-
1
-
-
38849192448
-
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotype
-
Amati-Bonneau P, Valentino M, Reynier P, Gallardo M, Bornstein B, Boissiè re A, et al. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotype. Brain 2008; 131: 338-51.
-
(2008)
Brain
, vol.131
, pp. 338-351
-
-
Amati-Bonneau, P.1
Valentino, M.2
Reynier, P.3
Gallardo, M.4
Bornstein, B.5
Boissière, A.6
-
2
-
-
84863229687
-
CHM1/CHCHD6, a novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology
-
An J, Shi J, He Q, Lui K, Liu Y, Huang Y, et a.l. CHM1/CHCHD6, a novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology. J Biol Chem 2012 287 7411-26.
-
(2012)
J Biol Chem
, vol.287
, pp. 7411-7426
-
-
An, J.1
Shi, J.2
He, Q.3
Lui, K.4
Liu, Y.5
Huang, Y.6
-
3
-
-
67349161391
-
The coiled coil-helix coilhelix proteins may be redox proteins
-
Banci L, Bertini I, Ciofi-Baffoni S, Tokatlidis K. The coiled coil-helix coilhelix proteins may be redox proteins. FEBS Lett 2009; 583: 1699-702.
-
(2009)
FEBS Lett
, vol.583
, pp. 1699-1702
-
-
Banci, L.1
Bertini, I.2
Ciofi-Baffoni, S.3
Tokatlidis, K.4
-
4
-
-
84866973678
-
Structural characterization of CHCHD5 and CHCHD7: Two atypical twin CX9C proteins
-
Banci L, Bertini I, Coffi-Baffoni S, Jaiswal D, Peruzzini R, Winkelman J. Structural characterization of CHCHD5 and CHCHD7: Two atypical twin CX9C proteins. J Struct Biol 2012; 180: 190-200.
-
(2012)
J Struct Biol
, Issue.180
, pp. 190-200
-
-
Banci, L.1
Bertini, I.2
Coffi-Baffoni, S.3
Jaiswal, D.4
Peruzzini, R.5
Winkelman, J.6
-
5
-
-
84869082982
-
The human MSH5 (MutS Homolog 5) gene localizes to mitochondria and protects the mitochondrial genome from oxidative damage
-
Bannwarth S, Figueroa A, Fragaki K, Destroismaisons L, Lacas-Gervais S, Lespinasse F, et al. The human MSH5 (MutS Homolog 5) gene localizes to mitochondria and protects the mitochondrial genome from oxidative damage. Mitochondrion 2012; 12: 654-65.
-
(2012)
Mitochondrion
, vol.12
, pp. 654-665
-
-
Bannwarth, S.1
Figueroa, A.2
Fragaki, K.3
Destroismaisons, L.4
Lacas-Gervais, S.5
Lespinasse, F.6
-
6
-
-
0017184389
-
A rapid and sensitive method for the quantitation of micrograms quantities of protein utilizing the principle of protein-dye binding
-
Bradford M. A rapid and sensitive method for the quantitation of micrograms quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 1976; 251: 69-72.
-
(1976)
Anal Biochem
, vol.251
, pp. 69-72
-
-
Bradford, M.1
-
7
-
-
83255188980
-
Superresolution fluorescence imaging of mitochondrial nucleoids reveals their spatial range, limits and membrane interaction
-
Brown TA, Tkachuk AN, Shtengel G, Kopek BG, Bogenhagen BF, Hess HF, et al. Superresolution fluorescence imaging of mitochondrial nucleoids reveals their spatial range, limits and membrane interaction. Mol Cell Biol 2011; 31: 4494-5010.
-
(2011)
Mol Cell Biol
, vol.31
, pp. 4494-5010
-
-
Brown, T.A.1
Tkachuk, A.N.2
Shtengel, G.3
Kopek, B.G.4
Bogenhagen, B.F.5
Hess, H.F.6
-
8
-
-
78149426219
-
Genome-wide analysis of eukaryotic twin CX9C proteins
-
Cavallo G. Genome-wide analysis of eukaryotic twin CX9C proteins. Mol Biosyst 2010; 6: 2459-70.
-
(2010)
Mol Biosyst
, vol.6
, pp. 2459-2470
-
-
Cavallo, G.1
-
9
-
-
77955287381
-
Physiological functions of mitochondrial fusion
-
Chen H, Chan D. Physiological functions of mitochondrial fusion. Ann N Y Acad Sci 2010; 1201: 21-5.
-
(2010)
Ann N Y Acad Sci
, vol.1201
, pp. 21-25
-
-
Chen, H.1
Chan, D.2
-
10
-
-
84884909413
-
Mitochondrial cristae shape determines respiratory chain supercomplexes and respiratory efficiency
-
Cogliati S, Frezza C, Soriano M, Varanita T, Quintana-Cabrera R, Corrado M, et al. Mitochondrial cristae shape determines respiratory chain supercomplexes and respiratory efficiency. Cell 2013; 155: 160-71.
-
(2013)
Cell
, vol.155
, pp. 160-171
-
-
Cogliati, S.1
Frezza, C.2
Soriano, M.3
Varanita, T.4
Quintana-Cabrera, R.5
Corrado, M.6
-
11
-
-
83755205842
-
Defects in mitochondrial DNA replication and human disease
-
Copeland W. Defects in mitochondrial DNA replication and human disease. Crit Rev Biochem Mol Biol 2012; 47: 64-74.
-
(2012)
Crit Rev Biochem Mol Biol
, vol.47
, pp. 64-74
-
-
Copeland, W.1
-
12
-
-
78951493639
-
ChChd3, an inner mitochondrial membrane protein, is essential for maintening crista integrity and mitochondrial function
-
Darshi M, Mendiola V, Mackey M, Murphy A, Koller A, Perkins G, et al. ChChd3, an inner mitochondrial membrane protein, is essential for maintening crista integrity and mitochondrial function. J Biol Chem 2011; 286: 2918-32.
-
(2011)
J Biol Chem
, vol.286
, pp. 2918-2932
-
-
Darshi, M.1
Mendiola, V.2
Mackey, M.3
Murphy, A.4
Koller, A.5
Perkins, G.6
-
13
-
-
84869227616
-
Targeting and import mechanism of coiled-coil helix coiled-coil helix domain-containing protein 3 (ChChd3) into the mitochondrial intermembrane space
-
Darshi M, Trinh K, Murphy A, Taylor S. Targeting and import mechanism of coiled-coil helix coiled-coil helix domain-containing protein 3 (ChChd3) into the mitochondrial intermembrane space. J Biol Chem 2012; 287: 39480-91.
-
(2012)
J Biol Chem
, vol.287
, pp. 39480-39491
-
-
Darshi, M.1
Trinh, K.2
Murphy, A.3
Taylor, S.4
-
14
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011; 72: 245-56.
-
(2011)
Neuron
, vol.72
, pp. 245-256
-
-
DeJesus-Hernandez, M.1
Mackenzie, I.R.2
Boeve, B.F.3
Boxer, A.L.4
Baker, M.5
Rutherford, N.J.6
-
15
-
-
20244381365
-
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
-
Delettre C, Laeners G, Griffoin J, 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
Laeners, G.2
Griffoin, J.3
Gigarel, N.4
Lorenzo, C.5
Belenguer, P.6
-
16
-
-
33745699393
-
OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion
-
Frezza C, Cipolat S, Martins De Brito O, Micaroni M, Beznoussenko G, Rudka T, et al. OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion. Cell 2006; 126: 177-89.
-
(2006)
Cell
, vol.126
, pp. 177-189
-
-
Frezza, C.1
Cipolat, S.2
Martins De Brito, O.3
Micaroni, M.4
Beznoussenko, G.5
Rudka, T.6
-
17
-
-
35649024143
-
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
-
Hakonen A, Isohanni P, Paetau A, Herva R, Suomalainen A, Lonngvist T. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain 2007; 130: 3032-40.
-
(2007)
Brain
, vol.130
, pp. 3032-3040
-
-
Hakonen, A.1
Isohanni, P.2
Paetau, A.3
Herva, R.4
Suomalainen, A.5
Lonngvist, T.6
-
18
-
-
38849151612
-
Mutation of OPA1 causes dominant optic atrophy with external ophtalmoplegia, ataxia, deafness, and multiple mitochondrial DNA deletions: A novel disorder of mtDNA maintenance
-
Hudson G, Amati-Bonneau P, Blakely E, Stewart J, He L, Schaefer A, et al. Mutation of OPA1 causes dominant optic atrophy with external ophtalmoplegia, ataxia, deafness, and multiple mitochondrial DNA deletions: 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.3
Stewart, J.4
He, L.5
Schaefer, A.6
-
19
-
-
84878437545
-
STED super-resolution microscopy reveals an array of MINOS clusters along human mitochondria
-
Jans D, Wurm C, Riedel D, Wenzel D, Stagge F, Deckers M, et al. STED super-resolution microscopy reveals an array of MINOS clusters along human mitochondria. PNAS 2013; 110: 8936-41.
-
(2013)
PNAS
, vol.110
, pp. 8936-8941
-
-
Jans, D.1
Wurm, C.2
Riedel, D.3
Wenzel, D.4
Stagge, F.5
Deckers, M.6
-
20
-
-
1242307475
-
Quantitation of mitochondrial dynamics by photolabeling of individual organelles shows that mitochondrial fusion is blocked during the Bax activation phase of apoptosis
-
Karbowski M, Arnoult D, Chen H, Chan DC, Smith CL, Youle RJ. Quantitation of mitochondrial dynamics by photolabeling of individual organelles shows that mitochondrial fusion is blocked during the Bax activation phase of apoptosis. J Cell Biol 2004; 164: 493-9.
-
(2004)
J Cell Biol
, vol.164
, pp. 493-499
-
-
Karbowski, M.1
Arnoult, D.2
Chen, H.3
Chan, D.C.4
Smith, C.L.5
Youle, R.J.6
-
21
-
-
63849246525
-
Protein structure prediction on the web: A case study using the Phyre server
-
Kelley L, Sternberg M. Protein structure prediction on the web: A case study using the Phyre server. Nat Protoc 2009; 4: 363-71.
-
(2009)
Nat Protoc
, vol.4
, pp. 363-371
-
-
Kelley, L.1
Sternberg, M.2
-
22
-
-
79959403545
-
Mechanistic analysis of a dna damage-induced pten-dependent size checkpoint in human cells
-
Kim JS, Xu X, Li H, Solomon D, Lane WS, Jin T, et al. Mechanistic analysis of a DNA damage-induced, PTEN-dependent size checkpoint in human cells. Mol Cell Biol 2011; 31: 2756-71.
-
(2011)
Mol Cell Biol
, vol.31
, pp. 2756-2771
-
-
Kim, J.S.1
Xu, X.2
Li, H.3
Solomon, D.4
Lane, W.S.5
Jin, T.6
-
23
-
-
3843075121
-
Structural basis of mitochondrial tethering by mitofusin complexes
-
Koshiba T, Detmer S, Kaiser J, Chen H, McCaffery M, Chan D. Structural basis of mitochondrial tethering by mitofusin complexes. Science 2004; 305: 858-62.
-
(2004)
Science
, vol.305
, pp. 858-862
-
-
Koshiba, T.1
Detmer, S.2
Kaiser, J.3
Chen, H.4
McCaffery, M.5
Chan, D.6
-
24
-
-
70349423394
-
Systematic analysis of the twin cx(9)c protein family
-
Longen S, Bien M, Bihlmaier K, Kloeppel C, Kauff F, Hammermeister M, et al. Systematic analysis of the twin cx(9)c protein family. J Mol Biol 2009; 393: 356-68.
-
(2009)
J Mol Biol
, vol.393
, pp. 356-368
-
-
Longen, S.1
Bien, M.2
Bihlmaier, K.3
Kloeppel, C.4
Kauff, F.5
Hammermeister, M.6
-
25
-
-
78149465520
-
Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association
-
Martherus RS, Sluiter W, Timmer ED, VanHerle SJ, Smeets HJ, Ayoubi TA. Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association. Biochem Biophys Res Com 2010; 402: 203-8.
-
(2010)
Biochem Biophys Res Com
, vol.402
, pp. 203-208
-
-
Martherus, R.S.1
Sluiter, W.2
Timmer, E.D.3
VanHerle, S.J.4
Smeets, H.J.5
Ayoubi, T.A.6
-
26
-
-
4544378532
-
Mitochondrial fusion intermediates revealed in vitro
-
Meeusen S, McCaffery M, Nunnari J. Mitochondrial fusion intermediates revealed in vitro. Science 2004; 305: 1747-52.
-
(2004)
Science
, vol.305
, pp. 1747-1752
-
-
Meeusen, S.1
McCaffery, M.2
Nunnari, J.3
-
27
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophtalmoplegia and Kearns-Sayre syndrome
-
Moraes C, DiMauro S, Zeviani M, Lombes A, Shanske S, Miranda A, et al. Mitochondrial DNA deletions in progressive external ophtalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989; 18: 1293-9.
-
(1989)
N Engl J Med
, vol.18
, pp. 1293-1299
-
-
Moraes, C.1
DiMauro, S.2
Zeviani, M.3
Lombes, A.4
Shanske, S.5
Miranda, A.6
-
28
-
-
33746381946
-
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by dHPLC-based assay
-
Naimi M, Bannwarth S, Procaccio V, Pouget J, Desnuelle C, Pellissier J, et al. Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by dHPLC-based assay. Eur J Hum Genet 2006; 14: 917-22.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 917-922
-
-
Naimi, M.1
Bannwarth, S.2
Procaccio, V.3
Pouget, J.4
Desnuelle, C.5
Pellissier, J.6
-
29
-
-
0029882006
-
Rapid mapping of mitochondrial DNA deletions by large-fragment PCR
-
Paul R, Santucci S, Sauniè res S, Desnuelle C, Paquis-Flucklinger V. Rapid mapping of mitochondrial DNA deletions by large-fragment PCR. Trends Genet 1996; 12: 131-2.
-
(1996)
Trends Genet
, vol.12
, pp. 131-132
-
-
Paul, R.1
Santucci, S.2
Saunières, S.3
Desnuelle, C.4
Paquis-Flucklinger, V.5
-
30
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011; 72: 257-68.
-
(2011)
Neuron
, vol.72
, pp. 257-268
-
-
Renton, A.E.1
Majounie, E.2
Waite, A.3
Simon-Sanchez, J.4
Rollinson, S.5
Gibbs, J.R.6
-
31
-
-
84870180452
-
Next-generation sequencing reveals DGUOK mutations in adult patients with mtDNA deletions
-
Ronchi D, Garone C, Bordoni A, Rios PG, Calvo SE, Ripolone M, et al. Next-generation sequencing reveals DGUOK mutations in adult patients with mtDNA deletions. Brain 2012; 135: 3404-15.
-
(2012)
Brain
, vol.135
, pp. 3404-3415
-
-
Ronchi, D.1
Garone, C.2
Bordoni, A.3
Rios, P.G.4
Calvo, S.E.5
Ripolone, M.6
-
32
-
-
84856725391
-
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype
-
Rouzier C, Bannwarth S, Chaussenot A, Chevrollier A, Verschueren A, Bonello-Palot N, et al. The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype. Brain 2012; 135: 23-34.
-
(2012)
Brain
, vol.135
, pp. 23-34
-
-
Rouzier, C.1
Bannwarth, S.2
Chaussenot, A.3
Chevrollier, A.4
Verschueren, A.5
Bonello-Palot, N.6
-
33
-
-
77957772054
-
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein
-
Rouzier C, Le Guédard-Méreuze S, Fragaki K, Serre V, Miro J, Tuffery-Giraud S, et al. The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein. J Med Genet 2010; 47: 670-6.
-
(2010)
J Med Genet
, vol.47
, pp. 670-676
-
-
Rouzier, C.1
Le Guédard-Méreuze, S.2
Fragaki, K.3
Serre, V.4
Miro, J.5
Tuffery-Giraud, S.6
-
34
-
-
0027931039
-
Biochemical and molecular investigations in respiratory chain deficiencies
-
Rustin P, Chretien D, Bourgeron T, Gerard B, Rotig A, Saudubray J. Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chem Acta 1994; 228: 31-51.
-
(1994)
Clin Chem Acta
, vol.228
, pp. 31-51
-
-
Rustin, P.1
Chretien, D.2
Bourgeron, T.3
Gerard, B.4
Rotig, A.5
Saudubray, J.6
-
35
-
-
0035851099
-
The ratio of oxidative phosphorylation complexes I-IV in bovine heart mitochondria and the composition of respiratory chain supercomplexes
-
Schägger H, Pfeiffer K. The ratio of oxidative phosphorylation complexes I-IV in bovine heart mitochondria and the composition of respiratory chain supercomplexes. J Biol Chem 2001 276 37861-7
-
(2001)
J Biol Chem
, vol.276
, pp. 37861-37867
-
-
Schägger, H.1
Pfeiffer, K.2
-
36
-
-
84860840558
-
Mitochondrial diseases
-
Shapira A. Mitochondrial diseases. Lancet 2012; 379: 1825-34.
-
(2012)
Lancet
, vol.379
, pp. 1825-1834
-
-
Shapira, A.1
-
37
-
-
68149103297
-
Mitofusins and OPA1 mediate sequential steps in mitochondrial membrane fusion
-
Song Z, Ghochani M, McCaffery M, Frey T, Chan D. Mitofusins and OPA1 mediate sequential steps in mitochondrial membrane fusion. Mol Biol Cell 2009; 20: 3525-32.
-
(2009)
Mol Biol Cell
, vol.20
, pp. 3525-3532
-
-
Song, Z.1
Ghochani, M.2
McCaffery, M.3
Frey, T.4
Chan, D.5
-
38
-
-
84861329438
-
The MIA pathway: A tight bond between protein transport and oxidative folding in mitochondria
-
Stojanovski D, Bragozewski P, Chacinska A. The MIA pathway: A tight bond between protein transport and oxidative folding in mitochondria. Biochim Biophys Acta 2012; 1823: 1142-50.
-
(2012)
Biochim Biophys Acta
, vol.1823
, pp. 1142-1150
-
-
Stojanovski, D.1
Bragozewski, P.2
Chacinska, A.3
-
39
-
-
77954035632
-
Mitochondrial DNA depletion syndromesmany genes, common mechanisms
-
Suomalainen A, Isohanni P. Mitochondrial DNA depletion syndromesmany genes, common mechanisms. Neuromuscul Disord 2010; 20: 429-37.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 429-437
-
-
Suomalainen, A.1
Isohanni, P.2
-
40
-
-
0015620349
-
A technique for ultracryotomy of cell suspensions and tissues
-
Tokuyasu T. A. A technique for ultracryotomy of cell suspensions and tissues. J Cell Biol 1973; 57: 551-65.
-
(1973)
J Cell Biol
, vol.57
, pp. 551-565
-
-
Tokuyasu, T.A.1
-
42
-
-
70349944660
-
The dynamin-related GTPase Drp1 is required for embryonic and brain development in mice
-
Wakabayashi J, Zhang Z, Wakabayashi N, Tamura Y, Fukaya M, Kensler TW, et al. The dynamin-related GTPase Drp1 is required for embryonic and brain development in mice. J Cell Biol 2009; 186: 805-16.
-
(2009)
J Cell Biol
, vol.186
, pp. 805-816
-
-
Wakabayashi, J.1
Zhang, Z.2
Wakabayashi, N.3
Tamura, Y.4
Fukaya, M.5
Kensler, T.W.6
-
43
-
-
84856284594
-
Mechanisms of mitochondrial disease
-
Ylikallio E, Suomalainen A. Mechanisms of mitochondrial disease. Ann Med 2012; 44: 41-59.
-
(2012)
Ann Med
, vol.44
, pp. 41-59
-
-
Ylikallio, E.1
Suomalainen, A.2
-
44
-
-
38849190029
-
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion
-
Zanna C, Ghelli A, Porcelli A, Karbowski M, Youle R, 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.3
Karbowski, M.4
Youle, R.5
Schimpf, S.6
-
45
-
-
56349166020
-
Cristae formation-linking ultrastructure and function of mitochondria
-
Zick M, Rabl R, Reichert A. Cristae formation-linking ultrastructure and function of mitochondria. Biochim Biophys Acta 2009; 1793: 5-19.
-
(2009)
Biochim Biophys Acta
, vol.1793
, pp. 5-19
-
-
Zick, M.1
Rabl, R.2
Reichert, A.3
-
46
-
-
2442589922
-
Mutations in the mitochondrial gtpase mitofusin 2 cause charcot-marie-tooth neuropathy type 2a
-
Zuchner S, Mersiyanova I, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali E, et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004; 36: 459-1.
-
(2004)
Nat Genet
, vol.36
, pp. 459-451
-
-
Zuchner, S.1
Mersiyanova, I.2
Muglia, M.3
Bissar-Tadmouri, N.4
Rochelle, J.5
Dadali, E.6
|