-
1
-
-
0033772264
-
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
-
Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 2000; 26: 211-5.
-
(2000)
Nat Genet
, vol.26
, pp. 211-215
-
-
Alexander, C.1
Votruba, M.2
Pesch, U.E.3
Thiselton, D.L.4
Mayer, S.5
Moore, A.6
-
2
-
-
38849192448
-
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes
-
Amati-Bonneau P, Valentino ML, Reynier P, Gallardo E, Bornstein B, Boissière A, et al. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain 2008; 131: 338-51.
-
(2008)
Brain
, vol.131
, pp. 338-351
-
-
Amati-Bonneau, P.1
Valentino, M.L.2
Reynier, P.3
Gallardo, E.4
Bornstein, B.5
Boissière, A.6
-
3
-
-
38849204027
-
The layered structure of human mtDNA nucleoids
-
Epub ahead of print
-
Bogenhagen DF, Rousseau D, Burke S. The layered structure of human mtDNA nucleoids. J Biol Chem 2007; [Epub ahead of print].
-
(2007)
J Biol Chem
-
-
Bogenhagen, D.F.1
Rousseau, D.2
Burke, S.3
-
4
-
-
33947360806
-
Autosomal dominant optic atrophy: Penetrance and expressivity in patients with OPA1 mutations
-
Cohn AC, Toomes C, Potter C, Towns KV, Hewitt AW, Inglehearn CF, et al. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Am J Ophthalmol 2007; 143: 656-62.
-
(2007)
Am J Ophthalmol
, vol.143
, pp. 656-662
-
-
Cohn, A.C.1
Toomes, C.2
Potter, C.3
Towns, K.V.4
Hewitt, A.W.5
Inglehearn, C.F.6
-
5
-
-
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, Yip W, Davies JR, White KE, et al. Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function. Hum Mol Genet 2007; 16: 1307-18.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 1307-1318
-
-
Davies, V.J.1
Hollins, A.J.2
Piechota, M.J.3
Yip, W.4
Davies, J.R.5
White, K.E.6
-
6
-
-
38849112595
-
A missense mutation in the murine Opa3 gene models human Costeff syndrome
-
Davies VJ, Powell KA, White KE, Yip W, Hogan V, Hollins AJ, et al. A missense mutation in the murine Opa3 gene models human Costeff syndrome. Brain 2008; 131: 368-80.
-
(2008)
Brain
, vol.131
, pp. 368-380
-
-
Davies, V.J.1
Powell, K.A.2
White, K.E.3
Yip, W.4
Hogan, V.5
Hollins, A.J.6
-
7
-
-
20244381365
-
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
-
Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 2000; 26: 207-10.
-
(2000)
Nat Genet
, vol.26
, pp. 207-210
-
-
Delettre, C.1
Lenaers, G.2
Griffoin, J.M.3
Gigarel, N.4
Lorenzo, C.5
Belenguer, P.6
-
8
-
-
38849088480
-
-
Detmer SA, Velde CV, Cleveland DW, Chan DC. 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 2007[Epub ahead of print].
-
Detmer SA, Velde CV, Cleveland DW, Chan DC. 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 2007[Epub ahead of print].
-
-
-
-
9
-
-
33845976357
-
Proteolytic processing of OPA1 links mitochondrial dysfunction to alterations in mitochondrial morphology
-
Duvezin-Caubet S, Jagasia R, Wagener J, Hofmann S, Trifunovic A, Hansson A, et al. Proteolytic processing of OPA1 links mitochondrial dysfunction to alterations in mitochondrial morphology. J Biol Chem 2006; 281: 37972-9.
-
(2006)
J Biol Chem
, vol.281
, pp. 37972-37979
-
-
Duvezin-Caubet, S.1
Jagasia, R.2
Wagener, J.3
Hofmann, S.4
Trifunovic, A.5
Hansson, A.6
-
10
-
-
34548349869
-
OPA1 processing reconstituted in yeast depends on the subunit composition of the m-AAA protease in mitochondria
-
Duvezin-Caubet S, Koppen M, Wagener J, Zick M, Israel L, Bernacchia A, et al. OPA1 processing reconstituted in yeast depends on the subunit composition of the m-AAA protease in mitochondria. Mol Biol Cell 2007; 18: 3582-90.
-
(2007)
Mol Biol Cell
, vol.18
, pp. 3582-3590
-
-
Duvezin-Caubet, S.1
Koppen, M.2
Wagener, J.3
Zick, M.4
Israel, L.5
Bernacchia, A.6
-
11
-
-
20144388894
-
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA
-
Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, Carrara F, et al. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 2005; 128 (Pt 4): 723-31.
-
(2005)
Brain
, vol.128
, Issue.PART 4
, pp. 723-731
-
-
Ferrari, G.1
Lamantea, E.2
Donati, A.3
Filosto, M.4
Briem, E.5
Carrara, F.6
-
12
-
-
38849193178
-
-
Harvey W. Letter to Dr. John Vlackveld. April 24 1657.
-
Harvey W. Letter to Dr. John Vlackveld. April 24 1657.
-
-
-
-
13
-
-
0035782695
-
Defects of intergenomic communication: Autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA
-
Hirano M, Marti R, Ferreiro-Barros C, Vilà MR, Tadesse S, Nishigaki Y, et al. Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA. Semin Cell Dev Biol 2001; 12: 417-27.
-
(2001)
Semin Cell Dev Biol
, vol.12
, pp. 417-427
-
-
Hirano, M.1
Marti, R.2
Ferreiro-Barros, C.3
Vilà, M.R.4
Tadesse, S.5
Nishigaki, Y.6
-
14
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
-
Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988; 331: 717-9.
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
15
-
-
33745713884
-
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene
-
Horvath R, Hudson G, Ferrari G, Futterer N, Ahola S, Lamantea E, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 2006; 129: 1674-84.
-
(2006)
Brain
, vol.129
, pp. 1674-1684
-
-
Horvath, R.1
Hudson, G.2
Ferrari, G.3
Futterer, N.4
Ahola, S.5
Lamantea, E.6
-
16
-
-
38849151612
-
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNAdeletions: A novel disorder of mtDNA maintenance
-
Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, et al. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNAdeletions: a novel disorder of mtDNA maintenance. Brain 2008; 131: 329-37.
-
(2008)
Brain
, vol.131
, pp. 329-337
-
-
Hudson, G.1
Amati-Bonneau, P.2
Blakely, E.L.3
Stewart, J.D.4
He, L.5
Schaefer, A.M.6
-
17
-
-
0034604506
-
Role of adenine nucleotide translocator 1 in mtDNA maintenance
-
Kaukonen J, Juselius JK, Tiranti V, Kyttala A, Zeviani M, Comi GP, et al. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000; 289: 782-5.
-
(2000)
Science
, vol.289
, pp. 782-785
-
-
Kaukonen, J.1
Juselius, J.K.2
Tiranti, V.3
Kyttala, A.4
Zeviani, M.5
Comi, G.P.6
-
18
-
-
84924064715
-
Infantile optic atrophy with dominant mode of inheritance: A clinical and genetic study of 19 Danish families
-
Kjer P. Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthalmol Scand 1959; 37: 1-146.
-
(1959)
Acta Ophthalmol Scand
, vol.37
, pp. 1-146
-
-
Kjer, P.1
-
19
-
-
0036327184
-
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
-
Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, et al. Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol 2002; 52: 211-9.
-
(2002)
Ann Neurol
, vol.52
, pp. 211-219
-
-
Lamantea, E.1
Tiranti, V.2
Bordoni, A.3
Toscano, A.4
Bono, F.5
Servidei, S.6
-
20
-
-
6344274848
-
Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis
-
Lee YJ, Jeong SY, Karbowski M, Smith CL, Youle RJ. Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis. Mol Biol Cell 2004; 15: 5001-11.
-
(2004)
Mol Biol Cell
, vol.15
, pp. 5001-5011
-
-
Lee, Y.J.1
Jeong, S.Y.2
Karbowski, M.3
Smith, C.L.4
Youle, R.J.5
-
21
-
-
33646859687
-
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia
-
Longley MJ, Clark S, Yu Wai Man C, Hudson G, Durham SE, Taylor RW, et al. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet 2006; 78: 1026-34.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 1026-1034
-
-
Longley, M.J.1
Clark, S.2
Yu3
Wai Man, C.4
Hudson, G.5
Durham, S.E.6
Taylor, R.W.7
-
22
-
-
0025044656
-
Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA
-
Mita S, Rizzuto R, Moraes CT, Shanske S, Arnaudo E, Fabrizi GM, et al. Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res 1990; 18: 561-7.
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 561-567
-
-
Mita, S.1
Rizzuto, R.2
Moraes, C.T.3
Shanske, S.4
Arnaudo, E.5
Fabrizi, G.M.6
-
23
-
-
0024398752
-
Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome
-
Mita S, Schmidt B, Schon EA, DiMauro S, Bonilla E. Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome. Proc Natl Acad Sci USA 1989; 86: 9509-13.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 9509-9513
-
-
Mita, S.1
Schmidt, B.2
Schon, E.A.3
DiMauro, S.4
Bonilla, E.5
-
24
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Moraes CT, DiMauro S, Zeviani M, Lombes A, Shanske S, Miranda AF, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989; 320: 1293-9.
-
(1989)
N Engl J Med
, vol.320
, pp. 1293-1299
-
-
Moraes, C.T.1
DiMauro, S.2
Zeviani, M.3
Lombes, A.4
Shanske, S.5
Miranda, A.F.6
-
25
-
-
0029834809
-
Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia
-
Moslemi AR, Melberg A, Holme E, Oldfors A. Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia. Ann Neurol 1996; 40: 707-13.
-
(1996)
Ann Neurol
, vol.40
, pp. 707-713
-
-
Moslemi, A.R.1
Melberg, A.2
Holme, E.3
Oldfors, A.4
-
26
-
-
27644453469
-
POLG mutations in Alpers syndrome
-
Nguyen KV, Østergaard E, Ravn SH, Balslev T, Danielsen ER, Vardag A, et al. POLG mutations in Alpers syndrome. Neurology 2005; 65: 1493-5.
-
(2005)
Neurology
, vol.65
, pp. 1493-1495
-
-
Nguyen, K.V.1
Østergaard, E.2
Ravn, S.H.3
Balslev, T.4
Danielsen, E.R.5
Vardag, A.6
-
27
-
-
85047694201
-
Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency
-
Nishigaki Y, Martí R, Copeland WC, Hirano M. Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. J Clin Invest 2003; 111: 1913-1921.
-
(2003)
J Clin Invest
, vol.111
, pp. 1913-1921
-
-
Nishigaki, Y.1
Martí, R.2
Copeland, W.C.3
Hirano, M.4
-
28
-
-
0033613865
-
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
-
Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999; 283: 689-92.
-
(1999)
Science
, vol.283
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
29
-
-
0037424239
-
Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis
-
Olichon A, Baricault L, Gas N, Guillou E, Valette A, Belenguer P, et al. Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. J Biol Chem 2003; 278: 7743-6.
-
(2003)
J Biol Chem
, vol.278
, pp. 7743-7746
-
-
Olichon, A.1
Baricault, L.2
Gas, N.3
Guillou, E.4
Valette, A.5
Belenguer, P.6
-
30
-
-
0037125183
-
The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space
-
Olichon A, Emorine LJ, Descoins E, Pelloquin L, Brichese L, Gas N, et al. The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space. FEBS Lett 2002; 523: 171-6.
-
(2002)
FEBS Lett
, vol.523
, pp. 171-176
-
-
Olichon, A.1
Emorine, L.J.2
Descoins, E.3
Pelloquin, L.4
Brichese, L.5
Gas, N.6
-
31
-
-
0043095416
-
Cells lacking Pcp1p/Ugo2p, a rhomboid-like protease required for Mgm1p processing, lose mtDNA and mitochondrial structure in a Dnm1p-dependent manner, but remain competent for mitochondrial fusion
-
Sesaki H, Southard SM, Hobbs AE, Jensen RE. Cells lacking Pcp1p/Ugo2p, a rhomboid-like protease required for Mgm1p processing, lose mtDNA and mitochondrial structure in a Dnm1p-dependent manner, but remain competent for mitochondrial fusion. Biochem Biophys Res Commun 2003; 308: 276-83.
-
(2003)
Biochem Biophys Res Commun
, vol.308
, pp. 276-283
-
-
Sesaki, H.1
Southard, S.M.2
Hobbs, A.E.3
Jensen, R.E.4
-
32
-
-
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, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 2001; 28: 223-31.
-
(2001)
Nat Genet
, vol.28
, pp. 223-231
-
-
Spelbrink, J.N.1
Li, F.Y.2
Tiranti, V.3
Nikali, K.4
Yuan, Q.P.5
Tariq, M.6
-
33
-
-
34250662313
-
Disorders of nuclear-mitochondrial communication
-
Spinazzola A, Zeviani M. Disorders of nuclear-mitochondrial communication. Biosci Rep 2007; 1-3: 39-51.
-
(2007)
Biosci Rep
-
-
Spinazzola, A.1
Zeviani, M.2
-
34
-
-
33745685519
-
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: A study of 26 cases
-
Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Winterthun S, et al. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 2006; 129 (Pt 7): 1685-92.
-
(2006)
Brain
, vol.129
, Issue.PART 7
, pp. 1685-1692
-
-
Tzoulis, C.1
Engelsen, B.A.2
Telstad, W.3
Aasly, J.4
Zeviani, M.5
Winterthun, S.6
-
35
-
-
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. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001; 28: 211-2.
-
(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
-
36
-
-
33748746678
-
Human mitochondrial DNA nucleoids are linked to protein folding machinery and metabolic enzymes at the mitochondrial inner membrane
-
Wang Y, Bogenhagen DF. Human mitochondrial DNA nucleoids are linked to protein folding machinery and metabolic enzymes at the mitochondrial inner membrane. J Biol Chem 2006; 281: 25791-802.
-
(2006)
J Biol Chem
, vol.281
, pp. 25791-25802
-
-
Wang, Y.1
Bogenhagen, D.F.2
-
37
-
-
38849190029
-
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion
-
Zanna C, Ghelli A, Porcelli AM, Karbowski M, Youle RJ, Schimpf S, et al. OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. Brain 2008; 131: 352-67.
-
(2008)
Brain
, vol.131
, pp. 352-367
-
-
Zanna, C.1
Ghelli, A.2
Porcelli, A.M.3
Karbowski, M.4
Youle, R.J.5
Schimpf, S.6
-
39
-
-
0025250482
-
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: A new autosomal dominant disease
-
Zeviani M, Bresolin N, Gellera C, Bordoni A, Pannacci M, Amati P, et al. Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. Am J Hum Genet 1990; 47: 904-14.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 904-914
-
-
Zeviani, M.1
Bresolin, N.2
Gellera, C.3
Bordoni, A.4
Pannacci, M.5
Amati, P.6
-
40
-
-
4944260285
-
Mitochondrial disorders
-
Zeviani M, Di Donato S. Mitochondrial disorders. Brain 2004; 127: 2153-72.
-
(2004)
Brain
, vol.127
, pp. 2153-2172
-
-
Zeviani, M.1
Di Donato, S.2
-
41
-
-
0023813744
-
Deletions of mitochondrial DNA in Kearns-Sayre syndrome
-
Zeviani M, Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988; 38: 1339-46.
-
(1988)
Neurology
, vol.38
, pp. 1339-1346
-
-
Zeviani, M.1
Moraes, C.T.2
DiMauro, S.3
Nakase, H.4
Bonilla, E.5
Schon, E.A.6
-
42
-
-
0024601360
-
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
-
Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989; 339: 309-11.
-
(1989)
Nature
, vol.339
, pp. 309-311
-
-
Zeviani, M.1
Servidei, S.2
Gellera, C.3
Bertini, E.4
DiMauro, S.5
DiDonato, S.6
|