-
1
-
-
0023883150
-
Deletions of muscle mitochondrial-DNA in patients with mitochondrial myopathies
-
Holt IJ, Harding AE, Morganhughes JA (1988) Deletions of muscle mitochondrial-DNA in patients with mitochondrial myopathies. Nature 331:717-719
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morganhughes, J.A.3
-
2
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace DC, Singh G, Lott MT et al (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242:1427-1430
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
-
3
-
-
0037972522
-
Mechanisms of disease: Mitochondrial respiratory-chain diseases
-
DiMauro S, Schon EA (2003) Mechanisms of disease: mitochondrial respiratory-chain diseases. N Engl J Med 348:2656-2668
-
(2003)
N Engl J Med
, vol.348
, pp. 2656-2668
-
-
Dimauro, S.1
Schon, E.A.2
-
4
-
-
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
-
6
-
-
0034943967
-
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
-
Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C (2001) Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 28:211-212
-
(2001)
Nat Genet
, vol.28
, pp. 211-212
-
-
Van Goethem, G.1
Dermaut, B.2
Lofgren, A.3
Martin, J.J.4
Van Broeckhoven, C.5
-
7
-
-
0034938364
-
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene LF-like protein localized in mitochondria
-
Spelbrink JN, Li FY, Tiranti V et al (2001) Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene LF-like protein localized in mitochondria. Nat Genet 28:223-231
-
(2001)
Nat Genet
, vol.28
, pp. 223-231
-
-
Spelbrink, J.N.1
Li, F.Y.2
Tiranti, V.3
-
8
-
-
41549151612
-
155th ENMC workshop: Polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, the Netherlands
-
Chinnery PF, Zeviani M (2008) 155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands. Neuromuscul Disord 18:259-267
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 259-267
-
-
Chinnery, P.F.1
Zeviani, M.2
-
9
-
-
39749124232
-
What causes mitochondrial DNA deletions in human cells?
-
Krishnan KJ, Reeve AK, Samuels DC et al (2008) What causes mitochondrial DNA deletions in human cells? Nat Genet 40:275-279
-
(2008)
Nat Genet
, vol.40
, pp. 275-279
-
-
Krishnan, K.J.1
Reeve, A.K.2
Samuels, D.C.3
-
10
-
-
79960918493
-
The timing of mitochondrial DNA mutations in aging
-
Khrapko K (2011) The timing of mitochondrial DNA mutations in aging. Nat Genet 43:726- 727
-
(2011)
Nat Genet
, vol.43
, pp. 726-727
-
-
Khrapko, K.1
-
11
-
-
0036275652
-
The distribution of mitochondrial activity in relation to optic nerve structure
-
Bristow EA, Griffiths PG, Andrews RM, Johnson MA, Turnbull DM (2002) The distribution of mitochondrial activity in relation to optic nerve structure. Arch Ophthalmol 120:791-796
-
(2002)
Arch Ophthalmol
, vol.120
, pp. 791-796
-
-
Bristow, E.A.1
Griffiths, P.G.2
Andrews, R.M.3
Johnson, M.A.4
Turnbull, D.M.5
-
12
-
-
78649413837
-
Mitochondrial fusion and fission in cell life and death
-
Westermann B (2010) Mitochondrial fusion and fission in cell life and death. Nat Rev Mol Cell Biol 11:872-884
-
(2010)
Nat Rev Mol Cell Biol
, vol.11
, pp. 872-884
-
-
Westermann, B.1
-
13
-
-
0942268749
-
The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head
-
Barron MJ, Griffiths P, Turnbull DM, Bates D, Nichols P (2004) The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head. Br J Ophthalmol 88:286-290
-
(2004)
Br J Ophthalmol
, vol.88
, pp. 286-290
-
-
Barron, M.J.1
Griffiths, P.2
Turnbull, D.M.3
Bates, D.4
Nichols, P.5
-
14
-
-
33750445482
-
Mitochondrial fusion and fission in mammals
-
Chan DC (2006) Mitochondrial fusion and fission in mammals. Annu Rev Cell Dev Biol 22:79-99
-
(2006)
Annu Rev Cell Dev Biol
, vol.22
, pp. 79-99
-
-
Chan, D.C.1
-
15
-
-
77956230098
-
Mitochondrial shape changes: Orchestrating cell pathophysiology
-
Campello S, Scorrano L (2010) Mitochondrial shape changes: orchestrating cell pathophysiology. EMBO Rep 11:678-684
-
(2010)
EMBO Rep
, vol.11
, pp. 678-684
-
-
Campello, S.1
Scorrano, L.2
-
16
-
-
0742288598
-
The dynamin superfamily: Universal membrane tubulation and fission molecules?
-
Praefcke GJK, McMahon HT (2004) The dynamin superfamily: universal membrane tubulation and fission molecules? Nat Rev Mol Cell Biol 5:133-147
-
(2004)
Nat Rev Mol Cell Biol
, vol.5
, pp. 133-147
-
-
Praefcke, G.J.K.1
McMahon, H.T.2
-
18
-
-
77951096150
-
Mitochondrial dynamics-fusion, fission, movement, and mitophagyin neurodegenerative diseases
-
Chen H, ChanDC(2009) Mitochondrial dynamics-fusion, fission, movement, and mitophagyin neurodegenerative diseases. Hum Mol Genet 18:R169-R176
-
(2009)
Hum Mol Genet
, vol.18
, pp. R169-R176
-
-
Chen, H.1
Chan, D.C.2
-
19
-
-
79551638162
-
Mitochondrial optic neuropathies-disease mechanisms and therapeutic strategies
-
Yu-Wai-Man P, Griffiths PG, Chinnery PF (2011) Mitochondrial optic neuropathies-disease mechanisms and therapeutic strategies. Prog Retin Eye Res 30(2):81-114
-
(2011)
Prog Retin Eye Res
, vol.30
, Issue.2
, pp. 81-114
-
-
Yu-Wai-Man, P.1
Griffiths, P.G.2
Chinnery, P.F.3
-
21
-
-
77955473981
-
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations
-
Yu-Wai-Man P, Griffiths PG, Burke A et al (2010) The prevalence and natural history of dominant optic atrophy due to OPA1 mutations. Ophthalmol 117:1538-1546
-
(2010)
Ophthalmol
, vol.117
, pp. 1538-1546
-
-
Yu-Wai-Man, P.1
Griffiths, P.G.2
Burke, A.3
-
22
-
-
33947360806
-
Autosomal dominant optic atrophy: Penetrance and expressivity in patients with OPA1 mutations
-
Cohn AC, Toomes C, Potter C et al (2007) Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Amer J Ophthalmol 143:656-662
-
(2007)
Amer J Ophthalmol
, vol.143
, pp. 656-662
-
-
Cohn, A.C.1
Toomes, C.2
Potter, C.3
-
23
-
-
62149123731
-
The natural history of OPA1-related autosomal dominant optic atrophy
-
CohnAC, Toomes C, HewittAWet al (2008) The natural history of OPA1-related autosomal dominant optic atrophy. Br J Ophthalmol 24:24
-
(2008)
Br J Ophthalmol
, vol.24
, pp. 24
-
-
Cohn, A.C.1
Toomes, C.2
Hewitt, A.W.3
-
24
-
-
0031915967
-
Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy
-
Votruba M, Fitzke FW, Holder GE, Carter A, Bhattacharya SS, MooreAT (1998) Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Arch Ophthalmol 116:351-358
-
(1998)
Arch Ophthalmol
, vol.116
, pp. 351-358
-
-
Votruba, M.1
Fitzke, F.W.2
Holder, G.E.3
Carter, A.4
Bhattacharya, S.S.5
Moore, A.T.6
-
26
-
-
77957039148
-
Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies
-
La Morgia C, Ross-Cisneros FN, SadunAA et al (2010) Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies. Brain 133:2426-2438
-
(2010)
Brain
, vol.133
, pp. 2426-2438
-
-
La Morgia, C.1
Ross-Cisneros, F.N.2
Sadun, A.A.3
-
27
-
-
33748760069
-
Focus on molecules: The OPA1 protein
-
Davies V, Votruba M (2006) Focus on molecules: the OPA1 protein. Exp Eye Res 83:1003- 1004
-
(2006)
Exp Eye Res
, vol.83
, pp. 1003-1004
-
-
Davies, V.1
Votruba, M.2
-
28
-
-
33947434544
-
OPA1 alternate splicing uncouples an evolutionary conserved function in mitochondrial fusion from a vertebrate restricted function in apoptosis
-
Olichon A, Elachouri G, Baricault L, Delettre C, Belenguer P, Lenaers G (2007) OPA1 alternate splicing uncouples an evolutionary conserved function in mitochondrial fusion from a vertebrate restricted function in apoptosis. Cell Death Diff 14:682-692
-
(2007)
Cell Death Diff
, vol.14
, pp. 682-692
-
-
Olichon, A.1
Elachouri, G.2
Baricault, L.3
Delettre, C.4
Belenguer, P.5
Lenaers, G.6
-
29
-
-
45249104409
-
Characterization of OPA1 isoforms isolated from mouse tissues
-
Akepati VR (2008) Characterization of OPA1 isoforms isolated from mouse tissues. J Neurochem 106:372-383
-
(2008)
J Neurochem
, vol.106
, pp. 372-383
-
-
Akepati, V.R.1
-
30
-
-
68949089961
-
OPA1 functions in mitochondria and dysfunctions in optic nerve
-
Lenaers G, Reynier P, Elachouri G et al (2009) OPA1 functions in mitochondria and dysfunctions in optic nerve. Int J Biochem Cell Biol 41:1866-1874
-
(2009)
Int J Biochem Cell Biol
, vol.41
, pp. 1866-1874
-
-
Lenaers, G.1
Reynier, P.2
Elachouri, G.3
-
31
-
-
0033772264
-
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
-
Alexander C, Votruba M, Pesch UEA et al (2000) OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 26:211-215
-
(2000)
Nat Genet
, vol.26
, pp. 211-215
-
-
Alexander, C.1
Votruba, M.2
Pesch, U.E.A.3
-
32
-
-
20244381365
-
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
-
Delettre C, Lenaers G, Griffoin JM et al (2000) Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 26:207-210
-
(2000)
Nat Genet
, vol.26
, pp. 207-210
-
-
Delettre, C.1
Lenaers, G.2
Griffoin, J.M.3
-
33
-
-
27744441594
-
EOPA1: An online database for OPA1 mutations
-
Ferre M, Amati-Bonneau P, Tourmen Y, Malthiery Y, Reynier P (2005) eOPA1: an online database for OPA1 mutations. Hum Mutat 25:423-428
-
(2005)
Hum Mutat
, vol.25
, pp. 423-428
-
-
Ferre, M.1
Amati-Bonneau, P.2
Tourmen, Y.3
Malthiery, Y.4
Reynier, P.5
-
34
-
-
67649658061
-
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations
-
Ferre M, Bonneau D, Milea D et al (2009) Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat 30:E692- 705
-
(2009)
Hum Mutat
, vol.30
, pp. E692-E705
-
-
Ferre, M.1
Bonneau, D.2
Milea, D.3
-
35
-
-
62149096080
-
Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy
-
Fuhrmann N, Alavi MV, Bitoun P et al (2009) Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy. J Med Genet 46:136-144
-
(2009)
J Med Genet
, vol.46
, pp. 136-144
-
-
Fuhrmann, N.1
Alavi, M.V.2
Bitoun, P.3
-
36
-
-
79953261161
-
Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy
-
Almind GJ, Gronskov K, Milea D, Larsen M, Brondum-Nielsen K, Ek J (2011) Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy. BMC Med Genet 12:49
-
(2011)
BMC Med Genet
, vol.12
, pp. 49
-
-
Almind, G.J.1
Gronskov, K.2
Milea, D.3
Larsen, M.4
Brondum-Nielsen, K.5
Ek, J.6
-
37
-
-
38149058202
-
Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons
-
Schimpf S, Fuhrmann N, Schaich S, Wissinger B (2008) Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons. Hum Mutat 29:106-112
-
(2008)
Hum Mutat
, vol.29
, pp. 106-112
-
-
Schimpf, S.1
Fuhrmann, N.2
Schaich, S.3
Wissinger, B.4
-
38
-
-
0344873191
-
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene
-
Amati-Bonneau P, Odent S, Derrien C et al (2003) The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene. Am J Ophthalmol 136:1170-1171
-
(2003)
Am J Ophthalmol
, vol.136
, pp. 1170-1171
-
-
Amati-Bonneau, P.1
Odent, S.2
Derrien, C.3
-
39
-
-
28544431607
-
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness
-
Amati-Bonneau P, Guichet A, OlichonA et al (2005) OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Ann Neurol 58:958-963
-
(2005)
Ann Neurol
, vol.58
, pp. 958-963
-
-
Amati-Bonneau, P.1
Guichet, A.2
Olichon, A.3
-
40
-
-
25644432134
-
Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation
-
Li CM, Kosmorsky G, Zhang K, Katz BJ, Ge J, Traboulsi EI (2005) Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.Am J Med Genet Part A 138A:208-211
-
(2005)
Am J Med Genet Part A
, vol.138 A
, pp. 208-211
-
-
Li, C.M.1
Kosmorsky, G.2
Zhang, K.3
Katz, B.J.4
Ge, J.5
Traboulsi, E.I.6
-
41
-
-
7544246760
-
Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: A syndrome caused by a missense mutation in OPA1
-
Payne M, Yang ZL, Katz BJ et al (2004) Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. Am J Ophthalmol 138:749-755
-
(2004)
Am J Ophthalmol
, vol.138
, pp. 749-755
-
-
Payne, M.1
Yang, Z.L.2
Katz, B.J.3
-
42
-
-
38849151612
-
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: A novel disorder of mtDNA maintenance
-
Hudson G, Amati-Bonneau P, Blakely EL et al (2008) Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain 131:329-337
-
(2008)
Brain
, vol.131
, pp. 329-337
-
-
Hudson, G.1
Amati-Bonneau, P.2
Blakely, E.L.3
-
43
-
-
38849192448
-
OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes
-
Amati-Bonneau P, Valentino ML, Reynier P et al (2008)OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes. Brain 131:338-351
-
(2008)
Brain
, vol.131
, pp. 338-351
-
-
Amati-Bonneau, P.1
Valentino, M.L.2
Reynier, P.3
-
44
-
-
54449084658
-
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function
-
Spinazzi M, Cazzola S, Bortolozzi M et al (2008) A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function. Hum Mol Genet 17:3291-3302
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3291-3302
-
-
Spinazzi, M.1
Cazzola, S.2
Bortolozzi, M.3
-
45
-
-
77950244975
-
Multi-system neurological disease is common in patients with OPA1 mutations
-
Yu-Wai-Man P, Griffiths PG, Gorman GS et al (2010) Multi-system neurological disease is common in patients with OPA1 mutations. Brain 133:771-786
-
(2010)
Brain
, vol.133
, pp. 771-786
-
-
Yu-Wai-Man, P.1
Griffiths, P.G.2
Gorman, G.S.3
-
46
-
-
0036676330
-
Deletion of the OPA1 gene in a dominant optic atrophy family: Evidence that haploinsufficiency is the cause of disease
-
Marchbank NJ, Craig JE, Leek JP et al (2002) Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease. J Med Genet 39:e47
-
(2002)
J Med Genet
, vol.39
, pp. e47
-
-
Marchbank, N.J.1
Craig, J.E.2
Leek, J.P.3
-
47
-
-
3042533781
-
Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer
-
Aijaz S, Erskine L, Jeffery G, Bhattacharya SS, VotrubaM(2004) Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer. Invest Ophthalmol Visual Sci 45:1667-1673
-
(2004)
Invest Ophthalmol Visual Sci
, vol.45
, pp. 1667-1673
-
-
Aijaz, S.1
Erskine, L.2
Jeffery, G.3
Bhattacharya, S.S.4
Votruba, M.5
-
48
-
-
18344378456
-
OPA1, associated with autosomal dominant optic atrophy, is widely expressed in the human brain
-
Bette S, Schlaszus H, Wissinger B, Meyermann R, Mittelbronn M (2005) OPA1, associated with autosomal dominant optic atrophy, is widely expressed in the human brain. Acta Neuropathol 109:393-399
-
(2005)
Acta Neuropathol
, vol.109
, pp. 393-399
-
-
Bette, S.1
Schlaszus, H.2
Wissinger, B.3
Meyermann, R.4
Mittelbronn, M.5
-
49
-
-
33748690957
-
OPA1 expression in the human retina and optic nerve
-
Wang AG, Fann MJ, Yu HY, Yen MY (2006) OPA1 expression in the human retina and optic nerve. Exp Eye Res 83:1171-1178
-
(2006)
Exp Eye Res
, vol.83
, pp. 1171-1178
-
-
Wang, A.G.1
Fann, M.J.2
Yu, H.Y.3
Yen, M.Y.4
-
50
-
-
34250768073
-
A cut short to death: Parl and Opa1 in the regulation of mitochondrial morphology and apoptosis
-
Pellegrini L, Scorrano L (2007) A cut short to death: Parl and Opa1 in the regulation of mitochondrial morphology and apoptosis. Cell Death Diff 14:1275-1284
-
(2007)
Cell Death Diff
, vol.14
, pp. 1275-1284
-
-
Pellegrini, L.1
Scorrano, L.2
-
52
-
-
33744970020
-
Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia
-
Rugarli EI, Langer T (2006) Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia. Trends Mol Med 12:262-269
-
(2006)
Trends Mol Med
, vol.12
, pp. 262-269
-
-
Rugarli, E.I.1
Langer, T.2
-
53
-
-
0032511186
-
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
-
Casari G, De Fusco M, Ciarmatori S et al (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93:973-983
-
(1998)
Cell
, vol.93
, pp. 973-983
-
-
Casari, G.1
De Fusco, M.2
Ciarmatori, S.3
-
54
-
-
46749111893
-
Hereditary optic neuropathies share a common mitochondrial coupling defect
-
Chevrollier A (2008) Hereditary optic neuropathies share a common mitochondrial coupling defect. Ann Neurol 63:794-798
-
(2008)
Ann Neurol
, vol.63
, pp. 794-798
-
-
Chevrollier, A.1
-
55
-
-
38849190029
-
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion
-
Zanna C, Ghelli A, PorcelliAM et al (2008) OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. Brain 131:352-367
-
(2008)
Brain
, vol.131
, pp. 352-367
-
-
Zanna, C.1
Ghelli, A.2
Porcelli, A.M.3
-
56
-
-
34548313688
-
OPA1 processing controls mitochondrial fusion and is regulated by mRNA splicing, membrane potential, andYme1L
-
Song ZY, Chen H, Fiket M, Alexander C, Chan DC (2007) OPA1 processing controls mitochondrial fusion and is regulated by mRNA splicing, membrane potential, andYme1L. J Cell Biol 178:749-755
-
(2007)
J Cell Biol
, vol.178
, pp. 749-755
-
-
Song, Z.Y.1
Chen, H.2
Fiket, M.3
Alexander, C.4
Chan, D.C.5
-
57
-
-
33745685054
-
Mitochondrial rhomboid PARL regulates cytochrome c release during apoptosis via OPA1-dependent cristae remodeling
-
Cipolat S, Rudka T, Hartmann D et al (2006) Mitochondrial rhomboid PARL regulates cytochrome c release during apoptosis via OPA1-dependent cristae remodeling. Cell 126:163-175
-
(2006)
Cell
, vol.126
, pp. 163-175
-
-
Cipolat, S.1
Rudka, T.2
Hartmann, D.3
-
58
-
-
33745699393
-
OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion
-
Frezza C, Cipolat S, de Brito OM et al (2006) OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion. Cell 126:177-189
-
(2006)
Cell
, vol.126
, pp. 177-189
-
-
Frezza, C.1
Cipolat, S.2
De Brito, O.M.3
-
59
-
-
45349094984
-
Mitochondrial dynamics and apoptosis
-
Suen DF, Norris KL, Youle RJ (2008) Mitochondrial dynamics and apoptosis. Genes Dev 22:1577-1590
-
(2008)
Genes Dev
, vol.22
, pp. 1577-1590
-
-
Suen, D.F.1
Norris, K.L.2
Youle, R.J.3
-
60
-
-
9144238312
-
Deficit of in vivo mitochondrialATP production in OPA1-related dominant optic atrophy
-
Lodi R, Tonon C, Valentino ML et al (2004) Deficit of in vivo mitochondrialATP production in OPA1-related dominant optic atrophy. Ann Neurol 56:719-723
-
(2004)
Ann Neurol
, vol.56
, pp. 719-723
-
-
Lodi, R.1
Tonon, C.2
Valentino, M.L.3
-
61
-
-
79953659917
-
OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy
-
Yu-Wai-Man P, Trenell MI, Hollingsworth KG, Griffiths PG, Chinnery PF (2011) OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy. Brain 134:e164
-
(2011)
Brain
, vol.134
, pp. e164
-
-
Yu-Wai-Man, P.1
Trenell, M.I.2
Hollingsworth, K.G.3
Griffiths, P.G.4
Chinnery, P.F.5
-
62
-
-
78651304811
-
Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations
-
Lodi R, Tonon C, Valentino ML et al (2011) Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations. Arch Neurol 68:67-73
-
(2011)
Arch Neurol
, vol.68
, pp. 67-73
-
-
Lodi, R.1
Tonon, C.2
Valentino, M.L.3
-
63
-
-
77958198681
-
OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-typemtDNAmolecules
-
Yu-Wai-Man P, Sitarz KS, Samuels DC et al (2010) OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-typemtDNAmolecules. HumMol Genet 19:3043-3052
-
(2010)
HumMol Genet
, vol.19
, pp. 3043-3052
-
-
Yu-Wai-Man, P.1
Sitarz, K.S.2
Samuels, D.C.3
-
64
-
-
0037459945
-
A model of the nuclear control of mitochondrial DNA replication
-
Capps GJ, Samuels DC, Chinnery PF (2003)A model of the nuclear control of mitochondrial DNA replication. J Theor Biol 221:565-583
-
(2003)
J Theor Biol
, vol.221
, pp. 565-583
-
-
Capps, G.J.1
Samuels, D.C.2
Chinnery, P.F.3
-
65
-
-
0033358580
-
Relaxed replication of mtDNA: A model with implications for the expression of disease
-
Chinnery PF, Samuels DC (1999) Relaxed replication of mtDNA: a model with implications for the expression of disease. Am J Hum Genet 64:1158-1165
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1158-1165
-
-
Chinnery, P.F.1
Samuels, D.C.2
-
66
-
-
34347256160
-
Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A→G
-
Durham SE, Samuels DC, Cree LM, Chinnery PF (2007) Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A→G. Am J Hum Genet 81:189-195
-
(2007)
Am J Hum Genet
, vol.81
, pp. 189-195
-
-
Durham, S.E.1
Samuels, D.C.2
Cree, L.M.3
Chinnery, P.F.4
-
67
-
-
34447314190
-
Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function
-
Davies VJ, Hollins AJ, Piechota MJ et al (2007) Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function. Hum Mol Genet 16:1307-1318
-
(2007)
Hum Mol Genet
, vol.16
, pp. 1307-1318
-
-
Davies, V.J.1
Hollins, A.J.2
Piechota, M.J.3
-
68
-
-
34249693479
-
A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy
-
Alavi MV, Bette S, Schimpf S et al (2007) A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy. Brain 130:1029-1042
-
(2007)
Brain
, vol.130
, pp. 1029-1042
-
-
Alavi, M.V.1
Bette, S.2
Schimpf, S.3
-
69
-
-
77957683695
-
Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathy
-
Williams PA, Morgan JE, Votruba M (2011) Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathy. Brain 133:2942-2951
-
(2011)
Brain
, vol.133
, pp. 2942-2951
-
-
Williams, P.A.1
Morgan, J.E.2
Votruba, M.3
-
70
-
-
70349577525
-
Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy
-
Yu-Wai-Man P, Davies VJ, Piechota MJ, Cree LM, Votruba M, Chinnery PF (2009) Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy. Invest Ophthalmol Vis Sci 50:4561-4566
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, pp. 4561-4566
-
-
Yu-Wai-Man, P.1
Davies, V.J.2
Piechota, M.J.3
Cree, L.M.4
Votruba, M.5
Chinnery, P.F.6
-
71
-
-
0035205389
-
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): Identification of the OPA3 gene and its founder mutation in Iraqi Jews
-
Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O (2001) Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet 69:1218-1224
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1218-1224
-
-
Anikster, Y.1
Kleta, R.2
Shaag, A.3
Gahl, W.A.4
Elpeleg, O.5
-
72
-
-
17644401441
-
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
-
Reynier P, Amati-Bonneau P, Verny C et al (2004) OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J Med Genet 41(9):e110
-
(2004)
J Med Genet
, vol.41
, Issue.9
, pp. e110
-
-
Reynier, P.1
Amati-Bonneau, P.2
Verny, C.3
-
73
-
-
0142071668
-
Proteomic analysis of the mouse liver mitochondrial inner membrane
-
Da Cruz S, Xenarios I, Langridge J, Vilbois F, Parone PA, Martinou JC (2003) Proteomic analysis of the mouse liver mitochondrial inner membrane. J Biol Chem 278:41566-41571
-
(2003)
J Biol Chem
, vol.278
, pp. 41566-41571
-
-
Da Cruz, S.1
Xenarios, I.2
Langridge, J.3
Vilbois, F.4
Parone, P.A.5
Martinou, J.C.6
-
74
-
-
77952097114
-
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria
-
Huizing M, Dorward H, Ly L et al (2010) OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. Mol Genet Metab 100:149- 154
-
(2010)
Mol Genet Metab
, vol.100
, pp. 149-154
-
-
Huizing, M.1
Dorward, H.2
Ly, L.3
-
75
-
-
77955709957
-
Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation
-
Ryu SW, Jeong HJ, Choi M, Karbowski M, Choi C (2010) Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation. Cell Mol Life Sci 67:2839-2850
-
(2010)
Cell Mol Life Sci
, vol.67
, pp. 2839-2850
-
-
Ryu, S.W.1
Jeong, H.J.2
Choi, M.3
Karbowski, M.4
Choi, C.5
-
76
-
-
77955752917
-
A model of Costeff syndrome reveals metabolic and protective functions of mitochondrial OPA3
-
Pei WH, Kratz LE, Bernardini I et al (2010) A model of Costeff syndrome reveals metabolic and protective functions of mitochondrial OPA3. Dev 137:2587-2596
-
(2010)
Dev
, vol.137
, pp. 2587-2596
-
-
Pei, W.H.1
Kratz, L.E.2
Bernardini, I.3
-
77
-
-
38849112595
-
A missense mutation in the murine Opa3 gene models human Costeff syndrome
-
Davies VJ, Powell KA, White KE et al (2008) A missense mutation in the murine Opa3 gene models human Costeff syndrome. Brain 131:368-380
-
(2008)
Brain
, vol.131
, pp. 368-380
-
-
Davies, V.J.1
Powell, K.A.2
White, K.E.3
-
78
-
-
80054844842
-
ER tubules mark sites of mitochondrial division
-
Friedman JR, Lackner LL, West M, DiBenedetto JR, Nunnari J, Voeltz GK (2011) ER tubules mark sites of mitochondrial division. Science 334:358-362
-
(2011)
Science
, vol.334
, pp. 358-362
-
-
Friedman, J.R.1
Lackner, L.L.2
West, M.3
Dibenedetto, J.R.4
Nunnari, J.5
Voeltz, G.K.6
-
79
-
-
34247525092
-
A lethal defect of mitochondrial and peroxisomal fission
-
Waterham HR, Koster J, van RoermundCWT, Mooyer PAW, Wanders RJA, Leonard JV (2007) A lethal defect of mitochondrial and peroxisomal fission. N Engl J Med 356:1736-1741
-
(2007)
N Engl J Med
, vol.356
, pp. 1736-1741
-
-
Waterham, H.R.1
Koster, J.2
Van Roermund, C.W.T.3
Mooyer, P.A.W.4
Wanders, R.J.A.5
Leonard, J.V.6
-
80
-
-
77957798188
-
A lethal de novo mutation in the middle domain of the dynamin-relatedGTPase Drp1 impairs higher order assembly and mitochondrial division
-
Chang CR, Manlandro CM, Arnoult D et al (2010) A lethal de novo mutation in the middle domain of the dynamin-relatedGTPase Drp1 impairs higher order assembly and mitochondrial division. J Biol Chem 285:32494-32503
-
(2010)
J Biol Chem
, vol.285
, pp. 32494-32503
-
-
Chang, C.R.1
Manlandro, C.M.2
Arnoult, D.3
-
81
-
-
67649390851
-
Diagnosis, natural history, and management of Charcot-Marie-Tooth disease
-
Pareyson D, Marchesi C (2009) Diagnosis, natural history, and management of Charcot- Marie-Tooth disease. Lancet Neurol 8:654-667
-
(2009)
Lancet Neurol
, vol.8
, pp. 654-667
-
-
Pareyson, D.1
Marchesi, C.2
-
82
-
-
33645276591
-
Mechanisms of disease: A molecular genetic update on hereditary axonal neuropathies
-
Zuchner S, Vance JM (2006) Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies. Nat Clin Pract Neurol 2:45-53
-
(2006)
Nat Clin Pract Neurol
, vol.2
, pp. 45-53
-
-
Zuchner, S.1
Vance, J.M.2
-
84
-
-
2442589922
-
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
-
Zuchner S, Mersiyanova IV, Muglia M et al (2004) Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 36:449-451
-
(2004)
Nat Genet
, vol.36
, pp. 449-451
-
-
Zuchner, S.1
Mersiyanova, I.V.2
Muglia, M.3
-
85
-
-
32044474896
-
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2
-
Zuchner S, De Jonghe P, Jordanova A et al (2006) Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol 59:276-281
-
(2006)
Ann Neurol
, vol.59
, pp. 276-281
-
-
Zuchner, S.1
De Jonghe, P.2
Jordanova, A.3
-
86
-
-
67649803117
-
Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A
-
Cartoni R, Martinou JC (2009) Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. Exp Neurol 218:268-273
-
(2009)
Exp Neurol
, vol.218
, pp. 268-273
-
-
Cartoni, R.1
Martinou, J.C.2
-
87
-
-
0037455575
-
Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development
-
Chen HC, Detmer SA, Ewald AJ, Griffin EE, Fraser SE, Chan DC (2003) Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development. J Cell Biol 160:189-200
-
(2003)
J Cell Biol
, vol.160
, pp. 189-200
-
-
Chen, H.C.1
Detmer, S.A.2
Ewald, A.J.3
Griffin, E.E.4
Fraser, S.E.5
Chan, D.C.6
-
88
-
-
38349185051
-
Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A
-
Detmer SA, Velde CV, Cleveland DW, Chan DC (2008) Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A. Hum Mol Genet 17:367-375
-
(2008)
Hum Mol Genet
, vol.17
, pp. 367-375
-
-
Detmer, S.A.1
Velde, C.V.2
Cleveland, D.W.3
Chan, D.C.4
-
89
-
-
34547601410
-
Mitochondrial fusion protects against neurodegeneration in the cerebellum
-
Chen H, McCaffery JM, Chan DC (2007) Mitochondrial fusion protects against neurodegeneration in the cerebellum. Cell 130:548-562
-
(2007)
Cell
, vol.130
, pp. 548-562
-
-
Chen, H.1
McCaffery, J.M.2
Chan, D.C.3
-
90
-
-
79955658108
-
Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation
-
Guillet V, Gueguen N, Cartoni R et al (2011) Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation. Faseb J 25:1618-1627
-
(2011)
Faseb J
, vol.25
, pp. 1618-1627
-
-
Guillet, V.1
Gueguen, N.2
Cartoni, R.3
-
91
-
-
33846952150
-
Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations
-
Detmer SA, Chan DC (2007) Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations. J Cell Biol 176:405-414
-
(2007)
J Cell Biol
, vol.176
, pp. 405-414
-
-
Detmer, S.A.1
Chan, D.C.2
-
92
-
-
34247638936
-
Mitochondrial coupling defect in charcot-marie-tooth type 2A disease
-
Loiseau D, Chevrollier A, Verny C et al (2007) Mitochondrial coupling defect in Charcot- Marie-Tooth type 2A disease. Ann Neurol 61:315-323
-
(2007)
Ann Neurol
, vol.61
, pp. 315-323
-
-
Loiseau, D.1
Chevrollier, A.2
Verny, C.3
-
93
-
-
58149400349
-
Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction
-
Del Bo R, Moggio M, Rango M et al (2008) Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. Neurology 71:1959-1966
-
(2008)
Neurology
, vol.71
, pp. 1959-1966
-
-
Del Bo, R.1
Moggio, M.2
Rango, M.3
-
94
-
-
20444461625
-
The charcot-marie-tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system
-
Pich S, Bach D, Briones P et al (2005) The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system. Hum Mol Genet 14:1405-1415
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1405-1415
-
-
Pich, S.1
Bach, D.2
Briones, P.3
-
95
-
-
77951737783
-
Mitochondrial fusion is Rrquired for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations
-
Chen HC, Vermulst M, Wang YE et al (2010) Mitochondrial fusion is Rrquired for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations. Cell 141:280-289
-
(2010)
Cell
, vol.141
, pp. 280-289
-
-
Chen, H.C.1
Vermulst, M.2
Wang, Y.E.3
-
96
-
-
84856725391
-
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype
-
Rouzier C, Bannwarth S, Chaussenot A et al (2012) The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype. Brain 135:23-34
-
(2012)
Brain
, vol.135
, pp. 23-34
-
-
Rouzier, C.1
Bannwarth, S.2
Chaussenot, A.3
-
97
-
-
84856723741
-
Dysfunctional mitochondrial maintenance: What breaks the circle of life?
-
Yu-Wai-Man P, Chinnery PF (2012) Dysfunctional mitochondrial maintenance: what breaks the circle of life? Brain 135:9-11
-
(2012)
Brain
, vol.135
, pp. 9-11
-
-
Yu-Wai-Man, P.1
Chinnery, P.F.2
-
98
-
-
85193175878
-
-
Brain. Epub ahead of print. PMID:22492563
-
Sitarz KS, Yu-Wai-Man P, Pyle A, Stewart JD, Rautenstrauss B, Seeman P, Reilly MM, Horvath R, Chinnery PF (2012) MFN2 mutations cause compensatory mitochondrial DNA proliferation. Brain. Epub ahead of print. PMID:22492563
-
(2012)
MFN2 Mutations Cause Compensatory Mitochondrial DNA Proliferation
-
-
Sitarz, K.S.1
Yu-Wai-Man, P.2
Pyle, A.3
Stewart, J.D.4
Rautenstrauss, B.5
Seeman, P.6
Reilly, M.M.7
Horvath, R.8
Chinnery, P.F.9
-
99
-
-
18544385024
-
Ganglioside-induced differentiationassociated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
-
Baxter RV, Ben Othmane K, Rochelle JM et al (2002) Ganglioside-induced differentiationassociated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 30:21-22
-
(2002)
Nat Genet
, vol.30
, pp. 21-22
-
-
Baxter, R.V.1
Ben Othmane, K.2
Rochelle, J.M.3
-
100
-
-
20244374986
-
Genetics of charcot-marie-tooth disease type 4A: Mutations, inheritance, phenotypic variability, and founder effect
-
Claramunt R, Pedrola L, Sevilla T et al (2005) Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet 42:358-365
-
(2005)
J Med Genet
, vol.42
, pp. 358-365
-
-
Claramunt, R.1
Pedrola, L.2
Sevilla, T.3
-
101
-
-
80052917055
-
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
-
Zimon M, Baets J, FabriziGMet al (2011) Dominant GDAP1 mutations cause predominantly mild CMT phenotypes. Neurology 77:540-548
-
(2011)
Neurology
, vol.77
, pp. 540-548
-
-
Zimon, M.1
Baets, J.2
Fabrizi, G.M.3
-
102
-
-
70350348361
-
GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance
-
Niemann A, Wagner KM, Ruegg M, Suter U (2009) GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance. Neurobiol Dis 36:509-520
-
(2009)
Neurobiol Dis
, vol.36
, pp. 509-520
-
-
Niemann, A.1
Wagner, K.M.2
Ruegg, M.3
Suter, U.4
-
103
-
-
17744376804
-
GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria
-
Pedrola L, Espert A, Wu X, Claramunt R, Shy ME, Palau F (2005) GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet 14:1087-1094
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1087-1094
-
-
Pedrola, L.1
Espert, A.2
Wu, X.3
Claramunt, R.4
Shy, M.E.5
Palau, F.6
-
104
-
-
25444514731
-
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: New implications for Charcot-Marie-Tooth disease
-
Niemann A, Ruegg M, La PadulaV, Schenone A, Suter U (2005) Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J Cell Biol 170:1067-1078
-
(2005)
J Cell Biol
, vol.170
, pp. 1067-1078
-
-
Niemann, A.1
Ruegg, M.2
La Padula, V.3
Schenone, A.4
Suter, U.5
-
105
-
-
64149125383
-
Mitochondrial complex i deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)
-
Cassereau J, Chevrollier A, Gueguen N et al (2009) Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). Neurogenetics 10:145-150
-
(2009)
Neurogenetics
, vol.10
, pp. 145-150
-
-
Cassereau, J.1
Chevrollier, A.2
Gueguen, N.3
-
106
-
-
79960930133
-
Mitochondrial aging is accelerated by antiretroviral therapy through the clonal expansion of mtDNA mutations
-
Payne BA, Wilson IJ, Hateley CA et al (2011) Mitochondrial aging is accelerated by antiretroviral therapy through the clonal expansion of mtDNA mutations. Nat Genet 43:806-810
-
(2011)
Nat Genet
, vol.43
, pp. 806-810
-
-
Payne, B.A.1
Wilson, I.J.2
Hateley, C.A.3
-
107
-
-
33847248347
-
The mitochondrial bottleneck occurs without reduction of mtDNA content in female mouse germ cells
-
Cao LQ, Shitara H, HoriiT et al (2007) The mitochondrial bottleneck occurs without reduction of mtDNA content in female mouse germ cells. Nat Genet 39:386-390
-
(2007)
Nat Genet
, vol.39
, pp. 386-390
-
-
Cao, L.Q.1
Shitara, H.2
Horii, T.3
-
108
-
-
38649091334
-
A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes
-
Cree LM, Samuels DC, Lopes S et al (2008) A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes. Nat Genet 40:249-254
-
(2008)
Nat Genet
, vol.40
, pp. 249-254
-
-
Cree, L.M.1
Samuels, D.C.2
Lopes, S.3
-
109
-
-
38649116287
-
Two ways to make an mtDNA bottleneck
-
Khrapko K (2008) Two ways to make an mtDNA bottleneck. Nat Genet 40:134-135
-
(2008)
Nat Genet
, vol.40
, pp. 134-135
-
-
Khrapko, K.1
-
110
-
-
78651480831
-
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution
-
Elachouri G, Vidoni S, Zanna C et al (2011) OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution. Genome Res 21:12-20.
-
(2011)
Genome Res
, vol.21
, pp. 12-20
-
-
Elachouri, G.1
Vidoni, S.2
Zanna, C.3
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