Agin-Liebes J, Cortes E, Vonsattel JP, Marder K, Alcalay RN. Movement disorders rounds: a case of missing pathology in a patient with LRRK2 Parkinson’s disease. Parkinsonism Relat Disord. 2020;74:76–7.
Alcalay RN, Mirelman A, Saunders-Pullman R, Tang MX, Mejia Santana H, Raymond D, Roos E, Orbe-Reilly M, Gurevich T, Bar Shira A, Gana Weisz M, Yasinovsky K, Zalis M, Thaler A, Deik A, Barrett MJ, Cabassa J, Groves M, Hunt AL, Lubarr N, San Luciano M, Miravite J, Palmese C, Sachdev R, Sarva H, Severt L, Shanker V, Swan MC, Soto-Valencia J, Johannes B, Ortega R, Fahn S, Cote L, Waters C, Mazzoni P, Ford B, Louis E, Levy O, Rosado L, Ruiz D, Dorovski T, Pauciulo M, Nichols W, Orr-Urtreger A, Ozelius L, Clark L, Giladi N, Bressman S, Marder KS. Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations. Mov Disord. 2013;28(14):1966–71.
CAS PubMed Article Google Scholar
Alegre-Abarrategui J, Christian H, Lufino MM, Mutihac R, Venda LL, Ansorge O, Wade-Martins R. LRRK2 regulates autophagic activity and localizes to specific membrane microdomains in a novel human genomic reporter cellular model. Hum Mol Genet. 2009;18(21):4022–34.
CAS PubMed PubMed Central Article Google Scholar
Armstrong MJ, Okun MS. Diagnosis and treatment of Parkinson disease: a review. JAMA. 2020;323(6):548–60.
Bajpai B. High capacity vectors. In: Ravi I, Baunthiyal M, Saxena J, editors. Advances in Biotechnology. Berlin: Springer; 2014. p. 1–10.
Benamer HT, de Silva R. LRRK2 G2019S in the North African population: a review. Eur Neurol. 2010;63(6):321–5.
CAS PubMed Article Google Scholar
Bichler Z, Lim HC, Zeng L, Tan EK. Non-motor and motor features in LRRK2 transgenic mice. PLoS ONE. 2013;8(7):e70249.
CAS PubMed PubMed Central Article Google Scholar
Chang CR, Blackstone C. Dynamic regulation of mitochondrial fission through modification of the dynamin-related protein Drp1. Ann N Y Acad Sci. 2010;1201:34–9.
CAS PubMed PubMed Central Article Google Scholar
Chen ML, Wu RM. LRRK 2 gene mutations in the pathophysiology of the ROCO domain and therapeutic targets for Parkinson’s disease: a review. J Biomed Sci. 2018;25(1):52.
PubMed PubMed Central Article CAS Google Scholar
De Giorgio F, Maduro C, Fisher EMC, Acevedo-Arozena A. Transgenic and physiological mouse models give insights into different aspects of amyotrophic lateral sclerosis. Dis Model Mech. 2019;12(1):dmm037424.
PubMed PubMed Central Article CAS Google Scholar
Deng X, Dzamko N, Prescott A, Davies P, Liu Q, Yang Q, Lee J-D, Patricelli MP, Nomanbhoy TK, Alessi DR. Characterization of a selective inhibitor of the Parkinson’s disease kinase LRRK2. Nat Chem Biol. 2011;7(4):203–5.
CAS PubMed PubMed Central Article Google Scholar
Di Fonzo A, Rohe CF, Ferreira J, Chien HF, Vacca L, Stocchi F, Guedes L, Fabrizio E, Manfredi M, Vanacore N, Goldwurm S, Breedveld G, Sampaio C, Meco G, Barbosa E, Oostra BA, Bonifati V, Italian Parkinson Genetics N. A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson’s disease. Lancet. 2005;365(9457):412–5.
PubMed Article CAS Google Scholar
Dranka BP, Gifford A, McAllister D, Zielonka J, Joseph J, O’Hara CL, Stucky CL, Kanthasamy AG, Kalyanaraman B. A novel mitochondrially-targeted apocynin derivative prevents hyposmia and loss of motor function in the leucine-rich repeat kinase 2 (LRRK2(R1441G)) transgenic mouse model of Parkinson’s disease. Neurosci Lett. 2014;583:159–64.
CAS PubMed PubMed Central Article Google Scholar
Dzamko N, Deak M, Hentati F, Reith AD, Prescott AR, Alessi DR, Nichols RJ. Inhibition of LRRK2 kinase activity leads to dephosphorylation of Ser(910)/Ser(935), disruption of 14-3-3 binding and altered cytoplasmic localization. Biochem J. 2010;430(3):405–13.
CAS PubMed Article Google Scholar
Fan TS, Wu RM, Chen PL, Chen TF, Li HY, Lin YH, Chen CY, Chen ML, Tai CH, Lin HI, Lin CH. Clinical heterogeneity of LRRK2 p.I2012T mutation. Parkinsonism Relat Disord. 2016;33:36–43.
Gaig C, Marti MJ, Ezquerra M, Rey MJ, Cardozo A, Tolosa E. G2019S LRRK2 mutation causing Parkinson’s disease without Lewy bodies. J Neurol Neurosurg Psychiatry. 2007;78(6):626–8.
PubMed PubMed Central Article Google Scholar
Gao L, Gomez-Garre P, Diaz-Corrales FJ, Carrillo F, Carballo M, Palomino A, Diaz-Martin J, Mejias R, Vime PJ, Lopez-Barneo J, Mir P. Prevalence and clinical features of LRRK2 mutations in patients with Parkinson’s disease in southern Spain. Eur J Neurol. 2009;16(8):957–60.
CAS PubMed Article Google Scholar
Giasson BI, Covy JP, Bonini NM, Hurtig HI, Farrer MJ, Trojanowski JQ, Van Deerlin VM. Biochemical and pathological characterization of Lrrk2. Ann Neurol. 2006;59(2):315–22.
CAS PubMed Article Google Scholar
Gilks WP, Abou-Sleiman PM, Gandhi S, Jain S, Singleton A, Lees AJ, Shaw K, Bhatia KP, Bonifati V, Quinn NP, Lynch J, Healy DG, Holton JL, Revesz T, Wood NW. A common LRRK2 mutation in idiopathic Parkinson’s disease. Lancet. 2005;365(9457):415–6.
Goodwin LO, Splinter E, Davis TL, Urban R, He H, Braun RE, Chesler EJ, Kumar V, van Min M, Ndukum J, Philip VM, Reinholdt LG, Svenson K, White JK, Sasner M, Lutz C, Murray SA. Large-scale discovery of mouse transgenic integration sites reveals frequent structural variation and insertional mutagenesis. Genome Res. 2019;29(3):494–505.
CAS PubMed PubMed Central Article Google Scholar
Gorostidi A, Ruiz-Martinez J, Lopez de Munain A, Alzualde A, Marti Masso JF. LRRK2 G2019S and R1441G mutations associated with Parkinson’s disease are common in the Basque Country, but relative prevalence is determined by ethnicity. Neurogenetics. 2009;10(2):157–9.
CAS PubMed Article Google Scholar
Guiler W, Koehler A, Boykin C, Lu Q. Pharmacological modulators of small GTPases of rho family in neurodegenerative diseases. Front Cell Neurosci. 2021;15:661612.
CAS PubMed PubMed Central Article Google Scholar
Guo L, Gandhi PN, Wang W, Petersen RB, Wilson-Delfosse AL, Chen SG. The Parkinson’s disease-associated protein, leucine-rich repeat kinase 2 (LRRK2), is an authentic GTPase that stimulates kinase activity. Exp Cell Res. 2007;313(16):3658–70.
CAS PubMed PubMed Central Article Google Scholar
Healy DG, Falchi M, O’Sullivan SS, Bonifati V, Durr A, Bressman S, Brice A, Aasly J, Zabetian CP, Goldwurm S, Ferreira JJ, Tolosa E, Kay DM, Klein C, Williams DR, Marras C, Lang AE, Wszolek ZK, Berciano J, Schapira AH, Lynch T, Bhatia KP, Gasser T, Lees AJ, Wood NW, International L.C. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson’s disease: a case–control study. Lancet Neurol. 2008;7(7):583–90.
CAS PubMed PubMed Central Article Google Scholar
Hulihan MM, Ishihara-Paul L, Kachergus J, Warren L, Amouri R, Elango R, Prinjha RK, Upmanyu R, Kefi M, Zouari M, Sassi SB, Yahmed SB, El Euch-Fayeche G, Matthews PM, Middleton LT, Gibson RA, Hentati F, Farrer MJ. LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study. Lancet Neurol. 2008;7(7):591–4.
CAS PubMed Article Google Scholar
Ishihara L, Warren L, Gibson R, Amouri R, Lesage S, Durr A, Tazir M, Wszolek ZK, Uitti RJ, Nichols WC, Griffith A, Hattori N, Leppert D, Watts R, Zabetian CP, Foroud TM, Farrer MJ, Brice A, Middleton L, Hentati F. Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. Arch Neurol. 2006;63(9):1250–4.
Kachergus J, Mata IF, Hulihan M, Taylor JP, Lincoln S, Aasly J, Gibson JM, Ross OA, Lynch T, Wiley J, Payami H, Nutt J, Maraganore DM, Czyzewski K, Styczynska M, Wszolek ZK, Farrer MJ, Toft M. Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. Am J Hum Genet. 2005;76(4):672–80.
CAS PubMed PubMed Central Article Google Scholar
Khan NL, Jain S, Lynch JM, Pavese N, Abou-Sleiman P, Holton JL, Healy DG, Gilks WP, Sweeney MG, Ganguly M, Gibbons V, Gandhi S, Vaughan J, Eunson LH, Katzenschlager R, Gayton J, Lennox G, Revesz T, Nicholl D, Bhatia KP, Quinn N, Brooks D, Lees AJ, Davis MB, Piccini P, Singleton AB, Wood NW. Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson’s disease: clinical, pathological, olfactory and functional imaging and genetic data. Brain. 2005;128(Pt 12):2786–96.
Lewis PA, Greggio E, Beilina A, Jain S, Baker A, Cookson MR. The R1441C mutation of LRRK2 disrupts GTP hydrolysis. Biochem Biophys Res Commun. 2007;357(3):668–71.
CAS PubMed PubMed Central Article Google Scholar
Li JQ, Tan L, Yu JT. The role of the LRRK2 gene in Parkinsonism. Mol Neurodegener. 2014;9:47.
CAS PubMed PubMed Central Article Google Scholar
Li X, Patel JC, Wang J, Avshalumov MV, Nicholson C, Buxbaum JD, Elder GA, Rice ME, Yue Z. Enhanced striatal dopamine transmission and motor performance with LRRK2 overexpression in mice is eliminated by familial Parkinson’s disease mutation G2019S. J Neurosci. 2010;30(5):1788–97.
CAS PubMed PubMed Central Article Google Scholar
Li X, Tan YC, Poulose S, Olanow CW, Huang XY, Yue Z. Leucine-rich repeat kinase 2 (LRRK2)/PARK8 possesses GTPase activity that is altered in familial Parkinson’s disease R1441C/G mutants. J Neurochem. 2007;103(1):238–47.
CAS PubMed PubMed Central Google Scholar
Li Y, Liu W, Oo TF, Wang L, Tang Y, Jackson-Lewis V, Zhou C, Geghman K, Bogdanov M, Przedborski S, Beal MF, Burke RE, Li C. Mutant LRRK2(R1441G) BAC transgenic mice recapitulate cardinal features of Parkinson’s disease. Nat Neurosci. 2009;12(7):826–8.
留言 (0)