Publications:

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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: Thr2356Ile

PubMed Link: 35950872

Variant Present in the following documents:

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

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Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Molecular Neurodegeneration

Gialluisi, Alessandro A; Reccia, Mafalda Giovanna MG; Modugno, Nicola N; Nutile, Teresa T; Lombardi, Alessia A; Di Giovannantonio, Luca Giovanni LG; Pietracupa, Sara S; Ruggiero, Daniela D; Scala, Simona S; Gambardella, Stefano S; , ; Iacoviello, Licia L; Gianfrancesco, Fernando F; Acampora, Dario D; D'Esposito, Maurizio M; Simeone, Antonio A; Ciullo, Marina M; Esposito, Teresa T

Publication Date: 2021-06-21

Variant appearance in text: LRRK2: T2356I; rs113511708

PubMed Link: 34148545

Variant Present in the following documents:

• 13024_2021_455_MOESM1_ESM.pdf

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Crystal structure of the WD40 domain dimer of LRRK2.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Zhang, Pengfei P; Fan, Ying Y; Ru, Heng H; Wang, Li L; Magupalli, Venkat Giri VG; Taylor, Susan S SS; Alessi, Dario R DR; Wu, Hao H

Publication Date: 2019-01-29

Variant appearance in text: LRRK2: T2356I

PubMed Link: 30635421

Variant Present in the following documents:

• Main text
• pnas.201817889.pdf
• pnas.1817889116.sapp.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: T2356I

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: T2356I

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: LRRK2: T2356I

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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Modeling and imaging cardiac sympathetic neurodegeneration in Parkinson's disease.

American Journal Of Nuclear Medicine And Molecular Imaging

Joers, Valerie V; Emborg, Marina E ME

Publication Date: 2014

Variant appearance in text: LRRK2: T2356I

PubMed Link: 24753981

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: T2356I; rs113511708

PubMed Link: 21885347

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: T2356I

PubMed Link: 18973807

Variant Present in the following documents:

• Main text

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Familial parkinsonism: study of original Sagamihara PARK8 (I2020T) kindred with variable clinicopathologic outcomes.

Parkinsonism & Related Disorders

Hasegawa, Kazuko K; Stoessl, A Jon AJ; Yokoyama, Teruo T; Kowa, Hisayuki H; Wszolek, Zbigniew K ZK; Yagishita, Saburo S

Publication Date: 2009-05

Variant appearance in text: PARK8: T2356I

PubMed Link: 18804399

Variant Present in the following documents:

• Main text

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LRRK2 phosphorylates moesin at threonine-558: characterization of how Parkinson's disease mutants affect kinase activity.

The Biochemical Journal

Jaleel, Mahaboobi M; Nichols, R Jeremy RJ; Deak, Maria M; Campbell, David G DG; Gillardon, Frank F; Knebel, Axel A; Alessi, Dario R DR

Publication Date: 2007-07-15

Variant appearance in text: LRRK2: T2356I

PubMed Link: 17447891

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: T2356I

PubMed Link: 17021400

Variant Present in the following documents:

• Main text
• 65-10-953.pdf

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