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Volumn 11, Issue 3, 2010, Pages 305-312

Analysis of exon dosage using MLPA in South African Parkinson's disease patients

Author keywords

A Synuclein triplication; Exon dosage; MLPA; Parkin; Parkinson's disease; PINK1 Y258X

Indexed keywords

ALPHA SYNUCLEIN; DJ 1 PROTEIN; LEUCINE RICH REPEAT KINASE 2; PARKIN; UBIQUITIN PROTEIN LIGASE;

EID: 77954660828     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-009-0229-6     Document Type: Article
Times cited : (39)

References (40)
  • 1
    • 63149090431 scopus 로고    scopus 로고
    • Parkinson's disease: From monogenic forms to genetic susceptibility factors
    • Lesage S, Brice A (2009) Parkinson's disease: from monogenic forms to genetic susceptibility factors. Hum Mol Genet 18(R1): R48-R59
    • (2009) Hum Mol Genet , vol.18 , Issue.1
    • Lesage, S.1    Brice, A.2
  • 3
    • 0035421416 scopus 로고    scopus 로고
    • The importance of gene dosage studies: Mutational analysis of the parkin gene in early-onset parkinsonism
    • Hedrich K, Kann M, Lanthaler AJ, Dalski A, Eskelson C, Landt O et al (2001) The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 10(16):1649-1656
    • (2001) Hum Mol Genet , vol.10 , Issue.16 , pp. 1649-1656
    • Hedrich, K.1    Kann, M.2    Lanthaler, A.J.3    Dalski, A.4    Eskelson, C.5    Landt, O.6
  • 4
    • 0037161261 scopus 로고    scopus 로고
    • Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations
    • Hedrich K, Marder K, Harris J, Kann M, Lynch T, Meija-Santana H et al (2002) Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology 58(8):1239-1246
    • (2002) Neurology , vol.58 , Issue.8 , pp. 1239-1246
    • Hedrich, K.1    Marder, K.2    Harris, J.3    Kann, M.4    Lynch, T.5    Meija-Santana, H.6
  • 6
    • 0037648357 scopus 로고    scopus 로고
    • French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Parkin mutations are frequent in patients with isolated early-onset parkinsonism
    • Periquet M, Latouche M, Lohmann E, Rawal N, De Michele G, Ricard S (2003) French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain 126(Pt 6):1271-1278
    • (2003) Brain , vol.126 , Issue.PART 6 , pp. 1271-1278
    • Periquet, M.1    Latouche, M.2    Lohmann, E.3    Rawal, N.4    De Michele, G.5    Ricard, S.6
  • 8
    • 33745091901 scopus 로고    scopus 로고
    • Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: The GenePD study
    • Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA et al (2006) Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol 63(6):826-832
    • (2006) Arch Neurol , vol.63 , Issue.6 , pp. 826-832
    • Sun, M.1    Latourelle, J.C.2    Wooten, G.F.3    Lew, M.F.4    Klein, C.5    Shill, H.A.6
  • 9
    • 4644290985 scopus 로고    scopus 로고
    • Alpha-synuclein locus duplication as a cause of familial Parkinson's disease
    • Chartier-Harlin MC, Kachergus J, Roumier C, Mouroux V, Douay X, Lincoln S et al (2004) Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 364(9440):1167-1169
    • (2004) Lancet , vol.364 , Issue.9440 , pp. 1167-1169
    • Chartier-Harlin, M.C.1    Kachergus, J.2    Roumier, C.3    Mouroux, V.4    Douay, X.5    Lincoln, S.6
  • 10
    • 4644236043 scopus 로고    scopus 로고
    • Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease
    • Ibáñez P, Bonnet AM, Débarges B, Lohmann E, Tison F, Pollak P et al (2004) Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet 364 (9440):1169-1171
    • (2004) Lancet , vol.364 , Issue.9440 , pp. 1169-1171
    • Ibáñez, P.1    Bonnet, A.M.2    Débarges, B.3    Lohmann, E.4    Tison, F.5    Pollak, P.6
  • 14
    • 4444331146 scopus 로고    scopus 로고
    • Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients
    • Djarmati A, Hedrich K, Svetel M, Schäfer N, Juric V, Vukosavic S et al (2004) Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients. Hum Mutat 23 (5):525
    • (2004) Hum Mutat , vol.23 , Issue.5 , pp. 525
    • Djarmati, A.1    Hedrich, K.2    Svetel, M.3    Schäfer, N.4    Juric, V.5    Vukosavic, S.6
  • 15
    • 35349022051 scopus 로고    scopus 로고
    • Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification
    • Djarmati A, Guzvic M, Grünewald A, Lang AE, Pramstaller PP, Simon DK et al (2007) Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification. Mov Disord 22(12):1708-1714
    • (2007) Mov Disord , vol.22 , Issue.12 , pp. 1708-1714
    • Djarmati, A.1    Guzvic, M.2    Grünewald, A.3    Lang, A.E.4    Pramstaller, P.P.5    Simon, D.K.6
  • 16
    • 38049002518 scopus 로고    scopus 로고
    • Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements
    • Scarciolla O, Brancati F, Valente EM, Ferraris A, De Angelis MV, Valbonesi S et al (2007) Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements. Mov Disord 22(15):2274-2278
    • (2007) Mov Disord , vol.22 , Issue.15 , pp. 2274-2278
    • Scarciolla, O.1    Brancati, F.2    Valente, E.M.3    Ferraris, A.4    De Angelis, M.V.5    Valbonesi, S.6
  • 17
    • 0023784368 scopus 로고
    • A comparison of clinical and pathological features of young-onset and old-onset Parkinson's disease
    • Gibb WRG, Lees AJ (1988) A comparison of clinical and pathological features of young-onset and old-onset Parkinson's disease. Neurology 38(9):1402-1406
    • (1988) Neurology , vol.38 , Issue.9 , pp. 1402-1406
    • Gibb, W.R.G.1    Lees, A.J.2
  • 18
    • 58349114656 scopus 로고    scopus 로고
    • Molecular analysis of the parkin gene in South African patients diagnosed with Parkinson's disease
    • Bardien S, Keyser RJ, Yako Y, Lombard D, Carr J (2009) Molecular analysis of the parkin gene in South African patients diagnosed with Parkinson's disease. Parkinsonism Relat Disord 15 (2):116-121
    • (2009) Parkinsonism Relat Disord , vol.15 , Issue.2 , pp. 116-121
    • Bardien, S.1    Keyser, R.J.2    Yako, Y.3    Lombard, D.4    Carr, J.5
  • 19
    • 7244261867 scopus 로고    scopus 로고
    • Distribution, type, and origin of Parkin mutations: Review and case studies
    • Hedrich K, Eskelson C, Wilmot B, Marder K, Harris J, Garrels J et al (2004) Distribution, type, and origin of Parkin mutations: review and case studies. Mov Disord 19(10):1146-1157
    • (2004) Mov Disord , vol.19 , Issue.10 , pp. 1146-1157
    • Hedrich, K.1    Eskelson, C.2    Wilmot, B.3    Marder, K.4    Harris, J.5    Garrels, J.6
  • 20
    • 0025167556 scopus 로고
    • Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region
    • Ballabio A, Bardoni B, Guioli S, Basler E, Camerino G (1990) Two families of low-copy-number repeats are interspersed on Xp22.3: implications for the high frequency of deletions in this region. Genomics 8(2):263-270
    • (1990) Genomics , vol.8 , Issue.2 , pp. 263-270
    • Ballabio, A.1    Bardoni, B.2    Guioli, S.3    Basler, E.4    Camerino, G.5
  • 21
    • 0030881588 scopus 로고    scopus 로고
    • Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
    • Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, Lupski JR (1997) Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 17(2):154-163
    • (1997) Nat Genet , vol.17 , Issue.2 , pp. 154-163
    • Chen, K.S.1    Manian, P.2    Koeuth, T.3    Potocki, L.4    Zhao, Q.5    Chinault, A.C.6    Lee, C.C.7    Lupski, J.R.8
  • 22
    • 0025280088 scopus 로고
    • Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements
    • Yen PH, Li XM, Tsai SP, Johnson C, Mohandas T, Shapiro LJ (1990) Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements. Cell 61(4):603-610
    • (1990) Cell , vol.61 , Issue.4 , pp. 603-610
    • Yen, P.H.1    Li, X.M.2    Tsai, S.P.3    Johnson, C.4    Mohandas, T.5    Shapiro, L.J.6
  • 23
    • 33749043929 scopus 로고    scopus 로고
    • Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders
    • Lee JA, Lupski JR et al (2006) Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 52(1):103-121
    • (2006) Neuron , vol.52 , Issue.1 , pp. 103-121
    • Lee, J.A.1    Lupski, J.R.2
  • 24
    • 18244412384 scopus 로고    scopus 로고
    • Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the Parkin gene in affected individuals
    • Hattori N, Kitada T, Matsumine H, Asakawa S, Yamamura Y, Yoshino H et al (1998) Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the Parkin gene in affected individuals. Ann Neurol 44 (6):935-941
    • (1998) Ann Neurol , vol.44 , Issue.6 , pp. 935-941
    • Hattori, N.1    Kitada, T.2    Matsumine, H.3    Asakawa, S.4    Yamamura, Y.5    Yoshino, H.6
  • 25
    • 34250372427 scopus 로고    scopus 로고
    • Deciphering the role of heterozygous mutations in genes associated with parkinsonism
    • Klein C, Lohmann-Hedrich K, Rogaeva E, Schlossmacher MG, Lang AE (2007) Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol 6(7):652-662
    • (2007) Lancet Neurol , vol.6 , Issue.7 , pp. 652-662
    • Klein, C.1    Lohmann-Hedrich, K.2    Rogaeva, E.3    Schlossmacher, M.G.4    Lang, A.E.5
  • 26
    • 67549146854 scopus 로고    scopus 로고
    • Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective followup examination of mutation carriers
    • Brüggemann N, Mitterer M, Lanthaler AJ, Djarmati A, Hagenah J, Wiegers K et al (2009) Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective followup examination of mutation carriers. Parkinsonism Relat Disord 15(6):425-429
    • (2009) Parkinsonism Relat Disord , vol.15 , Issue.6 , pp. 425-429
    • Brüggemann, N.1    Mitterer, M.2    Lanthaler, A.J.3    Djarmati, A.4    Hagenah, J.5    Wiegers, K.6
  • 27
    • 10744227740 scopus 로고    scopus 로고
    • Comparison of kindreds with parkinsonism and alphasynuclein genomic multiplications
    • Farrer M, Kachergus J, Forno L, Lincoln S, Wang DS, Hulihan M (2004) Comparison of kindreds with parkinsonism and alphasynuclein genomic multiplications. Ann Neurol 55(2):174-179
    • (2004) Ann Neurol , vol.55 , Issue.2 , pp. 174-179
    • Farrer, M.1    Kachergus, J.2    Forno, L.3    Lincoln, S.4    Wang, D.S.5    Hulihan, M.6
  • 28
    • 58449106639 scopus 로고    scopus 로고
    • Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms
    • Ibáñez P, Lesage S, Janin S, Lohmann E, Durif F, Destée A et al (2009) Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms. Arch Neurol 66(1):102-108
    • (2009) Arch Neurol , vol.66 , Issue.1 , pp. 102-108
    • Ibáñez, P.1    Lesage, S.2    Janin, S.3    Lohmann, E.4    Durif, F.5    Destée, A.6
  • 29
    • 0034077041 scopus 로고    scopus 로고
    • Mice lacking alpha-synuclein display functional deficits in the nigrostriatal dopamine system
    • Abeliovich A, Schmitz Y, Fariñas I, Choi-Lundberg D, Ho WH, Castillo PE et al (2000) Mice lacking alpha-synuclein display functional deficits in the nigrostriatal dopamine system. Neuron 25(1):239-252
    • (2000) Neuron , vol.25 , Issue.1 , pp. 239-252
    • Abeliovich, A.1    Schmitz, Y.2    Fariñas, I.3    Choi-Lundberg, D.4    Ho, W.H.5    Castillo, P.E.6
  • 30
    • 10944243102 scopus 로고    scopus 로고
    • Role of alphasynuclein in presynaptic dopamine recruitment
    • Yavich L, Tanila H, Vepsäläinen S, Jäkälä P (2004) Role of alphasynuclein in presynaptic dopamine recruitment. J Neurosci 24 (49):11165-11170
    • (2004) J Neurosci , vol.24 , Issue.49 , pp. 11165-11170
    • Yavich, L.1    Tanila, H.2    Vepsäläinen, S.3    Jäkälä, P.4
  • 31
    • 33745845523 scopus 로고    scopus 로고
    • PINK1 mutations in sporadic early-onset Parkinson's disease
    • Tan EK, Yew K, Chua E, Puvan K, Shen H, Lee E et al (2006) PINK1 mutations in sporadic early-onset Parkinson's disease. Mov Disord 21(6):789-793
    • (2006) Mov Disord , vol.21 , Issue.6 , pp. 789-793
    • Tan, E.K.1    Yew, K.2    Chua, E.3    Puvan, K.4    Shen, H.5    Lee, E.6
  • 33
    • 33745589773 scopus 로고    scopus 로고
    • Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin
    • Clark IE, Dodson MW, Jiang C, Cao JH, Huh JR, Seol JH et al (2006) Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin. Nature 441(7097):1162-1166
    • (2006) Nature , vol.441 , Issue.7097 , pp. 1162-1166
    • Clark, I.E.1    Dodson, M.W.2    Jiang, C.3    Cao, J.H.4    Huh, J.R.5    Seol, J.H.6
  • 34
    • 33745602748 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin
    • Park J, Lee SB, Lee S, Kim Y, Song S, Kim S et al (2006) Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin. Nature 441(7097):1157-1161
    • (2006) Nature , vol.441 , Issue.7097 , pp. 1157-1161
    • Park, J.1    Lee, S.B.2    Lee, S.3    Kim, Y.4    Song, S.5    Kim, S.6
  • 35
    • 26644440926 scopus 로고    scopus 로고
    • Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson diseaserelated mutations
    • Petit A, Kawarai T, Paitel E, Sanjo N, Maj M, Scheid M et al (2005) Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson diseaserelated mutations. J Biol Chem 280(40):34025-34032
    • (2005) J Biol Chem , vol.280 , Issue.40 , pp. 34025-34032
    • Petit, A.1    Kawarai, T.2    Paitel, E.3    Sanjo, N.4    Maj, M.5    Scheid, M.6
  • 36
  • 37
    • 22044432781 scopus 로고    scopus 로고
    • Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes
    • Bonifati V, Rohé CF, Breedveld GJ, Fabrizio E, De Mari M, Tassorelli C et al (2005) Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology 65(1):87-95
    • (2005) Neurology , vol.65 , Issue.1 , pp. 87-95
    • Bonifati, V.1    Rohé, C.F.2    Breedveld, G.J.3    Fabrizio, E.4    De Mari, M.5    Tassorelli, C.6
  • 39
    • 10044275502 scopus 로고    scopus 로고
    • Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease
    • Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T et al (2004) Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Arch Neurol 61(12):1898-1904
    • (2004) Arch Neurol , vol.61 , Issue.12 , pp. 1898-1904
    • Rogaeva, E.1    Johnson, J.2    Lang, A.E.3    Gulick, C.4    Gwinn-Hardy, K.5    Kawarai, T.6
  • 40
    • 34247185238 scopus 로고    scopus 로고
    • Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations
    • Ephraty L, Porat O, Israeli D, Cohen OS, Tunkel O, Yael S, Hatano Y et al (2007) Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations. Mov Disord 15;22(4):566-569.
    • (2007) Mov Disord 15 , vol.22 , Issue.4 , pp. 566-569
    • Ephraty, L.1    Porat, O.2    Israeli, D.3    Cohen, O.S.4    Tunkel, O.5    Yael, S.6    Hatano, Y.7


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