-
1
-
-
0033607504
-
Molecular architecture of the rotary motor in ATP synthase
-
Stock, D., Leslie, A.G. and Walker, J.E. (1999) Molecular architecture of the rotary motor in ATP synthase. Science, 286, 1700-1705.
-
(1999)
Science
, vol.286
, pp. 1700-1705
-
-
Stock, D.1
Leslie, A.G.2
Walker, J.E.3
-
2
-
-
0032478354
-
F1-ATPase: a rotary motor made of a single molecule
-
Kinosita, K. Jr, Yasuda, R., Noji, H., Ishiwata, S. and Yoshida, M. (1998) F1-ATPase: a rotary motor made of a single molecule. Cell, 93, 21-24.
-
(1998)
Cell
, vol.93
, pp. 21-24
-
-
Kinosita K., Jr.1
Yasuda, R.2
Noji, H.3
Ishiwata, S.4
Yoshida, M.5
-
3
-
-
0030934380
-
Direct observation of the rotation of F1-ATPase
-
Noji, H., Yasuda, R., Yoshida, M. and Kinosita, K. Jr (1997) Direct observation of the rotation of F1-ATPase. Nature, 386, 299-302.
-
(1997)
Nature
, vol.386
, pp. 299-302
-
-
Noji, H.1
Yasuda, R.2
Yoshida, M.3
Kinosita K., Jr.4
-
4
-
-
0025267548
-
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
-
Holt, I.J., Harding, A.E., Petty, R.K.H. and Morgan-Hughes, J.A. (1990) A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am. J. Hum. Genet., 46, 428-433.
-
(1990)
Am. J. Hum. Genet.
, vol.46
, pp. 428-433
-
-
Holt, I.J.1
Harding, A.E.2
Petty, R.K.H.3
Morgan-Hughes, J.A.4
-
5
-
-
0027166021
-
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome
-
de Vries, D.D., van Engelen, B.G., Gabreels, F.J., Ruitenbeek, W. and van Oost, B.A. (1993) A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann. Neurol., 34, 410-412.
-
(1993)
Ann. Neurol.
, vol.34
, pp. 410-412
-
-
de Vries, D.D.1
van Engelen, B.G.2
Gabreels, F.J.3
Ruitenbeek, W.4
van Oost, B.A.5
-
6
-
-
0035853011
-
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome
-
Carrozzo, R., Tessa, A., Vazquez-Memije, M.E., Piemonte, F., Patrono, C., Malandrini, A., Dionisi-Vici, C., Vilarinho, L., Villanova, M., Schagger, H. et al. (2001) The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome. Neurology, 56, 687-690.
-
(2001)
Neurology
, vol.56
, pp. 687-690
-
-
Carrozzo, R.1
Tessa, A.2
Vazquez-Memije, M.E.3
Piemonte, F.4
Patrono, C.5
Malandrini, A.6
Dionisi-Vici, C.7
Vilarinho, L.8
Villanova, M.9
Schagger, H.10
-
7
-
-
0032712903
-
Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue-or age-related variation
-
White, S.L., Shanske, S., McGill, J.J., Mountain, H., Geraghty, M.T., DiMauro, S., Dahl, H.H. and Thorburn, D.R. (1999) Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue-or age-related variation. J. Inherit. Metab. Dis., 22, 899-914.
-
(1999)
J. Inherit. Metab. Dis.
, vol.22
, pp. 899-914
-
-
White, S.L.1
Shanske, S.2
McGill, J.J.3
Mountain, H.4
Geraghty, M.T.5
DiMauro, S.6
Dahl, H.H.7
Thorburn, D.R.8
-
8
-
-
0033362171
-
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993
-
White, S.L., Collins, V.R., Wolfe, R., Cleary, M.A., Shanske, S., DiMauro, S., Dahl, H.H. and Thorburn, D.R. (1999) Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993. Am. J. Hum. Genet., 65, 474-482.
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 474-482
-
-
White, S.L.1
Collins, V.R.2
Wolfe, R.3
Cleary, M.A.4
Shanske, S.5
DiMauro, S.6
Dahl, H.H.7
Thorburn, D.R.8
-
9
-
-
0028936818
-
Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome
-
Makela-Bengs, P., Suomalainen, A., Majander, A., Rapola, J., Kalimo, H., Nuutila, A. and Pihko, H. (1995) Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome. Pediatr. Res., 37, 634-639.
-
(1995)
Pediatr. Res.
, vol.37
, pp. 634-639
-
-
Makela-Bengs, P.1
Suomalainen, A.2
Majander, A.3
Rapola, J.4
Kalimo, H.5
Nuutila, A.6
Pihko, H.7
-
10
-
-
0030749664
-
Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families
-
Uziel, G., Moroni, I., Lamantea, E., Fratta, G.M., Ciceri, E., Carrara, F. and Zeviani, M. (1997) Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J. Neurol. Neurosurg. Psychiatry, 63, 16-22.
-
(1997)
J. Neurol. Neurosurg. Psychiatry
, vol.63
, pp. 16-22
-
-
Uziel, G.1
Moroni, I.2
Lamantea, E.3
Fratta, G.M.4
Ciceri, E.5
Carrara, F.6
Zeviani, M.7
-
11
-
-
33746503579
-
Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
-
Enns, G.M., Bai, R.K., Beck, A.E. and Wong, L.J. (2006) Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load. Mol. Genet. Metab., 88, 364-371.
-
(2006)
Mol. Genet. Metab.
, vol.88
, pp. 364-371
-
-
Enns, G.M.1
Bai, R.K.2
Beck, A.E.3
Wong, L.J.4
-
12
-
-
0034910899
-
High mitochondrial DNA T8993G mutation (90%) without typical features of Leigh's and NARP syndromes
-
Tsao, C.Y., Mendell, J.R. and Bartholomew, D. (2001) High mitochondrial DNA T8993G mutation (,90%) without typical features of Leigh's and NARP syndromes. J. Child Neurol., 16, 533-535.
-
(2001)
J. Child Neurol.
, vol.16
, pp. 533-535
-
-
Tsao, C.Y.1
Mendell, J.R.2
Bartholomew, D.3
-
13
-
-
0029877629
-
Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation
-
Santorelli, F.M., Mak, S.C., Vazquez-Memije, E., Shanske, S., Kranz-Eble, P., Jain, K.D., Bluestone, D.L., De Vivo, D.C. and DiMauro, S. (1996) Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation. Pediatr. Res., 39, 914-917.
-
(1996)
Pediatr. Res.
, vol.39
, pp. 914-917
-
-
Santorelli, F.M.1
Mak, S.C.2
Vazquez-Memije, E.3
Shanske, S.4
Kranz-Eble, P.5
Jain, K.D.6
Bluestone, D.L.7
De Vivo, D.C.8
DiMauro, S.9
-
14
-
-
0035782974
-
Pathogenesis of primary defects in mitochondrial ATP synthesis
-
Schon, E.A., Santra, S., Pallotti, F. and Girvin, M.E. (2001) Pathogenesis of primary defects in mitochondrial ATP synthesis. Semin. Cell. Dev. Biol., 12, 441-448.
-
(2001)
Semin. Cell. Dev. Biol.
, vol.12
, pp. 441-448
-
-
Schon, E.A.1
Santra, S.2
Pallotti, F.3
Girvin, M.E.4
-
15
-
-
0034635388
-
Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a
-
Baracca, A., Barogi, S., Carelli, V., Lenaz, G. and Solaini, G. (2000) Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a. J. Biol. Chem., 275, 4177-4182.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 4177-4182
-
-
Baracca, A.1
Barogi, S.2
Carelli, V.3
Lenaz, G.4
Solaini, G.5
-
16
-
-
1942453308
-
The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants
-
Mattiazzi, M., Vijayvergiya, C., Gajewski, C.D., DeVivo, D.C., Lenaz, G., Wiedmann, M. and Manfredi, G. (2004) The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants. Hum. Mol. Genet., 13, 869-879.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 869-879
-
-
Mattiazzi, M.1
Vijayvergiya, C.2
Gajewski, C.D.3
DeVivo, D.C.4
Lenaz, G.5
Wiedmann, M.6
Manfredi, G.7
-
17
-
-
33645576104
-
Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA
-
Sgarbi, G., Baracca, A., Lenaz, G., Valentino, L.M., Carelli, V. and Solaini, G. (2006) Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA. Biochem. J., 395, 493-500.
-
(2006)
Biochem. J.
, vol.395
, pp. 493-500
-
-
Sgarbi, G.1
Baracca, A.2
Lenaz, G.3
Valentino, L.M.4
Carelli, V.5
Solaini, G.6
-
18
-
-
0029006067
-
Altered properties of mitochondrial ATP-synthase in patients with a T-> G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA
-
Houstek, J., Klement, P., Hermanska, J., Houstkova, H., Hansikova, H., Van den Bogert, C. and Zeman, J. (1995) Altered properties of mitochondrial ATP-synthase in patients with a T->. G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA. Biochim. Biophys. Acta, 1271, 349-357.
-
(1995)
Biochim. Biophys. Acta
, vol.1271
, pp. 349-357
-
-
Houstek, J.1
Klement, P.2
Hermanska, J.3
Houstkova, H.4
Hansikova, H.5
Van den Bogert, C.6
Zeman, J.7
-
19
-
-
0035794142
-
Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene
-
Nijtmans, L.G., Henderson, N.S., Attardi, G. and Holt, I.J. (2001) Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene. J. Biol. Chem., 276, 6755-6762.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 6755-6762
-
-
Nijtmans, L.G.1
Henderson, N.S.2
Attardi, G.3
Holt, I.J.4
-
20
-
-
33645562421
-
Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations
-
Morava, E., Rodenburg, R.J., Hol, F., de Vries, M., Janssen, A., van den Heuvel, L., Nijtmans, L. and Smeitink, J. (2006) Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations. Am. J. Med. Genet. A, 140, 863-868.
-
(2006)
Am. J. Med. Genet. A
, vol.140
, pp. 863-868
-
-
Morava, E.1
Rodenburg, R.J.2
Hol, F.3
de Vries, M.4
Janssen, A.5
van den Heuvel, L.6
Nijtmans, L.7
Smeitink, J.8
-
21
-
-
32044475420
-
Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders
-
Carr1ozzo, R., Wittig, I., Santorelli, F.M., Bertini, E., Hofmann, S., Brandt, U. and Schagger, H. (2006) Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders. Ann. Neurol., 59, 265-275.
-
(2006)
Ann. Neurol.
, vol.59
, pp. 265-275
-
-
Carr1ozzo, R.1
Wittig, I.2
Santorelli, F.M.3
Bertini, E.4
Hofmann, S.5
Brandt, U.6
Schagger, H.7
-
22
-
-
33847702960
-
ATP6 homoplasmic mutations inhibit and destabilize the human F1F0 ATP-synthase without preventing enzyme assembly and oligomerization
-
Cortes-Hernandez, P., Vazquez-Memije, M.E. and Garcia, J.J. (2007) ATP6 homoplasmic mutations inhibit and destabilize the human F1F0 ATP-synthase without preventing enzyme assembly and oligomerization. J. Biol. Chem., 282, 1051-1058.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 1051-1058
-
-
Cortes-Hernandez, P.1
Vazquez-Memije, M.E.2
Garcia, J.J.3
-
23
-
-
0034646642
-
Structure, functioning, and assembly of the ATP synthase in cells from patients with the T8993G mitochondrial DNA mutation. Comparison with the enzyme in Rho0 cells completely lacking mtDNA
-
Garcia, J.J., Ogilvie, I., Robinson, B.H. and Capaldi, R.A. (2000) Structure, functioning, and assembly of the ATP synthase in cells from patients with the T8993G mitochondrial DNA mutation. Comparison with the enzyme in Rho0 cells completely lacking mtDNA. J. Biol. Chem., 275, 11075-11081.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 11075-11081
-
-
Garcia, J.J.1
Ogilvie, I.2
Robinson, B.H.3
Capaldi, R.A.4
-
24
-
-
0031738945
-
Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations
-
Vazquez-Memije, M.E., Shanske, S., Santorelli, F.M., Kranz-Eble, P., DeVivo, D.C. and DiMauro, S. (1998) Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations. J. Inherit. Metab. Dis., 21, 829-836.
-
(1998)
J. Inherit. Metab. Dis.
, vol.21
, pp. 829-836
-
-
Vazquez-Memije, M.E.1
Shanske, S.2
Santorelli, F.M.3
Kranz-Eble, P.4
DeVivo, D.C.5
DiMauro, S.6
-
25
-
-
10644245921
-
Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations
-
Pallotti, F., Baracca, A., Hernandez-Rosa, E., Walker, W.F., Solaini, G., Lenaz, G., Melzi D'Eril, G.V., Dimauro, S., Schon, E.A. and Davidson, M.M. (2004) Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations. Biochem. J., 384, 287-293.
-
(2004)
Biochem. J.
, vol.384
, pp. 287-293
-
-
Pallotti, F.1
Baracca, A.2
Hernandez-Rosa, E.3
Walker, W.F.4
Solaini, G.5
Lenaz, G.6
Melzi D'Eril, G.V.7
Dimauro, S.8
Schon, E.A.9
Davidson, M.M.10
-
26
-
-
34447106753
-
Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993
-
Baracca, A., Sgarbi, G., Mattiazzi, M., Casalena, G., Pagnotta, E., Valentino, M.L., Moggio, M., Lenaz, G., Carelli, V. and Solaini, G. (2007) Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993. Biochim. Biophys. Acta, 1767, 913-919.
-
(2007)
Biochim. Biophys. Acta
, vol.1767
, pp. 913-919
-
-
Baracca, A.1
Sgarbi, G.2
Mattiazzi, M.3
Casalena, G.4
Pagnotta, E.5
Valentino, M.L.6
Moggio, M.7
Lenaz, G.8
Carelli, V.9
Solaini, G.10
-
27
-
-
0036024974
-
Measurements of ATP in mammalian cells
-
Manfredi, G., Yang, L., Gajewski, C.D. and Mattiazzi, M. (2002) Measurements of ATP in mammalian cells. Methods, 26, 317-326.
-
(2002)
Methods
, vol.26
, pp. 317-326
-
-
Manfredi, G.1
Yang, L.2
Gajewski, C.D.3
Mattiazzi, M.4
-
28
-
-
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. and Moraes, C.T. (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
-
29
-
-
0033358741
-
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV
-
Bruno, C., Martinuzzi, A., Tang, Y., Andreu, A.L., Pallotti, F., Bonilla, E., Shanske, S., Fu, J., Sue, C.M., Angelini, 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
Martinuzzi, A.2
Tang, Y.3
Andreu, A.L.4
Pallotti, F.5
Bonilla, E.6
Shanske, S.7
Fu, J.8
Sue, C.M.9
Angelini, C.10
-
30
-
-
54049085790
-
The age lipid A2E and mitochondrial dysfunction synergistically impair phagocytosis by retinal pigment epithelial cells
-
Vives-Bauza, C., Anand, M., Shirazi, A.K., Magrane, J., Gao, J., Vollmer-Snarr, H.R., Manfredi, G. and Finnemann, S.C. (2008) The age lipid A2E and mitochondrial dysfunction synergistically impair phagocytosis by retinal pigment epithelial cells. J. Biol. Chem., 283, 24770-24780.
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 24770-24780
-
-
Vives-Bauza, C.1
Anand, M.2
Shirazi, A.K.3
Magrane, J.4
Gao, J.5
Vollmer-Snarr, H.R.6
Manfredi, G.7
Finnemann, S.C.8
-
31
-
-
0032868141
-
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
-
Andrews, R.M., Kubacka, I., Chinnery, P.F., Lightowlers, R.N., Turnbull, D.M. and Howell, N. (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat. Genet., 23, 147.
-
(1999)
Nat. Genet.
, vol.23
, pp. 147
-
-
Andrews, R.M.1
Kubacka, I.2
Chinnery, P.F.3
Lightowlers, R.N.4
Turnbull, D.M.5
Howell, N.6
-
32
-
-
33846094306
-
An enhanced MITOMAP with a global mtDNA mutational phylogeny
-
Ruiz-Pesini, E., Lott, M.T., Procaccio, V., Poole, J.C., Brandon, M.C., Mishmar, D., Yi, C., Kreuziger, J., Baldi, P. and Wallace, D.C. (2007) An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res., 35, D823-D828.
-
(2007)
Nucleic Acids Res.
, vol.35
-
-
Ruiz-Pesini, E.1
Lott, M.T.2
Procaccio, V.3
Poole, J.C.4
Brandon, M.C.5
Mishmar, D.6
Yi, C.7
Kreuziger, J.8
Baldi, P.9
Wallace, D.C.10
-
33
-
-
18344366125
-
Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups
-
Herrnstadt, C., Elson, J.L., Fahy, E., Preston, G., Turnbull, D.M., Anderson, C., Ghosh, S.S., Olefsky, J.M., Beal, M.F., Davis, R.E. et al. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am. J. Hum. Genet., 70, 1152-1171.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 1152-1171
-
-
Herrnstadt, C.1
Elson, J.L.2
Fahy, E.3
Preston, G.4
Turnbull, D.M.5
Anderson, C.6
Ghosh, S.S.7
Olefsky, J.M.8
Beal, M.F.9
Davis, R.E.10
-
34
-
-
0030468182
-
Classification of European mtDNAs from an analysis of three European populations
-
Torroni, A., Huoponen, K., Francalacci, P., Petrozzi, M., Morelli, L., Scozzari, R., Obinu, D., Savontaus, M.L. and Wallace, D.C. (1996) Classification of European mtDNAs from an analysis of three European populations. Genetics, 144, 1835-1850.
-
(1996)
Genetics
, vol.144
, pp. 1835-1850
-
-
Torroni, A.1
Huoponen, K.2
Francalacci, P.3
Petrozzi, M.4
Morelli, L.5
Scozzari, R.6
Obinu, D.7
Savontaus, M.L.8
Wallace, D.C.9
-
35
-
-
44049098233
-
Differences in mtDNA haplogroup distribution among 3 Jewish populations alter susceptibility to T2DM complications
-
Feder, J., Blech, I., Ovadia, O., Amar, S., Wainstein, J., Raz, I., Dadon, S., Arking, D.E., Glaser, B. and Mishmar, D. (2008) Differences in mtDNA haplogroup distribution among 3 Jewish populations alter susceptibility to T2DM complications. BMC Genomics, 9, 198.
-
(2008)
BMC Genomics
, vol.9
, pp. 198
-
-
Feder, J.1
Blech, I.2
Ovadia, O.3
Amar, S.4
Wainstein, J.5
Raz, I.6
Dadon, S.7
Arking, D.E.8
Glaser, B.9
Mishmar, D.10
-
36
-
-
0029029478
-
mtDNA mutations in Leber's hereditary optic neuropathy
-
Savontaus, M.L. (1995) mtDNA mutations in Leber's hereditary optic neuropathy. Biochim. Biophys. Acta, 1271, 261-263.
-
(1995)
Biochim. Biophys. Acta
, vol.1271
, pp. 261-263
-
-
Savontaus, M.L.1
-
37
-
-
0027360029
-
The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy
-
Huoponen, K., Lamminen, T., Juvonen, V., Aula, P., Nikoskelainen, E. and Savontaus, M.L. (1993) The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy. Hum. Genet., 92, 379-384.
-
(1993)
Hum. Genet.
, vol.92
, pp. 379-384
-
-
Huoponen, K.1
Lamminen, T.2
Juvonen, V.3
Aula, P.4
Nikoskelainen, E.5
Savontaus, M.L.6
-
38
-
-
0141920798
-
Association of the mitochondrial DNA 15497G/A polymorphism with obesity in a middle-aged and elderly Japanese population
-
Okura, T., Koda, M., Ando, F., Niino, N., Tanaka, M. and Shimokata, H. (2003) Association of the mitochondrial DNA 15497G/A polymorphism with obesity in a middle-aged and elderly Japanese population. Hum. Genet., 113, 432-436.
-
(2003)
Hum. Genet.
, vol.113
, pp. 432-436
-
-
Okura, T.1
Koda, M.2
Ando, F.3
Niino, N.4
Tanaka, M.5
Shimokata, H.6
-
39
-
-
0033888963
-
A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy
-
Andreu, A.L., Checcarelli, N., Iwata, S., Shanske, S. and DiMauro, S. (2000) A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy. Pediatr. Res., 48, 311-314.
-
(2000)
Pediatr. Res.
, vol.48
, pp. 311-314
-
-
Andreu, A.L.1
Checcarelli, N.2
Iwata, S.3
Shanske, S.4
DiMauro, S.5
-
40
-
-
20044364344
-
mtDNA mutations increase tumorigenicity in prostate cancer
-
Petros, J.A., Baumann, A.K., Ruiz-Pesini, E., Amin, M.B., Sun, C.Q., Hall, J., Lim, S., Issa, M.M., Flanders, W.D., Hosseini, S.H. et al. (2005) mtDNA mutations increase tumorigenicity in prostate cancer. Proc. Natl Acad. Sci. USA, 102, 719-724.
-
(2005)
Proc. Natl Acad. Sci. USA
, vol.102
, pp. 719-724
-
-
Petros, J.A.1
Baumann, A.K.2
Ruiz-Pesini, E.3
Amin, M.B.4
Sun, C.Q.5
Hall, J.6
Lim, S.7
Issa, M.M.8
Flanders, W.D.9
Hosseini, S.H.10
-
41
-
-
0026036025
-
Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy
-
Johns, D.R. and Berman, J. (1991) Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem. Biophys. Res. Commun., 174, 1324-1330.
-
(1991)
Biochem. Biophys. Res. Commun.
, vol.174
, pp. 1324-1330
-
-
Johns, D.R.1
Berman, J.2
-
42
-
-
19544369483
-
Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies
-
Ugalde, C., Vogel, R., Huijbens, R., Van Den Heuvel, B., Smeitink, J. and Nijtmans, L. (2004) Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies. Hum. Mol. Genet., 13, 2461-2472.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2461-2472
-
-
Ugalde, C.1
Vogel, R.2
Huijbens, R.3
Van Den Heuvel, B.4
Smeitink, J.5
Nijtmans, L.6
-
43
-
-
0029874964
-
Use of fibroblast and lymphoblast cultures for detection of respiratory chain defects
-
Robinson, B.H. (1996) Use of fibroblast and lymphoblast cultures for detection of respiratory chain defects. Methods Enzymol., 264, 454-464.
-
(1996)
Methods Enzymol.
, vol.264
, pp. 454-464
-
-
Robinson, B.H.1
-
44
-
-
0033039431
-
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia
-
Parfait, B., de Lonlay, P., von Kleist-Retzow, J.C., Cormier-Daire, V., Chretien, D., Rotig, A., Rabier, D., Saudubray, J.M., Rustin, P. and Munnich, A. (1999) The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia. Eur. J. Pediatr., 158, 55-58.
-
(1999)
Eur. J. Pediatr.
, vol.158
, pp. 55-58
-
-
Parfait, B.1
de Lonlay, P.2
von Kleist-Retzow, J.C.3
Cormier-Daire, V.4
Chretien, D.5
Rotig, A.6
Rabier, D.7
Saudubray, J.M.8
Rustin, P.9
Munnich, A.10
-
45
-
-
33745242989
-
Respiratory chain supercomplexes set the threshold for respiration defects in human mtDNA mutant cybrids
-
D'Aurelio, M., Gajewski, C.D., Lenaz, G. and Manfredi, G. (2006) Respiratory chain supercomplexes set the threshold for respiration defects in human mtDNA mutant cybrids. Hum. Mol. Genet., 15, 2157-2169.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 2157-2169
-
-
D'Aurelio, M.1
Gajewski, C.D.2
Lenaz, G.3
Manfredi, G.4
-
46
-
-
70350570664
-
Unusual findings in Leigh syndrome caused by T8993C mutation
-
Yis, U., Seneca, S., Dirik, E., Kurul, S.H., Ozer, E., Cakmakci, H. and De Meirleir, L. (2009) Unusual findings in Leigh syndrome caused by T8993C mutation. Eur. J. Paediatr. Neurol., 13, 550-552.
-
(2009)
Eur. J. Paediatr. Neurol.
, vol.13
, pp. 550-552
-
-
Yis, U.1
Seneca, S.2
Dirik, E.3
Kurul, S.H.4
Ozer, E.5
Cakmakci, H.6
De Meirleir, L.7
-
47
-
-
0031965039
-
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene
-
Dionisi-Vici, C., Seneca, S., Zeviani, M., Fariello, G., Rimoldi, M., Bertini, E. and De Meirleir, L. (1998) Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. J. Inherit. Metab. Dis., 21, 2-8.
-
(1998)
J. Inherit. Metab. Dis.
, vol.21
, pp. 2-8
-
-
Dionisi-Vici, C.1
Seneca, S.2
Zeviani, M.3
Fariello, G.4
Rimoldi, M.5
Bertini, E.6
De Meirleir, L.7
-
48
-
-
34548329866
-
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation
-
Debray, F.G., Lambert, M., Lortie, A., Vanasse, M. and Mitchell, G.A. (2007) Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation. Am. J. Med. Genet. A, 143A, 2046-2051.
-
(2007)
Am. J. Med. Genet. A
, vol.143 A
, pp. 2046-2051
-
-
Debray, F.G.1
Lambert, M.2
Lortie, A.3
Vanasse, M.4
Mitchell, G.A.5
-
49
-
-
0028788493
-
Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations
-
Brown, M.D., Torroni, A., Reckord, C.L. and Wallace, D.C. (1995) Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations. Hum. Mutat., 6, 311-325.
-
(1995)
Hum. Mutat.
, vol.6
, pp. 311-325
-
-
Brown, M.D.1
Torroni, A.2
Reckord, C.L.3
Wallace, D.C.4
-
50
-
-
16944363113
-
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
-
Torroni, A., Petrozzi, M., D'Urbano, L., Sellitto, D., Zeviani, M., Carrara, F., Carducci, C., Leuzzi, V., Carelli, V., Barboni, P. et al. (1997) Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am. J. Hum. Genet., 60, 1107-1121.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 1107-1121
-
-
Torroni, A.1
Petrozzi, M.2
D'Urbano, L.3
Sellitto, D.4
Zeviani, M.5
Carrara, F.6
Carducci, C.7
Leuzzi, V.8
Carelli, V.9
Barboni, P.10
-
51
-
-
0036487995
-
The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup
-
Brown, M.D., Starikovskaya, E., Derbeneva, O., Hosseini, S., Allen, J.C., Mikhailovskaya, I.E., Sukernik, R.I. and Wallace, D.C. (2002) The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup. J. Hum. Genet., 110, 130-138.
-
(2002)
J. Hum. Genet.
, vol.110
, pp. 130-138
-
-
Brown, M.D.1
Starikovskaya, E.2
Derbeneva, O.3
Hosseini, S.4
Allen, J.C.5
Mikhailovskaya, I.E.6
Sukernik, R.I.7
Wallace, D.C.8
-
52
-
-
34547796899
-
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
-
Hudson, G., Carelli, V., Spruijt, L., Gerards, M., Mowbray, C., Achilli, A., Pyle, A., Elson, J., Howell, N., La Morgia, C. et al. (2007) Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am. J. Hum. Genet., 81, 228-233.
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 228-233
-
-
Hudson, G.1
Carelli, V.2
Spruijt, L.3
Gerards, M.4
Mowbray, C.5
Achilli, A.6
Pyle, A.7
Elson, J.8
Howell, N.9
La Morgia, C.10
-
53
-
-
57049107271
-
Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease
-
Pello, R., Martin, M.A., Carelli, V., Nijtmans, L.G., Achilli, A., Pala, M., Torroni, A., Gomez-Duran, A., Ruiz-Pesini, E., Martinuzzi, A. et al. (2008) Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease. Hum. Mol. Genet., 17, 4001-4011.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 4001-4011
-
-
Pello, R.1
Martin, M.A.2
Carelli, V.3
Nijtmans, L.G.4
Achilli, A.5
Pala, M.6
Torroni, A.7
Gomez-Duran, A.8
Ruiz-Pesini, E.9
Martinuzzi, A.10
-
54
-
-
34548614520
-
Why do we still have a maternally inherited mitochondrial DNA? Insights from evolutionary medicine
-
Wallace, D.C. (2007) Why do we still have a maternally inherited mitochondrial DNA? Insights from evolutionary medicine. Annu. Rev. Biochem., 76, 781-821.
-
(2007)
Annu. Rev. Biochem.
, vol.76
, pp. 781-821
-
-
Wallace, D.C.1
-
55
-
-
0024448458
-
Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation
-
King, M.P. and 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
-
56
-
-
0033515548
-
Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene
-
Manfredi, G., Gupta, N., Vazquez-Memije, M.E., Sadlock, J.E., Spinazzola, A., De Vivo, D.C. and Schon, E.A. (1999) Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene. J. Biol. Chem., 274, 9386-9391.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 9386-9391
-
-
Manfredi, G.1
Gupta, N.2
Vazquez-Memije, M.E.3
Sadlock, J.E.4
Spinazzola, A.5
De Vivo, D.C.6
Schon, E.A.7
-
57
-
-
9144224757
-
Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study
-
Sciacco, M., Prelle, A., D'Adda, E., Lamperti, C., Bordoni, A., Rango, M., Crimi, M., Comi, G.P., Bresolin, N. and Moggio, M. (2003) Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study. J. Neurol., 250, 1498-1500.
-
(2003)
J. Neurol
, vol.250
, pp. 1498-1500
-
-
Sciacco, M.1
Prelle, A.2
D'Adda, E.3
Lamperti, C.4
Bordoni, A.5
Rango, M.6
Crimi, M.7
Comi, G.P.8
Bresolin, N.9
Moggio, M.10
-
58
-
-
0036297660
-
Sequence analysis of the entire mitochondrial genome in Parkinson's disease
-
Vives-Bauza, C., Andreu, A.L., Manfredi, G., Beal, M.F., Janetzky, B., Gruenewald, T.H. and Lin, M.T. (2002) Sequence analysis of the entire mitochondrial genome in Parkinson's disease. Biochem. Biophys. Res. Commun., 290, 1593-1601.
-
(2002)
Biochem. Biophys. Res. Commun.
, vol.290
, pp. 1593-1601
-
-
Vives-Bauza, C.1
Andreu, A.L.2
Manfredi, G.3
Beal, M.F.4
Janetzky, B.5
Gruenewald, T.H.6
Lin, M.T.7
-
59
-
-
34147104389
-
Assay of mitochondrial ATP synthesis in animal cells and tissues
-
Vives-Bauza, C., Yang, L. and Manfredi, G. (2007) Assay of mitochondrial ATP synthesis in animal cells and tissues. Methods Cell. Biol., 80, 155-171.
-
(2007)
Methods Cell. Biol.
, vol.80
, pp. 155-171
-
-
Vives-Bauza, C.1
Yang, L.2
Manfredi, G.3
-
60
-
-
0035861593
-
In vivo regulation of oxidative phosphorylation in cells harboring a stop-codon mutation in mitochondrial DNA-encoded cytochrome c oxidase subunit I
-
D'Aurelio, M., Pallotti, F., Barrientos, A., Gajewski, C.D., Kwong, J.Q., Bruno, C., Beal, M.F. and Manfredi, G. (2001) In vivo regulation of oxidative phosphorylation in cells harboring a stop-codon mutation in mitochondrial DNA-encoded cytochrome c oxidase subunit I. J. Biol. Chem., 276, 46925-46932.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 46925-46932
-
-
D'Aurelio, M.1
Pallotti, F.2
Barrientos, A.3
Gajewski, C.D.4
Kwong, J.Q.5
Bruno, C.6
Beal, M.F.7
Manfredi, G.8
-
61
-
-
0029964226
-
Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines
-
Trounce, I.A., Kim, Y.L., Jun, A.S. and Wallace, D.C. (1996) Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines. Methods Enzymol., 264, 484-509.
-
(1996)
Methods Enzymol.
, vol.264
, pp. 484-509
-
-
Trounce, I.A.1
Kim, Y.L.2
Jun, A.S.3
Wallace, D.C.4
|