-
1
-
-
17744393686
-
Mitochondrial DNA mutations in human disease
-
Taylor RW, Turnbull DM (2005) Mitochondrial DNA mutations in human disease. Nat Rev Genet 6:389-402.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 389-402
-
-
Taylor, R.W.1
Turnbull, D.M.2
-
2
-
-
68149099553
-
The pathophysiology of mitochondrial disease as modeled in the mouse
-
Wallace DC, Fan W (2009) The pathophysiology of mitochondrial disease as modeled in the mouse. Genes Dev 23:1714-1736.
-
(2009)
Genes Dev
, vol.23
, pp. 1714-1736
-
-
Wallace, D.C.1
Fan, W.2
-
3
-
-
33646351299
-
Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons
-
Kraytsberg Y, et al. (2006) Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons. Nat Genet 38: 518-520.
-
(2006)
Nat Genet
, vol.38
, pp. 518-520
-
-
Kraytsberg, Y.1
-
4
-
-
33646375711
-
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease
-
Bender A, et al. (2006) High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet 38:515-517.
-
(2006)
Nat Genet
, vol.38
, pp. 515-517
-
-
Bender, A.1
-
5
-
-
37049004489
-
Mitochondria in the aetiology and pathogenesis of Parkinson's disease
-
Schapira AH (2008) Mitochondria in the aetiology and pathogenesis of Parkinson's disease. Lancet Neurol 7:97-109.
-
(2008)
Lancet Neurol
, vol.7
, pp. 97-109
-
-
Schapira, A.H.1
-
6
-
-
46249106487
-
Mitochondrial nucleoids maintain genetic autonomy but allow for functional complementation
-
Gilkerson RW, Schon EA, Hernandez E, Davidson MM (2008) Mitochondrial nucleoids maintain genetic autonomy but allow for functional complementation. J Cell Biol 181: 1117-1128.
-
(2008)
J Cell Biol
, vol.181
, pp. 1117-1128
-
-
Gilkerson, R.W.1
Schon, E.A.2
Hernandez, E.3
Davidson, M.M.4
-
7
-
-
26444545053
-
Rapid directional shift of mitochondrial DNA heteroplasmy in animal tissues by a mitochondrially targeted restriction endonuclease
-
Bayona-Bafaluy MP, Blits B, Battersby BJ, Shoubridge EA, Moraes CT (2005) Rapid directional shift of mitochondrial DNA heteroplasmy in animal tissues by a mitochondrially targeted restriction endonuclease. Proc Natl Acad Sci USA 102: 14392-14397.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 14392-14397
-
-
Bayona-Bafaluy, M.P.1
Blits, B.2
Battersby, B.J.3
Shoubridge, E.A.4
Moraes, C.T.5
-
8
-
-
0032499264
-
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
-
DOI 10.1038/33416
-
Kitada T, et al. (1998) Mutations in the Parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392:605-608. (Pubitemid 28207717)
-
(1998)
Nature
, vol.392
, Issue.6676
, pp. 605-608
-
-
Kitada, T.1
Asakawa, S.2
Hattori, N.3
Matsumine, H.4
Yamamura, Y.5
Minoshima, S.6
Yokochi, M.7
Mizuno, Y.8
Shimizu, N.9
-
9
-
-
0033933048
-
Familial Parkinson disease gene product, Parkin, is a ubiquitin-protein ligase
-
Shimura H, et al. (2000) Familial Parkinson disease gene product, Parkin, is a ubiquitin-protein ligase. Nat Genet 25:302-305.
-
(2000)
Nat Genet
, vol.25
, pp. 302-305
-
-
Shimura, H.1
-
10
-
-
33746080412
-
Mitochondrial pathology and muscle and dopaminergic neuron degeneration caused by inactivation of Drosophila Pink1 is rescued by Parkin
-
Yang Y, et al. (2006) Mitochondrial pathology and muscle and dopaminergic neuron degeneration caused by inactivation of Drosophila Pink1 is rescued by Parkin. Proc Natl Acad Sci USA 103:10793-10798.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 10793-10798
-
-
Yang, Y.1
-
11
-
-
0037386532
-
Mitochondrial pathology and apoptotic muscle degeneration in Drosophila Parkin mutants
-
Greene JC, et al. (2003) Mitochondrial pathology and apoptotic muscle degeneration in Drosophila Parkin mutants. Proc Natl Acad Sci USA 100:4078-4083.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 4078-4083
-
-
Greene, J.C.1
-
12
-
-
33745589773
-
Drosophila pink1 is required for mitochondrial function and interacts genetically with Parkin
-
Clark IE, et al. (2006) Drosophila pink1 is required for mitochondrial function and interacts genetically with Parkin. Nature 441:1162-1166.
-
(2006)
Nature
, vol.441
, pp. 1162-1166
-
-
Clark, I.E.1
-
13
-
-
33745602748
-
Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin
-
Park J, et al. (2006) Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin. Nature 441:1157-1161.
-
(2006)
Nature
, vol.441
, pp. 1157-1161
-
-
Park, J.1
-
14
-
-
2442481789
-
Mitochondrial dysfunction and oxidative damage in Parkin-deficient mice
-
Palacino JJ, et al. (2004) Mitochondrial dysfunction and oxidative damage in Parkin-deficient mice. J Biol Chem 279:18614-18622.
-
(2004)
J Biol Chem
, vol.279
, pp. 18614-18622
-
-
Palacino, J.J.1
-
15
-
-
34249946941
-
Mono- and double-mutant mouse models of Parkinson's disease display severe mitochondrial damage
-
Stichel CC, et al. (2007) Mono- and double-mutant mouse models of Parkinson's disease display severe mitochondrial damage. Hum Mol Genet 16:2377-2393.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2377-2393
-
-
Stichel, C.C.1
-
16
-
-
58149314211
-
Parkin is recruited selectively to impaired mitochondria and promotes their autophagy
-
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.
-
(2008)
J Cell Biol
, vol.183
, pp. 795-803
-
-
Narendra, D.1
Tanaka, A.2
Suen, D.F.3
Youle, R.J.4
-
17
-
-
0032483497
-
Functional F1-ATPase essential in maintaining growth and membrane potential of human mitochondrial DNA-depleted rho degrees cells
-
Buchet K, Godinot C (1998) Functional F1-ATPase essential in maintaining growth and membrane potential of human mitochondrial DNA-depleted rho degrees cells. J Biol Chem 273:22983-22989.
-
(1998)
J Biol Chem
, vol.273
, pp. 22983-22989
-
-
Buchet, K.1
Godinot, C.2
-
18
-
-
0033563018
-
Quantitation and origin of the mitochondrial membrane potential in human cells lacking mitochondrial DNA
-
Appleby RD, et al. (1999) Quantitation and origin of the mitochondrial membrane potential in human cells lacking mitochondrial DNA. Eur J Biochem 262:108-116.
-
(1999)
Eur J Biochem
, vol.262
, pp. 108-116
-
-
Appleby, R.D.1
-
19
-
-
0024448458
-
Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
-
King MP, Attardi G (1989) Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation. Science 246:500-503.
-
(1989)
Science
, vol.246
, pp. 500-503
-
-
King, M.P.1
Attardi, G.2
-
20
-
-
0034938364
-
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
-
Spelbrink JN, et al. (2001) Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 28:223-231.
-
(2001)
Nat Genet
, vol.28
, pp. 223-231
-
-
Spelbrink, J.N.1
-
21
-
-
34447249263
-
Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle
-
Baloh RH, Salavaggione E, Milbrandt J, Pestronk A (2007) Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Arch Neurol 64:998-1000.
-
(2007)
Arch Neurol
, vol.64
, pp. 998-1000
-
-
Baloh, R.H.1
Salavaggione, E.2
Milbrandt, J.3
Pestronk, A.4
-
22
-
-
66849097994
-
Finding twinkle in the eyes of a 71-year-old lady: A case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease
-
Van Hove JL, et al. (2009) Finding twinkle in the eyes of a 71-year-old lady: A case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. Am J Med Genet A 149A:861-867.
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 861-867
-
-
Van Hove, J.L.1
-
23
-
-
34250868951
-
Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes
-
Wanrooij S, Goffart S, Pohjoismäki JL, Yasukawa T, Spelbrink JN (2007) Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes. Nucleic Acids Res 35:3238-3251.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 3238-3251
-
-
Wanrooij, S.1
Goffart, S.2
Pohjoismäki, J.L.3
Yasukawa, T.4
Spelbrink, J.N.5
-
24
-
-
0033767317
-
An out-of-frame cytochrome b gene deletion from a patient with parkinsonism is associated with impaired complex III assembly and an increase in free radical production
-
Rana M, de Coo I, Diaz F, Smeets H, Moraes CT (2000) An out-of-frame cytochrome b gene deletion from a patient with parkinsonism is associated with impaired complex III assembly and an increase in free radical production. Ann Neurol 48: 774-781.
-
(2000)
Ann Neurol
, vol.48
, pp. 774-781
-
-
Rana, M.1
De Coo, I.2
Diaz, F.3
Smeets, H.4
Moraes, C.T.5
-
25
-
-
0033358741
-
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV
-
Bruno C, et al. (1999) A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV. Am J Hum Genet 65: 611-620.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 611-620
-
-
Bruno, C.1
-
26
-
-
0345120940
-
Measurement of mitochondrial membrane potential using fluorescent rhodamine derivatives
-
Scaduto RC, Jr, Grotyohann LW (1999) Measurement of mitochondrial membrane potential using fluorescent rhodamine derivatives. Biophys J 76:469-477.
-
(1999)
Biophys J
, vol.76
, pp. 469-477
-
-
Scaduto Jr., R.C.1
Grotyohann, L.W.2
-
27
-
-
75749156257
-
PINK1 is selectively stabilized on impaired mitochondria to activate Parkin
-
Narendra DP, et al. (2010) PINK1 is selectively stabilized on impaired mitochondria to activate Parkin. PLoS Biol 8:e1000298.
-
(2010)
PLoS Biol
, vol.8
-
-
Narendra, D.P.1
-
28
-
-
77951181836
-
PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy
-
Matsuda N, et al. (2010) PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy. J Cell Biol 189:211-221.
-
(2010)
J Cell Biol
, vol.189
, pp. 211-221
-
-
Matsuda, N.1
-
29
-
-
75949098487
-
PINK1-dependent recruitment of Parkin to mitochondria in mitophagy
-
Vives-Bauza C, et al. (2010) PINK1-dependent recruitment of Parkin to mitochondria in mitophagy. Proc Natl Acad Sci USA 107:378-383.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 378-383
-
-
Vives-Bauza, C.1
-
30
-
-
75949130828
-
PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1
-
Geisler S, et al. (2010) PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1. Nat Cell Biol 12:119-131.
-
(2010)
Nat Cell Biol
, vol.12
, pp. 119-131
-
-
Geisler, S.1
-
31
-
-
0037213306
-
Disruption of mitochondrial networks by the human cytomegalovirus UL37 gene product viral mitochondrion-localized inhibitor of apoptosis
-
McCormick AL, Smith VL, Chow D, Mocarski ES (2003) Disruption of mitochondrial networks by the human cytomegalovirus UL37 gene product viral mitochondrion-localized inhibitor of apoptosis. J Virol 77:631-641.
-
(2003)
J Virol
, vol.77
, pp. 631-641
-
-
McCormick, A.L.1
Smith, V.L.2
Chow, D.3
Mocarski, E.S.4
-
32
-
-
10744224951
-
Novel monoclonal antibodies demonstrate biochemical variation of brain Parkin with age
-
Pawlyk AC, et al. (2003) Novel monoclonal antibodies demonstrate biochemical variation of brain Parkin with age. J Biol Chem 278:48120-48128.
-
(2003)
J Biol Chem
, vol.278
, pp. 48120-48128
-
-
Pawlyk, A.C.1
-
33
-
-
0029100144
-
Segregation of mitochondrial DNAs carrying a pathogenic point mutation (tRNA(leu3243)) in cybrid cells
-
Shoubridge EA (1995) Segregation of mitochondrial DNAs carrying a pathogenic point mutation (tRNA(leu3243)) in cybrid cells. Biochem Biophys Res Commun 213: 189-195.
-
(1995)
Biochem Biophys Res Commun
, vol.213
, pp. 189-195
-
-
Shoubridge, E.A.1
-
34
-
-
38549110110
-
Fission and selective fusion govern mitochondrial segregation and elimination by autophagy
-
Twig G, et al. (2008) Fission and selective fusion govern mitochondrial segregation and elimination by autophagy. EMBO J 27:433-446.
-
(2008)
EMBO J
, vol.27
, pp. 433-446
-
-
Twig, G.1
|