of Neurology

Kuusimäki, Tomi T; Korpela, Jaana J; Pekkonen, Eero E; Martikainen, Mika H MH; Antonini, Angelo A; Kaasinen, Valtteri V

Publication Date: 2020-04

Variant appearance in text: LRRK2: R793M

PubMed Link: 30659355

Variant Present in the following documents:

• Main text
• 415_2019_Article_9181.pdf

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: LRRK2: R793M; rs35173587

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

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Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Movement Disorders : Official Journal Of The Movement Disorder Society

Schneider, Susanne A SA; Alcalay, Roy N RN

Publication Date: 2017-11

Variant appearance in text: LRRK2: R793M

PubMed Link: 29124790

Variant Present in the following documents:

• Main text

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Genome-wide assessment of Parkinson's disease in a Southern Spanish population.

Neurobiology Of Aging

Bandrés-Ciga, Sara S; Price, Timothy Ryan TR; Barrero, Francisco Javier FJ; Escamilla-Sevilla, Francisco F; Pelegrina, Javier J; Arepalli, Sampath S; Hernández, Dena D; Gutiérrez, Blanca B; Cervilla, Jorge J; Rivera, Margarita M; Rivera, Alberto A; Ding, Jing-Hui JH; Vives, Francisco F; Nalls, Michael M; Singleton, Andrew A; Durán, Raquel R

Publication Date: 2016-09

Variant appearance in text: LRRK2: Arg793Met; rs35173587

PubMed Link: 27393345

Variant Present in the following documents:

• Main text

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Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.

Molecular Neurodegeneration

Benitez, Bruno A BA; Davis, Albert A AA; Jin, Sheng Chih SC; Ibanez, Laura L; Ortega-Cubero, Sara S; Pastor, Pau P; Choi, Jiyoon J; Cooper, Breanna B; Perlmutter, Joel S JS; Cruchaga, Carlos C

Publication Date: 2016-04-19

Variant appearance in text: LRRK2: R793M

PubMed Link: 27094865

Variant Present in the following documents:

• Main text
• 13024_2016_Article_97.pdf

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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: R793M; rs35173587

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: LRRK2: R793M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs35173587

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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Structural biology of the LRRK2 GTPase and kinase domains: implications for regulation.

Frontiers In Molecular Neuroscience

Gilsbach, Bernd K BK; Kortholt, Arjan A

Publication Date: 2014

Variant appearance in text: LRRK2: Arg793Met

PubMed Link: 24847205

Variant Present in the following documents:

• Main text
• fnmol-07-00032.pdf

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TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT.

Neurobiology Of Aging

Ling, Helen H; Kara, Eleanna E; Bandopadhyay, Rina R; Hardy, John J; Holton, Janice J; Xiromerisiou, Georgia G; Lees, Andrew A; Houlden, Henry H; Revesz, Tamas T

Publication Date: 2013-12

Variant appearance in text: LRRK2: R793M

PubMed Link: 23664753

Variant Present in the following documents:

• Main text

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The neuropathology of genetic Parkinson's disease.

Movement Disorders : Official Journal Of The Movement Disorder Society

Poulopoulos, Markos M; Levy, Oren A OA; Alcalay, Roy N RN

Publication Date: 2012-06

Variant appearance in text: LRRK2: R793M

PubMed Link: 22451330

Variant Present in the following documents:

• Main text

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Olfaction in Parkinson's disease and related disorders.

Neurobiology Of Disease

Doty, Richard L RL

Publication Date: 2012-06

Variant appearance in text: LRRK2: R793M

PubMed Link: 22192366

Variant Present in the following documents:

• Main text

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Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.

The Lancet. Neurology

Ross, Owen A OA; Soto-Ortolaza, Alexandra I AI; Heckman, Michael G MG; Aasly, Jan O JO; Abahuni, Nadine N; Annesi, Grazia G; Bacon, Justin A JA; Bardien, Soraya S; Bozi, Maria M; Brice, Alexis A; Brighina, Laura L; Van Broeckhoven, Christine C; Carr, Jonathan J; Chartier-Harlin, Marie-Christine MC; Dardiotis, Efthimios E; Dickson, Dennis W DW; Diehl, Nancy N NN; Elbaz, Alexis A; Ferrarese, Carlo C; Ferraris, Alessandro A; Fiske, Brian B; Gibson, J Mark JM; Gibson, Rachel R; Hadjigeorgiou, Georgios M GM; Hattori, Nobutaka N; Ioannidis, John P A JP; Jasinska-Myga, Barbara B; Jeon, Beom S BS; Kim, Yun Joong YJ; Klein, Christine C; Kruger, Rejko R; Kyratzi, Elli E; Lesage, Suzanne S; Lin, Chin-Hsien CH; Lynch, Timothy T; Maraganore, Demetrius M DM; Mellick, George D GD; Mutez, Eugénie E; Nilsson, Christer C; Opala, Grzegorz G; Park, Sung Sup SS; Puschmann, Andreas A; Quattrone, Aldo A; Sharma, Manu M; Silburn, Peter A PA; Sohn, Young Ho YH; Stefanis, Leonidas L; Tadic, Vera V; Theuns, Jessie J; Tomiyama, Hiroyuki H; Uitti, Ryan J RJ; Valente, Enza Maria EM; van de Loo, Simone S; Vassilatis, Demetrios K DK; Vilariño-Güell, Carles C; White, Linda R LR; Wirdefeldt, Karin K; Wszolek, Zbigniew K ZK; Wu, Ruey-Meei RM; Farrer, Matthew J MJ; ,

Publication Date: 2011-10

Variant appearance in text: LRRK2: R793M; rs35173587

PubMed Link: 21885347

Variant Present in the following documents:

• Main text

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Models for LRRK2-Linked Parkinsonism.

Parkinson'S Disease

Li, Tianxia T; Yang, Dejun D; Sushchky, Sarah S; Liu, Zhaohui Z; Smith, Wanli W WW

Publication Date: 2011

Variant appearance in text: LRRK2: R793M

PubMed Link: 21603132

Variant Present in the following documents:

• PD2011-942412.pdf

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Leucine-rich repeat kinase 2 expression leads to aggresome formation that is not associated with alpha-synuclein inclusions.

Journal Of Neuropathology And Experimental Neurology

Waxman, Elisa A EA; Covy, Jason P JP; Bukh, Irene I; Li, Xiaojie X; Dawson, Ted M TM; Giasson, Benoit I BI

Publication Date: 2009-07

Variant appearance in text: LRRK2: R793M

PubMed Link: 19535993

Variant Present in the following documents:

• Main text

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Clinical and pathological characteristics of patients with leucine-rich repeat kinase-2 mutations.

Movement Disorders : Official Journal Of The Movement Disorder Society

Covy, Jason P JP; Yuan, Wuxing W; Waxman, Elisa A EA; Hurtig, Howard I HI; Van Deerlin, Vivianna M VM; Giasson, Benoit I BI

Publication Date: 2009-01-15

Variant appearance in text: LRRK2: 2378G>T

PubMed Link: 19006185

Variant Present in the following documents:

• Main text

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Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease.

Biochimica Et Biophysica Acta

Biskup, Saskia S; West, Andrew B AB

Publication Date: 2009-07

Variant appearance in text: LRRK2: R793M

PubMed Link: 18973807

Variant Present in the following documents:

• Main text

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Corticobasal syndrome and primary progressive aphasia as manifestations of LRRK2 gene mutations.

Neurology

Chen-Plotkin, A S AS; Yuan, W W; Anderson, C C; McCarty Wood, E E; Hurtig, H I HI; Clark, C M CM; Miller, B L BL; Lee, V M-Y VM; Trojanowski, J Q JQ; Grossman, M M; Van Deerlin, V M VM

Publication Date: 2008-02-12

Variant appearance in text: LRRK2: 2378G>T; R793M

PubMed Link: 17914064

Variant Present in the following documents:

• Main text

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LRRK2 expression in normal and pathologic human brain and in human cell lines.

Journal Of Neuropathology And Experimental Neurology

Miklossy, Judith J; Arai, Tetsuaki T; Guo, Jian-Ping JP; Klegeris, Andis A; Yu, Sheng S; McGeer, Edith G EG; McGeer, Patrick L PL

Publication Date: 2006-10

Variant appearance in text: PARK8: R793M

PubMed Link: 17021400

Variant Present in the following documents:

• Main text
• 65-10-953.pdf

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