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Volumn 15, Issue 1, 2014, Pages 49-57

Rare variants in LRRK1 and Parkinson's disease

(22)  Schulte, Eva C a,b   Ellwanger, Daniel C c   Dihanich, Sybille d   Manzoni, Claudia d   Stangl, Katrin e   Schormair, Barbara b,c   Graf, Elisabeth b   Eck, Sebastian b   Mollenhauer, Brit f,g   Haubenberger, Dietrich h   Pirker, Walter h   Zimprich, Alexander h   Brücke, Thomas i   Lichtner, Peter b,c   Peters, Annette b   Gieger, Christian b   Trenkwalder, Claudia f,g   Mewes, Hans Werner c   Meitinger, Thomas b,c,j   Lewis, Patrick A d,k   more..


Author keywords

EEF1D; Exome sequencing; LRRK1; Parkinson's disease

Indexed keywords

ADULT; AGED; ARTICLE; BIOINFORMATICS; CELL VIABILITY; CELLULAR DISTRIBUTION; CONTROLLED STUDY; EEF1D GENE; EXOME; FAMILY STUDY; FEMALE; GENE; GENE FREQUENCY; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; LRRK1 GENE; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PARKINSON DISEASE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEGREGATION ANALYSIS;

EID: 84897954643     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-013-0383-8     Document Type: Article
Times cited : (21)

References (35)
  • 1
    • 0028060492 scopus 로고
    • Increased risk of Parkinson's disease in parents and siblings of patients
    • 7605419 10.1002/ana.410360417
    • Payami H, Larsen K, Bernard S, Nutt J (1994) Increased risk of Parkinson's disease in parents and siblings of patients. Ann Neurol 36:659-661
    • (1994) Ann Neurol , vol.36 , pp. 659-661
    • Payami, H.1    Larsen, K.2    Bernard, S.3    Nutt, J.4
  • 3
    • 8844233579 scopus 로고    scopus 로고
    • Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
    • 15541309 10.1016/j.neuron.2004.11.005
    • Zimprich A, Biskup S, Leitner P et al (2004) Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 44:601-607
    • (2004) Neuron , vol.44 , pp. 601-607
    • Zimprich, A.1    Biskup, S.2    Leitner, P.3
  • 4
    • 0037428241 scopus 로고    scopus 로고
    • Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
    • 12446870 10.1126/science.1077209
    • Bonifati V, Rizzu P, van Baren MJ et al (2003) Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299:256-259
    • (2003) Science , vol.299 , pp. 256-259
    • Bonifati, V.1    Rizzu, P.2    Van Baren, M.J.3
  • 5
    • 0032499264 scopus 로고    scopus 로고
    • Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
    • 9560156 10.1038/33416
    • Kitada T, Asakawa S, Hattori N et al (1998) Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392:605-608
    • (1998) Nature , vol.392 , pp. 605-608
    • Kitada, T.1    Asakawa, S.2    Hattori, N.3
  • 6
    • 8844266996 scopus 로고    scopus 로고
    • Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
    • 15541308 10.1016/j.neuron.2004.10.023
    • Paisan-Ruiz C, Jain S, Evans EW et al (2004) Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 44:595-600
    • (2004) Neuron , vol.44 , pp. 595-600
    • Paisan-Ruiz, C.1    Jain, S.2    Evans, E.W.3
  • 7
    • 0030744876 scopus 로고    scopus 로고
    • Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
    • 9197268 10.1126/science.276.5321.2045
    • Polymeropoulos MH, Lavedan C, Leroy E et al (1997) Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276:2045-2047
    • (1997) Science , vol.276 , pp. 2045-2047
    • Polymeropoulos, M.H.1    Lavedan, C.2    Leroy, E.3
  • 8
    • 2442668926 scopus 로고    scopus 로고
    • Hereditary early-onset Parkinson's disease caused by mutations in PINK1
    • 15087508 10.1126/science.1096284
    • Valente EM, Abou-Sleiman PM, Caputo V et al (2004) Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304:1158-1160
    • (2004) Science , vol.304 , pp. 1158-1160
    • Valente, E.M.1    Abou-Sleiman, P.M.2    Caputo, V.3
  • 9
    • 80051534540 scopus 로고    scopus 로고
    • A Mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease
    • 3135812 21763483 10.1016/j.ajhg.2011.06.008
    • Zimprich A, Benet-Pages A, Struhal W et al (2011) A Mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet 89:168-175
    • (2011) Am J Hum Genet , vol.89 , pp. 168-175
    • Zimprich, A.1    Benet-Pages, A.2    Struhal, W.3
  • 10
    • 80051488602 scopus 로고    scopus 로고
    • VPS35 mutations in Parkinson disease
    • 3135796 21763482 10.1016/j.ajhg.2011.06.001
    • Vilarino-Güell C, Wider C, Ross OA et al (2011) VPS35 mutations in Parkinson disease. Am J Hum Genet 89:162-167
    • (2011) Am J Hum Genet , vol.89 , pp. 162-167
    • Vilarino-Güell, C.1    Wider, C.2    Ross, O.A.3
  • 11
    • 23844472247 scopus 로고    scopus 로고
    • KORAgen - Resource for population genetics, controls and a broad spectrum of disease phenotypes
    • Wichmann HE, Gieger C, Illig T (2004) KORAgen - resource for population genetics, controls and a broad spectrum of disease phenotypes. Gesundheitswesen 67(Suppl 1):26-30
    • (2004) Gesundheitswesen. , vol.67 , Issue.SUPPL. 1 , pp. 26-30
    • Wichmann, H.E.1    Gieger, C.2    Illig, T.3
  • 12
    • 32244443107 scopus 로고    scopus 로고
    • LRRK1 protein kinase activity is stimulated upon binding of GTP to its Roc domain
    • 16243488 10.1016/j.cellsig.2005.08.015
    • Korr D, Toschi L, Donner P, Pohlenz HD, Kreft B, Weiss B (2006) LRRK1 protein kinase activity is stimulated upon binding of GTP to its Roc domain. Cell Signal 18:910-920
    • (2006) Cell Signal , vol.18 , pp. 910-920
    • Korr, D.1    Toschi, L.2    Donner, P.3    Pohlenz, H.D.4    Kreft, B.5    Weiss, B.6
  • 13
    • 21644440363 scopus 로고    scopus 로고
    • Approximately unbiased tests of regions using multistep-multiscale bootstrap resampling
    • 10.1214/009053604000000823
    • Shimodaira H (2004) Approximately unbiased tests of regions using multistep-multiscale bootstrap resampling. Ann Statistics 32:2616-2641
    • (2004) Ann Statistics. , vol.32 , pp. 2616-2641
    • Shimodaira, H.1
  • 14
    • 34250192244 scopus 로고    scopus 로고
    • Mutations in LRRK2/dardarin associated with Parkinson disease are more toxic than equivalent mutations in the homologous kinase LRRK1
    • 17394548 10.1111/j.1471-4159.2007.04523.x
    • Greggio E, Lewis PA, van der Brug MP et al (2007) Mutations in LRRK2/dardarin associated with Parkinson disease are more toxic than equivalent mutations in the homologous kinase LRRK1. J Neurochem 102:93-102
    • (2007) J Neurochem , vol.102 , pp. 93-102
    • Greggio, E.1    Lewis, P.A.2    Van Der Brug, M.P.3
  • 15
    • 0036137526 scopus 로고    scopus 로고
    • Risk tables for parkinsonism and Parkinson's disease
    • 11781119 10.1016/S0895-4356(01)00425-5
    • Elbaz A, Bower JH, Maraganore DM et al (2002) Risk tables for parkinsonism and Parkinson's disease. J Clin Epidemiol 55:25-31
    • (2002) J Clin Epidemiol , vol.55 , pp. 25-31
    • Elbaz, A.1    Bower, J.H.2    Maraganore, D.M.3
  • 16
    • 80052780004 scopus 로고    scopus 로고
    • Translation initiator EIF4G1 mutations in familial Parkinson disease
    • 3169825 21907011 10.1016/j.ajhg.2011.08.009
    • Chartier-Harlin MC, Dachsel JC, Vilarino-Guell C et al (2011) Translation initiator EIF4G1 mutations in familial Parkinson disease. Am J Hum Genet 89:398-406
    • (2011) Am J Hum Genet , vol.89 , pp. 398-406
    • Chartier-Harlin, M.C.1    Dachsel, J.C.2    Vilarino-Guell, C.3
  • 17
    • 77955152366 scopus 로고    scopus 로고
    • Pathogenic LRRK2 negatively regulates microRNA-mediated translational repression
    • 3049892 20671708 10.1038/nature09191
    • Gehrke S, Imai Y, Sokol N, Lu B (2010) Pathogenic LRRK2 negatively regulates microRNA-mediated translational repression. Nature 466:637-641
    • (2010) Nature , vol.466 , pp. 637-641
    • Gehrke, S.1    Imai, Y.2    Sokol, N.3    Lu, B.4
  • 18
    • 78751627951 scopus 로고    scopus 로고
    • Leucine-rich repeat kinase LRRK1 regulates endosomal trafficking of the EGF receptor
    • 10.1038/ncomms1161
    • Hanafusa H, Ishikawa K, Kedashiro S et al (2011) Leucine-rich repeat kinase LRRK1 regulates endosomal trafficking of the EGF receptor. Nat Comm 2:158
    • (2011) Nat Comm. , vol.2 , pp. 158
    • Hanafusa, H.1    Ishikawa, K.2    Kedashiro, S.3
  • 19
    • 70350319531 scopus 로고    scopus 로고
    • Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
    • 2856322 19846850 10.1056/NEJMoa0901281
    • Sidransky E, Nalls MA, Aasly JO et al (2009) Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med 361:1651-1661
    • (2009) N Engl J Med , vol.361 , pp. 1651-1661
    • Sidransky, E.1    Nalls, M.A.2    Aasly, J.O.3
  • 20
    • 77953090478 scopus 로고    scopus 로고
    • Loss of leucine-rich repeat kinase 2 causes impairment of protein degradation pathways, accumulation of alpha-synuclein, and apoptotic cell death in aged mice
    • 2906862 20457918 10.1073/pnas.1004676107
    • Tong Y, Yamaguchi H, Giaime E et al (2010) Loss of leucine-rich repeat kinase 2 causes impairment of protein degradation pathways, accumulation of alpha-synuclein, and apoptotic cell death in aged mice. Proc Natl Acad Sci U S A 107:9879-9884
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 9879-9884
    • Tong, Y.1    Yamaguchi, H.2    Giaime, E.3
  • 21
    • 77950026780 scopus 로고    scopus 로고
    • Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease
    • 10.1016/j.mad.2010.01.009
    • Dachsel JC, Nishioka K, Vilarino-Güell C et al (2010) Heterodimerization of Lrrk1-Lrrk2: implications for LRRK2-associated Parkinson disease. Mech Age Dev 131:210-214
    • (2010) Mech Age Dev. , vol.131 , pp. 210-214
    • Dachsel, J.C.1    Nishioka, K.2    Vilarino-Güell, C.3
  • 22
    • 70349929185 scopus 로고    scopus 로고
    • Homo- and heterodimerization of ROCO kinases: LRRK2 kinase inhibition by the LRRK2 ROCO fragment
    • 19712061 10.1111/j.1471-4159.2009.06358.x
    • Klein CL, Rovelli G, Springer W, Schall C, Gasser T, Kahle PJ (2009) Homo- and heterodimerization of ROCO kinases: LRRK2 kinase inhibition by the LRRK2 ROCO fragment. J Neurochem 111:703-715
    • (2009) J Neurochem , vol.111 , pp. 703-715
    • Klein, C.L.1    Rovelli, G.2    Springer, W.3    Schall, C.4    Gasser, T.5    Kahle, P.J.6
  • 23
    • 79952918505 scopus 로고    scopus 로고
    • Characterization of a selective inhibitor of the Parkinson's disease kinase LRRK2
    • 3287420 21378983 10.1038/nchembio.538
    • Deng X, Dzamko N, Prescott A et al (2011) Characterization of a selective inhibitor of the Parkinson's disease kinase LRRK2. Nat Chem Biol 7:203-205
    • (2011) Nat Chem Biol , vol.7 , pp. 203-205
    • Deng, X.1    Dzamko, N.2    Prescott, A.3
  • 24
    • 84865583070 scopus 로고    scopus 로고
    • Biochemical characterization of highly purified leucine-rich repeat kinases 1 and 2 demonstrates formation of homodimers
    • 3430690 22952686 10.1371/journal.pone.0043472
    • Civiero L, Vancraenenbroeck R, Belluzzi E et al (2012) Biochemical characterization of highly purified leucine-rich repeat kinases 1 and 2 demonstrates formation of homodimers. PLoS One 7:e43472
    • (2012) PLoS One , vol.7 , pp. 43472
    • Civiero, L.1    Vancraenenbroeck, R.2    Belluzzi, E.3
  • 25
    • 84863556835 scopus 로고    scopus 로고
    • Evolution and functional impact of rare coding variation from deep sequencing of human exomes
    • 3708544 22604720 10.1126/science.1219240
    • Tennessen JA, Bigham AW, O'Connor T et al (2012) Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 337:64-69
    • (2012) Science , vol.337 , pp. 64-69
    • Tennessen, J.A.1    Bigham, A.W.2    O'Connor, T.3
  • 26
    • 50049104725 scopus 로고    scopus 로고
    • Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: A case-control study
    • 2832754 18539534 10.1016/S1474-4422(08)70117-0
    • Healy DG, Falchi M, O'Sullivan SS et al (2008) Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol 7:583-590
    • (2008) Lancet Neurol , vol.7 , pp. 583-590
    • Healy, D.G.1    Falchi, M.2    O'Sullivan, S.S.3
  • 27
    • 51349153846 scopus 로고    scopus 로고
    • The Roco protein family: A functional perspective
    • 10.1096/fj.08-111310
    • Marin I, van Egmond WN, van Haastert PJM (2008) The Roco protein family: a functional perspective. FASEB 22:3103-3110
    • (2008) FASEB. , vol.22 , pp. 3103-3110
    • Marin, I.1    Van Egmond, W.N.2    Van Haastert, P.J.M.3
  • 28
    • 65549149576 scopus 로고    scopus 로고
    • Multiple genes on chromosome 7 regulate dopaminergic amacrine cell number in the mouse retina
    • 2672967 19168892 10.1167/iovs.08-2556
    • Whitney IE, Raven MA, Ciobanu DC, Williams RW, Reese BE (2009) Multiple genes on chromosome 7 regulate dopaminergic amacrine cell number in the mouse retina. Invest Ophthal Vis Sci 50:1996-2003
    • (2009) Invest Ophthal Vis Sci. , vol.50 , pp. 1996-2003
    • Whitney, I.E.1    Raven, M.A.2    Ciobanu, D.C.3    Williams, R.W.4    Reese, B.E.5
  • 29
    • 84859415103 scopus 로고    scopus 로고
    • EGFR-dependent phosphorylation of leucine-rich repeat kinase LRRK1 is important for proper endosomal trafficking of EGFR
    • 3315817 22337768 10.1091/mbc.E11-09-0780
    • Ishikawa K, Nara A, Matsumoto K, Hanafusa H (2012) EGFR-dependent phosphorylation of leucine-rich repeat kinase LRRK1 is important for proper endosomal trafficking of EGFR. Mol Biol Cell 23:1294-1306
    • (2012) Mol Biol Cell , vol.23 , pp. 1294-1306
    • Ishikawa, K.1    Nara, A.2    Matsumoto, K.3    Hanafusa, H.4
  • 30
    • 84862907943 scopus 로고    scopus 로고
    • Leucine-rich repeat kinase 2 regulates autophagy through a calcium-dependent pathway involving NAADP
    • 3259011 22012985 10.1093/hmg/ddr481
    • Gómez-Suaga P, Luzón-Toro B, Churamani D et al (2012) Leucine-rich repeat kinase 2 regulates autophagy through a calcium-dependent pathway involving NAADP. Hum Mol Genet 21:511-525
    • (2012) Hum Mol Genet , vol.21 , pp. 511-525
    • Gómez-Suaga, P.1    Luzón-Toro, B.2    Churamani, D.3
  • 31
    • 84863241584 scopus 로고    scopus 로고
    • Roles of the Drosophila LRRK2 homolog in Rab7-dependent lysosomal positioning
    • 3284123 22171073 10.1093/hmg/ddr573
    • Dodson MW, Zhang T, Jiang C, Chen S, Guo M (2012) Roles of the Drosophila LRRK2 homolog in Rab7-dependent lysosomal positioning. Hum Mol Genet 21:1350-1363
    • (2012) Hum Mol Genet , vol.21 , pp. 1350-1363
    • Dodson, M.W.1    Zhang, T.2    Jiang, C.3    Chen, S.4    Guo, M.5
  • 32
    • 33947585082 scopus 로고    scopus 로고
    • Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway
    • 17324517 10.1016/j.neulet.2007.02.020
    • Haugarvoll K, Toft M, Ross OA, White LR, Aasley JO, Farrer MJ (2007) Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway. Neurosci Lett 416:299-301
    • (2007) Neurosci Lett , vol.416 , pp. 299-301
    • Haugarvoll, K.1    Toft, M.2    Ross, O.A.3    White, L.R.4    Aasley, J.O.5    Farrer, M.J.6
  • 33
    • 79951474478 scopus 로고    scopus 로고
    • Common variants in PARK loci and related genes and Parkinson's disease
    • 3606822 21412835 10.1002/mds.23376
    • Chung SJ, Armasu SM, Biernacka JM et al (2011) Common variants in PARK loci and related genes and Parkinson's disease. Mov Disord 26:280-288
    • (2011) Mov Disord , vol.26 , pp. 280-288
    • Chung, S.J.1    Armasu, S.M.2    Biernacka, J.M.3
  • 34
    • 33847617975 scopus 로고    scopus 로고
    • Leucine-rich repeat kinase 1: A paralog of LRRK2 and a candidate gene for Parkinson's disease
    • 17225181 10.1007/s10048-006-0075-8
    • Taylor JP, Hulihan MM, Kachergus JM et al (2007) Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson's disease. Neurogenetics 8:95-102
    • (2007) Neurogenetics , vol.8 , pp. 95-102
    • Taylor, J.P.1    Hulihan, M.M.2    Kachergus, J.M.3
  • 35
    • 79952192021 scopus 로고    scopus 로고
    • TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
    • 3071301 21258341 10.1038/ng.756
    • Davis EE, Zhang Q, Liu Q et al (2011) TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet 43:189-196
    • (2011) Nat Genet , vol.43 , pp. 189-196
    • Davis, E.E.1    Zhang, Q.2    Liu, Q.3


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