메뉴 건너뛰기




Volumn 33, Issue 26, 2013, Pages 10790-10801

The impact of pathogenic mitochondrial DNA mutations on substantia nigra neurons

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; PORIN;

EID: 84879288527     PISSN: 02706474     EISSN: 15292401     Source Type: Journal    
DOI: 10.1523/JNEUROSCI.3525-12.2013     Document Type: Article
Times cited : (81)

References (56)
  • 1
    • 33644543761 scopus 로고    scopus 로고
    • Expanding insights of mitochondrial dysfunction in Parkinson's disease
    • CrossRef Medline
    • Abou-Sleiman PM, Muqit MM, Wood NW (2006) Expanding insights of mitochondrial dysfunction in Parkinson's disease. Nat Rev Neurosci 7:207-219. CrossRef Medline
    • (2006) Nat Rev Neurosci , vol.7 , pp. 207-219
    • Abou-Sleiman, P.M.1    Muqit, M.M.2    Wood, N.W.3
  • 7
    • 0001496694 scopus 로고
    • A primate model of parkinsonism: Selective destruction of dopaminergic neurons in the pars compacta of the substantia nigra by N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine
    • CrossRefMedline
    • Burns RS, Chiueh CC, Markey SP, Ebert MH, Jacobowitz DM, Kopin IJ (1983) A primate model of parkinsonism: selective destruction of dopaminergic neurons in the pars compacta of the substantia nigra by N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine. Proc Natl Acad Sci USA 80:4546-4550.CrossRefMedline
    • (1983) Proc Natl Acad Sci USA , vol.80 , pp. 4546-4550
    • Burns, R.S.1    Chiueh, C.C.2    Markey, S.P.3    Ebert, M.H.4    Jacobowitz, D.M.5    Kopin, I.J.6
  • 8
    • 80053438578 scopus 로고    scopus 로고
    • Modes of metabolic compensation during mitochondrial disease using the Drosophila model of ATP6 dysfunction
    • CrossRef Medline
    • Celotto AM, Chiu WK, Van Voorhies W, Palladino MJ (2011) Modes of metabolic compensation during mitochondrial disease using the Drosophila model of ATP6 dysfunction. PLoS One 6:e25823. CrossRef Medline
    • (2011) PLoS One , vol.6
    • Celotto, A.M.1    Chiu, W.K.2    van Voorhies, W.3    Palladino, M.J.4
  • 9
    • 34347359673 scopus 로고    scopus 로고
    • Surmeier DJ (2007) 'Rejuvenation' protects neurons in mouse models of Parkinson's disease
    • CrossRef Medline
    • Chan CS, Guzman JN, Ilijic E, Mercer JN, Rick C, Tkatch T, Meredith GE, Surmeier DJ (2007) 'Rejuvenation' protects neurons in mouse models of Parkinson's disease. Nature 447:1081-1086. CrossRef Medline
    • Nature , vol.447 , pp. 1081-1086
    • Chan, C.S.1    Guzman, J.N.2    Ilijic, E.3    Mercer, J.N.4    Rick, C.5    Tkatch, T.6    Meredith, G.E.7
  • 10
    • 65349159205 scopus 로고    scopus 로고
    • Calcium homeostasis, selective vulnerability and Parkinson's disease
    • CrossRef Medline
    • Chan CS, Gertler TS, Surmeier DJ (2009) Calcium homeostasis, selective vulnerability and Parkinson's disease. Trends Neurosci 32:249-256. CrossRef Medline
    • (2009) Trends Neurosci , vol.32 , pp. 249-256
    • Chan, C.S.1    Gertler, T.S.2    Surmeier, D.J.3
  • 12
    • 44049099669 scopus 로고    scopus 로고
    • Mitochondrial import and accumulation of alpha-synuclein impair complex I in human dopaminergic neuronal cultures and Parkinson disease brain
    • CrossRef Medline
    • Devi L, Raghavendran V, Prabhu BM, Avadhani NG, Anandatheerthavarada HK (2008) Mitochondrial import and accumulation of alpha-synuclein impair complex I in human dopaminergic neuronal cultures and Parkinson disease brain. J Biol Chem 283:9089-9100. CrossRef Medline
    • (2008) J Biol Chem , vol.283 , pp. 9089-9100
    • Devi, L.1    Raghavendran, V.2    Prabhu, B.M.3    Avadhani, N.G.4    Anandatheerthavarada, H.K.5
  • 14
    • 79959602140 scopus 로고    scopus 로고
    • Expression analysis of dopaminergic neurons in Parkinson's disease and aging links transcriptional dysregulation of energy metabolism to cell death
    • CrossRef Medline
    • Elstner M, Morris CM, Heim K, Bender A, Mehta D, Jaros E, Klopstock T, Meitinger T, Turnbull DM, Prokisch H (2011) Expression analysis of dopaminergic neurons in Parkinson's disease and aging links transcriptional dysregulation of energy metabolism to cell death. Acta Neuropathol 122:75-86. CrossRef Medline
    • (2011) Acta Neuropathol , vol.122 , pp. 75-86
    • Elstner, M.1    Morris, C.M.2    Heim, K.3    Bender, A.4    Mehta, D.5    Jaros, E.6    Klopstock, T.7    Meitinger, T.8    Turnbull, D.M.9    Prokisch, H.10
  • 15
    • 0025954066 scopus 로고
    • Ageing and Parkinson's disease: Substantia nigra regional selectivity
    • CrossRef Medline
    • Fearnley JM, Lees AJ (1991) Ageing and Parkinson's disease: substantia nigra regional selectivity. Brain 114:2283-2301. CrossRef Medline
    • (1991) Brain , vol.114 , pp. 2283-2301
    • Fearnley, J.M.1    Lees, A.J.2
  • 17
    • 0031859395 scopus 로고    scopus 로고
    • Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease
    • CrossRef Medline
    • Gu M, Cooper JM, Taanman JW, Schapira AH (1998) Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease. Ann Neurol 44:177-186. CrossRef Medline
    • (1998) Ann Neurol , vol.44 , pp. 177-186
    • Gu, M.1    Cooper, J.M.2    Taanman, J.W.3    Schapira, A.H.4
  • 18
    • 33749001168 scopus 로고    scopus 로고
    • Mitochondrial DNA polymerase-gamma and human disease
    • CrossRef Medline
    • Hudson G, Chinnery PF (2006) Mitochondrial DNA polymerase-gamma and human disease. Hum Mol Genet 15: R244-R252. CrossRef Medline
    • (2006) Hum Mol Genet , vol.15
    • Hudson, G.1    Chinnery, P.F.2
  • 20
    • 45449101303 scopus 로고    scopus 로고
    • Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism
    • CrossRef Medline
    • Invernizzi F, Varanese S, Thomas A, Carrara F, Onofrj M, Zeviani M (2008) Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism. Neuromuscul Disord 18:460-464. CrossRef Medline
    • (2008) Neuromuscul Disord , vol.18 , pp. 460-464
    • Invernizzi, F.1    Varanese, S.2    Thomas, A.3    Carrara, F.4    Onofrj, M.5    Zeviani, M.6
  • 21
    • 33646351299 scopus 로고    scopus 로고
    • Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons
    • CrossRef Medline
    • Kraytsberg Y, Kudryavtseva E, McKee AC, Geula C, Kowall NW, Khrapko K (2006) Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons. Nat Genet 38:518-520. CrossRef Medline
    • (2006) Nat Genet , vol.38 , pp. 518-520
    • Kraytsberg, Y.1    Kudryavtseva, E.2    McKee, A.C.3    Geula, C.4    Kowall, N.W.5    Khrapko, K.6
  • 22
    • 34548656405 scopus 로고    scopus 로고
    • A multiplex realtime PCR method to detect and quantify mitochondrial DNA deletions in individual cells
    • CrossRef Medline
    • Krishnan KJ, Bender A, Taylor RW, Turnbull DM (2007) A multiplex realtime PCR method to detect and quantify mitochondrial DNA deletions in individual cells. Anal Biochem 370:127-129. CrossRef Medline
    • (2007) Anal Biochem , vol.370 , pp. 127-129
    • Krishnan, K.J.1    Bender, A.2    Taylor, R.W.3    Turnbull, D.M.4
  • 23
    • 0020680904 scopus 로고
    • Chronic Parkinsonism in humans due to a product of meperidine-analog synthesis
    • CrossRef Medline
    • Langston JW, Ballard P, Tetrud JW, Irwin I (1983) Chronic Parkinsonism in humans due to a product of meperidine-analog synthesis. Science 219: 979-980. CrossRef Medline
    • (1983) Science , vol.219 , pp. 979-980
    • Langston, J.W.1    Ballard, P.2    Tetrud, J.W.3    Irwin, I.4
  • 26
    • 79151480727 scopus 로고    scopus 로고
    • Ubiquitin-proteasome system and mitochondria - reciprocity
    • CrossRef Medline
    • Livnat-Levanon N, Glickman MH (2011) Ubiquitin-proteasome system and mitochondria - reciprocity. Biochim Biophys Acta 1809:80-87. CrossRef Medline
    • (2011) Biochim Biophys Acta , pp. 80-87
    • Livnat-Levanon, N.1    Glickman, M.H.2
  • 28
    • 0028935631 scopus 로고
    • Cell counts in the substantia nigra: A comparison of single section counts and disector counts in patients with Parkinson's disease and in controls
    • CrossRef Medline
    • Ma SY, Collan Y, Röyttä M, Rinne JO, Rinne UK (1995a) Cell counts in the substantia nigra: a comparison of single section counts and disector counts in patients with Parkinson's disease and in controls. Neuropathol Appl Neurobiol 21:10-17. CrossRef Medline
    • (1995) Neuropathol Appl Neurobiol , vol.21 , pp. 10-17
    • Ma, S.Y.1    Collan, Y.2    Röyttä, M.3    Rinne, J.O.4    Rinne, U.K.5
  • 29
    • 0029129836 scopus 로고
    • Single section and disector counts in evaluating neuronal loss from the substantia nigra in patients with Parkinson's disease
    • CrossRef Medline
    • Ma SY, Röyttä M, Rinne JO, Collan Y, Rinne UK (1995b) Single section and disector counts in evaluating neuronal loss from the substantia nigra in patients with Parkinson's disease. Neuropathol Appl Neurobiol 21:341-343. CrossRef Medline
    • (1995) Neuropathol Appl Neurobiol , vol.21 , pp. 341-343
    • Ma, S.Y.1    Röyttä, M.2    Rinne, J.O.3    Collan, Y.4    Rinne, U.K.5
  • 31
    • 3543017697 scopus 로고    scopus 로고
    • A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism
    • CrossRef Medline
    • Mancuso M, Filosto M, Oh SJ, DiMauro S (2004) A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism. Arch Neurol 61:1777-1779. CrossRef Medline
    • (2004) Arch Neurol , vol.61 , pp. 1777-1779
    • Mancuso, M.1    Filosto, M.2    Oh, S.J.3    Dimauro, S.4
  • 32
    • 29744442267 scopus 로고    scopus 로고
    • Gene expression profiling of sporadic Parkinson's disease substantia nigra pars compacta reveals impairment of ubiquitinproteasome subunits, SKP1A, aldehyde dehydrogenase, and chaperone HSC-70
    • CrossRef Medline
    • Mandel S, Grunblatt E, Riederer P, Amariglio N, Jacob-Hirsch J, Rechavi G, Youdim MB (2005) Gene expression profiling of sporadic Parkinson's disease substantia nigra pars compacta reveals impairment of ubiquitinproteasome subunits, SKP1A, aldehyde dehydrogenase, and chaperone HSC-70. Ann N Y Acad Sci 1053:356-375. CrossRef Medline
    • (2005) Ann N Y Acad Sci , vol.1053 , pp. 356-375
    • Mandel, S.1    Grunblatt, E.2    Riederer, P.3    Amariglio, N.4    Jacob-Hirsch, J.5    Rechavi, G.6    Youdim, M.B.7
  • 33
    • 0035692636 scopus 로고    scopus 로고
    • DJ-1 is an indicator for endogenous reactive oxygen species elicited by endotoxin
    • CrossRef Medline
    • Mitsumoto A, Nakagawa Y (2001) DJ-1 is an indicator for endogenous reactive oxygen species elicited by endotoxin. Free Radic Res 35:885-893. CrossRef Medline
    • (2001) Free Radic Res , vol.35 , pp. 885-893
    • Mitsumoto, A.1    Nakagawa, Y.2
  • 34
    • 58149314211 scopus 로고    scopus 로고
    • Parkin is recruited selectively to impaired mitochondria and promotes their autophagy
    • CrossRef Medline
    • Narendra D, Tanaka A, Suen DF, Youle RJ (2008) Parkin is recruited selectively to impaired mitochondria and promotes their autophagy. J Cell Biol 183:795-803. CrossRef Medline
    • (2008) J Cell Biol , vol.183 , pp. 795-803
    • Narendra, D.1    Tanaka, A.2    Suen, D.F.3    Youle, R.J.4
  • 38
    • 42449095464 scopus 로고    scopus 로고
    • Mitochondrial association of alpha-synuclein causes oxidative stress
    • CrossRef Medline
    • Parihar MS, Parihar A, Fujita M, Hashimoto M, Ghafourifar P (2008) Mitochondrial association of alpha-synuclein causes oxidative stress. Cell Mol Life Sci 65:1272-1284. CrossRef Medline
    • (2008) Cell Mol Life Sci , vol.65 , pp. 1272-1284
    • Parihar, M.S.1    Parihar, A.2    Fujita, M.3    Hashimoto, M.4    Ghafourifar, P.5
  • 41
    • 4143081492 scopus 로고    scopus 로고
    • Two direct repeats cause most human mtDNA deletions
    • CrossRef Medline
    • Samuels DC, Schon EA, Chinnery PF (2004) Two direct repeats cause most human mtDNA deletions. Trends Genet 20:393-398. CrossRef Medline
    • (2004) Trends Genet , vol.20 , pp. 393-398
    • Samuels, D.C.1    Schon, E.A.2    Chinnery, P.F.3
  • 42
    • 79961032367 scopus 로고    scopus 로고
    • Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism
    • CrossRef Medline
    • Sato K, Yabe I, Yaguchi H, Nakano F, Kunieda Y, Saitoh S, Sasaki H (2011) Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism. J Neurol 258:1327-1332. CrossRef Medline
    • (2011) J Neurol , vol.258 , pp. 1327-1332
    • Sato, K.1    Yabe, I.2    Yaguchi, H.3    Nakano, F.4    Kunieda, Y.5    Saitoh, S.6    Sasaki, H.7
  • 44
    • 34250716407 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in Parkinson's disease
    • CrossRef Medline
    • Schapira AH (2007) Mitochondrial dysfunction in Parkinson's disease. Cell Death Differ 14:1261-1266. CrossRef Medline
    • (2007) Cell Death Differ , vol.14 , pp. 1261-1266
    • Schapira, A.H.1
  • 47
    • 34548657565 scopus 로고    scopus 로고
    • Calcium, ageing, and neuronal vulnerability in Parkinson's disease
    • CrossRef Medline
    • Surmeier DJ (2007) Calcium, ageing, and neuronal vulnerability in Parkinson's disease. Lancet Neurol 6:933-938. CrossRef Medline
    • (2007) Lancet Neurol , vol.6 , pp. 933-938
    • Surmeier, D.J.1
  • 48
    • 81255149611 scopus 로고    scopus 로고
    • The role of calcium and mitochondrial oxidant stress in the loss of substantia nigra pars compacta dopaminergic neurons in Parkinson's disease
    • CrossRef Medline
    • Surmeier DJ, Guzman JN, Sanchez-Padilla J, Schumacker PT (2011) The role of calcium and mitochondrial oxidant stress in the loss of substantia nigra pars compacta dopaminergic neurons in Parkinson's disease. Neuroscience 198:221-231. CrossRef Medline
    • (2011) Neuroscience , vol.198 , pp. 221-231
    • Surmeier, D.J.1    Guzman, J.N.2    Sanchez-Padilla, J.3    Schumacker, P.T.4
  • 50
    • 0033563669 scopus 로고    scopus 로고
    • Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome
    • CrossRef Medline
    • Tanji K, DiMauro S, Bonilla E (1999a) Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome. J Neurol Sci 166:64-70. CrossRef Medline
    • (1999) J Neurol Sci , vol.166 , pp. 64-70
    • Tanji, K.1    Dimauro, S.2    Bonilla, E.3
  • 51
    • 0033028210 scopus 로고    scopus 로고
    • Kearns-Sayre syndrome: Unusual pattern of expression of subunits of the respiratory chain in the cerebellar system
    • CrossRef Medline
    • Tanji K, Vu TH, Schon EA, DiMauro S, Bonilla E (1999b) Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system. Ann Neurol 45:377-383. CrossRef Medline
    • (1999) Ann Neurol , vol.45 , pp. 377-383
    • Tanji, K.1    Vu, T.H.2    Schon, E.A.3    Dimauro, S.4    Bonilla, E.5
  • 52
    • 17744393686 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in human disease
    • CrossRef Medline
    • Taylor RW, Turnbull DM (2005) Mitochondrial DNA mutations in human disease. Nat Rev Genet 6:389-402. CrossRef Medline
    • (2005) Nat Rev Genet , vol.6 , pp. 389-402
    • Taylor, R.W.1    Turnbull, D.M.2
  • 54
    • 79952451427 scopus 로고    scopus 로고
    • Mitophagy: The latest problem for Parkinson's disease
    • CrossRef Medline
    • Vives-Bauza C, Przedborski S (2011) Mitophagy: the latest problem for Parkinson's disease. Trends Mol Med 17:158-165. CrossRef Medline
    • (2011) Trends Mol Med , vol.17 , pp. 158-165
    • Vives-Bauza, C.1    Przedborski, S.2
  • 55
    • 27144460552 scopus 로고    scopus 로고
    • Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing
    • CrossRef Medline
    • White HE, Durston VJ, Seller A, Fratter C, Harvey JF, Cross NC (2005) Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing. Genet Test 9:190-199. CrossRef Medline
    • (2005) Genet Test , vol.9 , pp. 190-199
    • White, H.E.1    Durston, V.J.2    Seller, A.3    Fratter, C.4    Harvey, J.F.5    Cross, N.C.6
  • 56
    • 23044502947 scopus 로고    scopus 로고
    • Transcriptional analysis of multiple brain regions in Parkinson's disease supports the involvement of specific protein processing, energy metabolism, and signaling pathways, and suggests novel disease mechanisms
    • CrossRef Medline
    • Zhang Y, James M, Middleton FA, Davis RL (2005) Transcriptional analysis of multiple brain regions in Parkinson's disease supports the involvement of specific protein processing, energy metabolism, and signaling pathways, and suggests novel disease mechanisms. Am J Med Genet B Neuropsychiatr Genet. 137B:5-16. CrossRef Medline
    • (2005) Am J Med Genet B Neuropsychiatr Genet , vol.137 B , pp. 5-16
    • Zhang, Y.1    James, M.2    Middleton, F.A.3    Davis, R.L.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.