-
1
-
-
0027104114
-
The NADH:ubiquinone oxidoreductase (complex I) of respiratory chains
-
J.E. Walker The NADH:ubiquinone oxidoreductase (complex I) of respiratory chains Rev. Biophys. 25 1992 253 324
-
(1992)
Rev. Biophys.
, vol.25
, pp. 253-324
-
-
Walker, J.E.1
-
2
-
-
0038160473
-
Analysis of the subunit composition of comlex I from bovine heart mitochondria
-
J. Carroll, I.M. Fearnley, R.J. Shannon, J. Hirst, and J.E. Walker Analysis of the subunit composition of comlex I from bovine heart mitochondria Mol. Cell. Proteomics. 2 2003 117 126
-
(2003)
Mol. Cell. Proteomics.
, vol.2
, pp. 117-126
-
-
Carroll, J.1
Fearnley, I.M.2
Shannon, R.J.3
Hirst, J.4
Walker, J.E.5
-
3
-
-
0032490099
-
Human complex I deficiency: Clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect
-
B.H. Robinson Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect Biochim. Biophys. Acta 1364 1998 271 286
-
(1998)
Biochim. Biophys. Acta
, vol.1364
, pp. 271-286
-
-
Robinson, B.H.1
-
4
-
-
0032893995
-
Respiratory chain complex I deficiency: An underdiagnosed energy generation disorder
-
D.M. Kirby, M. Crawford, M.A. Cleary, H.H. Dahl, X. Dennett, and D.R. Thorburn Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder Neurology 52 1999 1255 1264
-
(1999)
Neurology
, vol.52
, pp. 1255-1264
-
-
Kirby, D.M.1
Crawford, M.2
Cleary, M.A.3
Dahl, H.H.4
Dennett, X.5
Thorburn, D.R.6
-
5
-
-
0037903268
-
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy
-
P. Benit, R. Beugnot, D. Chretien, I. Giurgea, P. De Lonlay-Debeney, J.P. Issartel, M. Corral-Debrinski, S. Kerscher, P. Rustin, A. Rotig, and A. Munnich Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy Hum. Mutat. 21 2003 582 586
-
(2003)
Hum. Mutat.
, vol.21
, pp. 582-586
-
-
Benit, P.1
Beugnot, R.2
Chretien, D.3
Giurgea, I.4
De Lonlay-Debeney, P.5
Issartel, J.P.6
Corral-Debrinski, M.7
Kerscher, S.8
Rustin, P.9
Rotig, A.10
Munnich, A.11
-
6
-
-
9144221957
-
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome
-
P. Benit, A. Slama, F. Cartault, I. Giurgea, D. Chretien, S. Lebon, C. Marsac, A. Munnich, A. Rotig, and P. Rustin Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome J. Med. Genet. 41 2004
-
(2004)
J. Med. Genet.
, vol.41
-
-
Benit, P.1
Slama, A.2
Cartault, F.3
Giurgea, I.4
Chretien, D.5
Lebon, S.6
Marsac, C.7
Munnich, A.8
Rotig, A.9
Rustin, P.10
-
7
-
-
0034988212
-
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency
-
P. Benit, D. Chretien, N. Kadhom, P. de Lonlay-Debeney, V. Cormier-Daire, A. Cabral, S. Peudenier, P. Rustin, A. Munnich, and A. Rotig Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency Am. J. Hum. Genet. 68 2001 1344 1352
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 1344-1352
-
-
Benit, P.1
Chretien, D.2
Kadhom, N.3
De Lonlay-Debeney, P.4
Cormier-Daire, V.5
Cabral, A.6
Peudenier, S.7
Rustin, P.8
Munnich, A.9
Rotig, A.10
-
8
-
-
0034120154
-
Clinical differences in patients with mitochondriolcytopathies due to nuclear versus mitochondrial DNA mutations
-
M.E. Rubio-Gozalbo, K.P. Dijkman, L.P. van den Heuvel, R.C.A. Sengers, U. Wendel, and J.A.M. Smeitink Clinical differences in patients with mitochondriolcytopathies due to nuclear versus mitochondrial DNA mutations Hum. Mut. 15 2000 522 532
-
(2000)
Hum. Mut.
, vol.15
, pp. 522-532
-
-
Rubio-Gozalbo, M.E.1
Dijkman, K.P.2
Van Den Heuvel, L.P.3
Sengers, R.C.A.4
Wendel, U.5
Smeitink, J.A.M.6
-
9
-
-
0033522924
-
Titrating the effects of mitochondrial complex I impairment in the cell physiology
-
A. Barrientos, and C.T. Moraes Titrating the effects of mitochondrial complex I impairment in the cell physiology J. Biol. Chem. 274 1999 16188 16197
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 16188-16197
-
-
Barrientos, A.1
Moraes, C.T.2
-
10
-
-
0030056515
-
Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase
-
S. Pitkanen, and B.H. Robinson Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase J. Clin. Invest. 98 1996 345 351
-
(1996)
J. Clin. Invest.
, vol.98
, pp. 345-351
-
-
Pitkanen, S.1
Robinson, B.H.2
-
11
-
-
0029874964
-
Use of fibroblast and lymphoblast cultures for detection of respiratory chain defects
-
B.H. Robinson Use of fibroblast and lymphoblast cultures for detection of respiratory chain defects Methods Enzymol. 264 1996 454 464
-
(1996)
Methods Enzymol.
, vol.264
, pp. 454-464
-
-
Robinson, B.H.1
-
12
-
-
0029005180
-
Riboflavin-responsive complex I deficiency
-
H.R. Scholte, H. Busch, H.D. Bakker, J.M. Bogaard, I.E. Luyt-Houwen, and L.P. Kuyt Riboflavin-responsive complex I deficiency Biochim. Biophys. Acta 127 1995 75 83
-
(1995)
Biochim. Biophys. Acta
, vol.127
, pp. 75-83
-
-
Scholte, H.R.1
Busch, H.2
Bakker, H.D.3
Bogaard, J.M.4
Luyt-Houwen, I.E.5
Kuyt, L.P.6
-
13
-
-
0023253686
-
Therapy of mitochondrial disorders
-
H. Przyrembel Therapy of mitochondrial disorders J. Inherit. Metab. Dis. 10 1987 129 146
-
(1987)
J. Inherit. Metab. Dis.
, vol.10
, pp. 129-146
-
-
Przyrembel, H.1
-
14
-
-
0027336477
-
Coenzyme Q10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease
-
P.M. Matthews, B. Ford, R.J. Dandurand, D.H. Eidelman, D. O'Connor, A. Sherwin, G. Karpati, F. Andermann, and D.L. Arnold Coenzyme Q10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease Neurology 43 1993 884 890
-
(1993)
Neurology
, vol.43
, pp. 884-890
-
-
Matthews, P.M.1
Ford, B.2
Dandurand, R.J.3
Eidelman, D.H.4
O'Connor, D.5
Sherwin, A.6
Karpati, G.7
Andermann, F.8
Arnold, D.L.9
-
15
-
-
0042422222
-
Nutritional cofactor treatment in mitochondrial disorders
-
B. Marriage, C.T. Clandinin, and M. Glerum nutritional cofactor treatment in mitochondrial disorders J. Am. Diet. Assoc. 103 2003 1029 1038
-
(2003)
J. Am. Diet. Assoc.
, vol.103
, pp. 1029-1038
-
-
Marriage, B.1
Clandinin, C.T.2
Glerum, M.3
-
17
-
-
0035666573
-
Effects of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency
-
M. Bar-Meir, O. Elpeleg, and A. Saada Effects of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency J. Pediatr. 139 2001 868 870
-
(2001)
J. Pediatr.
, vol.139
, pp. 868-870
-
-
Bar-Meir, M.1
Elpeleg, O.2
Saada, A.3
-
18
-
-
17344365132
-
Demonstration of a new pathogenic mutation in human complex I deficiency: A 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit
-
L. vanden Heuvel, W. Ruitenbeek, R. Smeets, Z. Gelman-Kohan, O. Elpeleg, J. Loeffen, F. Trijbels, E. Mariman, D. de Bruijn, and J. Smeitink Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit Am. J. Hum. Genet. 62 1998 262 268
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 262-268
-
-
Vanden Heuvel, L.1
Ruitenbeek, W.2
Smeets, R.3
Gelman-Kohan, Z.4
Elpeleg, O.5
Loeffen, J.6
Trijbels, F.7
Mariman, E.8
De Bruijn, D.9
Smeitink, J.10
-
19
-
-
0020974404
-
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes
-
P.G. Barth, H.R. Scholte, J.A. Berden, J.M. VanderKlei-Van Moorsel, I.E. Luyt-Houwen, E.T. Van'tVeer-Korthof, J.J. Vander Harten, and M.A. Sobotka-Plojhar An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes J. Neurol. Sci. 62 1983 327 355
-
(1983)
J. Neurol. Sci.
, vol.62
, pp. 327-355
-
-
Barth, P.G.1
Scholte, H.R.2
Berden, J.A.3
Vanderklei-Van Moorsel, J.M.4
Luyt-Houwen, I.E.5
Van'Tveer-Korthof, E.T.6
Vander Harten, J.J.7
Sobotka-Plojhar, M.A.8
-
20
-
-
77957010982
-
Citrate synthase
-
P.A. Srere Citrate synthase Methods Enzymol. 13 1969 3 11
-
(1969)
Methods Enzymol.
, vol.13
, pp. 3-11
-
-
Srere, P.A.1
-
21
-
-
0025807180
-
Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations
-
M.H. Tulinius, E. Holme, B. Kristiansson, N.G. Larsson, and A. Oldfors Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations J. Pediatr. 119 1991 242 250
-
(1991)
J. Pediatr.
, vol.119
, pp. 242-250
-
-
Tulinius, M.H.1
Holme, E.2
Kristiansson, B.3
Larsson, N.G.4
Oldfors, A.5
-
22
-
-
0027931039
-
Biochemical and molecular investigations in respiratory chain deficiencies
-
P. Rustin, D. Chretien, T. Bourgeron, B. Gerard, A. Rotig, J.M. Saudubray, and A. Munnich Biochemical and molecular investigations in respiratory chain deficiencies Clin. Chim. Acta 228 1994 35 51
-
(1994)
Clin. Chim. Acta
, vol.228
, pp. 35-51
-
-
Rustin, P.1
Chretien, D.2
Bourgeron, T.3
Gerard, B.4
Rotig, A.5
Saudubray, J.M.6
Munnich, A.7
-
23
-
-
0027440231
-
Measurement of totally activated pyruvate dehydrogenase complex activity in human muscle: Evaluation of a useful assay
-
W. Sperl W, J.M. Trijbels, W. Ruitenbeek W, H.L. van Laack, A.J. Janssen, C.M. Kerkhof, and R.C. Sengers Measurement of totally activated pyruvate dehydrogenase complex activity in human muscle: evaluation of a useful assay Enzyme Protein 47 1993 37 46
-
(1993)
Enzyme Protein
, Issue.47
, pp. 37-46
-
-
Sperl, W.W.1
Trijbels, J.M.2
Ruitenbeek, W.W.3
Van Laack, H.L.4
Janssen, A.J.5
Kerkhof, C.M.6
Sengers, R.C.7
-
25
-
-
1042268861
-
Mitochondrial complex I mutations in Caenorhabditis elegans produce cytochrome c oxidase deficiency, oxidative stress and vitamin-responsive lactic acidosis
-
L.I. Grad, and B.D. Lemire Mitochondrial complex I mutations in Caenorhabditis elegans produce cytochrome c oxidase deficiency, oxidative stress and vitamin-responsive lactic acidosis Hum. Mol. Genet. 13 2004 303 314
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 303-314
-
-
Grad, L.I.1
Lemire, B.D.2
-
26
-
-
0344875113
-
Oral uridine pro-drug PN401 decreases neurodegeneration, behavioral impairment, weight loss and mortality in the 3-nitropropionic acid mitochondrial toxin model of Huntington's disease
-
J.A. Saydoff, L.S. Liu, R.A. Garcia, Z. Hu, D. Li, and R.W. von Borstel Oral uridine pro-drug PN401 decreases neurodegeneration, behavioral impairment, weight loss and mortality in the 3-nitropropionic acid mitochondrial toxin model of Huntington's disease Brain Res. 19 2003 44 54
-
(2003)
Brain Res.
, vol.19
, pp. 44-54
-
-
Saydoff, J.A.1
Liu, L.S.2
Garcia, R.A.3
Hu, Z.4
Li, D.5
Von Borstel, R.W.6
-
27
-
-
0020334058
-
Free radical biology: Xenobiotics, cancer, and aging
-
W.A. Pryor Free radical biology: xenobiotics, cancer, and aging Ann. N. Y. Acad. Sci. 393 1982 1 22
-
(1982)
Ann. N. Y. Acad. Sci.
, vol.393
, pp. 1-22
-
-
Pryor, W.A.1
-
28
-
-
0027933701
-
Isolated cerebral and cerebellar mitochondria produce free radicals when exposed to elevated CA2+ and Na+: Implications for neurodegeneration
-
J.A. Dykens Isolated cerebral and cerebellar mitochondria produce free radicals when exposed to elevated CA2+ and Na+: implications for neurodegeneration J. Neurochem. 63 1994 584 591
-
(1994)
J. Neurochem.
, vol.63
, pp. 584-591
-
-
Dykens, J.A.1
-
29
-
-
0033851115
-
The chemical and biological versatility of riboflavin
-
V. Massey The chemical and biological versatility of riboflavin Biochem. Soc. Trans. 28 2000 283 296
-
(2000)
Biochem. Soc. Trans.
, vol.28
, pp. 283-296
-
-
Massey, V.1
-
30
-
-
1842523325
-
Cofactor treatment improves ATP synthetic capacity in patients with oxidative phosphorylation disorders
-
B.J. Marriage, M.T. Clandinin, I.M. Macdonald, and D.M. Glerum Cofactor treatment improves ATP synthetic capacity in patients with oxidative phosphorylation disorders Mol. Genet. Metab. 81 2004 263 272
-
(2004)
Mol. Genet. Metab.
, vol.81
, pp. 263-272
-
-
Marriage, B.J.1
Clandinin, M.T.2
MacDonald, I.M.3
Glerum, D.M.4
-
31
-
-
0033042929
-
(R)-alpha-lipoic acid-supplemented old rats have improved mitochondrial function, decreased oxidative damage, and increased metabolic rate
-
T.M. Hagen, R.T. Ingersoll, J. Lykkesfeldt, J. Liu, C.M. Wehr, V. Vinarsky, J.C. Bartholomew, and A.B. Ames (R)-alpha-lipoic acid-supplemented old rats have improved mitochondrial function, decreased oxidative damage, and increased metabolic rate FASEB J. 13 1999 411 418
-
(1999)
FASEB J.
, vol.13
, pp. 411-418
-
-
Hagen, T.M.1
Ingersoll, R.T.2
Lykkesfeldt, J.3
Liu, J.4
Wehr, C.M.5
Vinarsky, V.6
Bartholomew, J.C.7
Ames, A.B.8
-
32
-
-
0025675664
-
Menadione partially restores NADH-oxidation and ATP-synthesis in complex I deficient fibroblasts
-
F.A. Wijburg, N. Feller, C.J. de Groot, and R.J. Wanders Menadione partially restores NADH-oxidation and ATP-synthesis in complex I deficient fibroblasts Biochem. Int. 22 1990 303 309
-
(1990)
Biochem. Int.
, vol.22
, pp. 303-309
-
-
Wijburg, F.A.1
Feller, N.2
De Groot, C.J.3
Wanders, R.J.4
-
33
-
-
0023115210
-
Congenital deficiency of two polypeptide subunits of the iron-protein fragment of mitochondrial complex I
-
R.W. Moreadith, M.W.J. Cleeter, C.I. Ragan, M.L. Batshaw, and A.L. Lehninger Congenital deficiency of two polypeptide subunits of the iron-protein fragment of mitochondrial complex I J. Clin. Invest. 79 1986 463 467
-
(1986)
J. Clin. Invest.
, vol.79
, pp. 463-467
-
-
Moreadith, R.W.1
Cleeter, M.W.J.2
Ragan, C.I.3
Batshaw, M.L.4
Lehninger, A.L.5
-
34
-
-
0021162081
-
Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidemia
-
R.W. Moreadith, M.L. Batshaw, T. Ohnishi, D. Kerr, B. Knox, D. Jackson, R.H. Hruban, J. Olson, B. Reyfarje, and A.L. Lehninger Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidemia J. Clin. Invest. 74 1984 685 697
-
(1984)
J. Clin. Invest.
, vol.74
, pp. 685-697
-
-
Moreadith, R.W.1
Batshaw, M.L.2
Ohnishi, T.3
Kerr, D.4
Knox, B.5
Jackson, D.6
Hruban, R.H.7
Olson, J.8
Reyfarje, B.9
Lehninger, A.L.10
-
35
-
-
0023796321
-
The site of synthesis of the iron-sulfur subunits of the flavoprotein and iron-protein fractions of human NADH dehydrogenase
-
A. Chomyn, S.D. Patel, M.W.J. Cleeter, C.I. Ragan, and G. Attardi The site of synthesis of the iron-sulfur subunits of the flavoprotein and iron-protein fractions of human NADH dehydrogenase J. Biol. Chem. 263 1988 16395 16400
-
(1988)
J. Biol. Chem.
, vol.263
, pp. 16395-16400
-
-
Chomyn, A.1
Patel, S.D.2
Cleeter, M.W.J.3
Ragan, C.I.4
Attardi, G.5
-
36
-
-
0032545226
-
CDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase:human complex I cDNA characterization completed
-
J.L.C.M. Loeffen, R.H. Triepels, L.P. van den Heuvel, M. Shuelke, C.A.F. Buskens, R.J.P. Smeets, J.M.F. Trijbels, and J.A.M. Smeitink CDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase:human complex I cDNA characterization completed Biochem. Biophys. Res. Commun. 253 1998 415 422
-
(1998)
Biochem. Biophys. Res. Commun.
, vol.253
, pp. 415-422
-
-
Loeffen, J.L.C.M.1
Triepels, R.H.2
Van Den Heuvel, L.P.3
Shuelke, M.4
Buskens, C.A.F.5
Smeets, R.J.P.6
Trijbels, J.M.F.7
Smeitink, J.A.M.8
-
37
-
-
18744426519
-
Leber's hereditary optic neuropathy: Biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype
-
V. Carelli, A. Ghelli, M. Ratta, E. Bacchilega, S. Sangiorgi, R. Mancini, V. Leuzz, P. Cortelli, P. Montagna, E. Lugaresi, and M. Degli Esposti Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype Neurology 48 1997 1623 1632
-
(1997)
Neurology
, vol.48
, pp. 1623-1632
-
-
Carelli, V.1
Ghelli, A.2
Ratta, M.3
Bacchilega, E.4
Sangiorgi, S.5
Mancini, R.6
Leuzz, V.7
Cortelli, P.8
Montagna, P.9
Lugaresi, E.10
Degli Esposti, M.11
-
38
-
-
0025936841
-
Leber's hereditary optic neuropathy and complex I deficiency in muscle
-
NG. Larsson, O. Anderssen, E. Holme, A. Oldfors, and J. Wahlstrom Leber's hereditary optic neuropathy and complex I deficiency in muscle Ann. Neurol. 30 1991 701 708
-
(1991)
Ann. Neurol.
, vol.30
, pp. 701-708
-
-
Larsson, N.G.1
Anderssen, O.2
Holme, E.3
Oldfors, A.4
Wahlstrom, J.5
-
39
-
-
0242353332
-
Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency
-
H. Antonicka, I. Oglivie, T. Taivassalo, R.P. Anitori, R.G. Haller, J. Vissing, N.G. Kennaway, and E.A. Shoubridge Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency J. Biol. Chem. 278 2003 4381 4388
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 4381-4388
-
-
Antonicka, H.1
Oglivie, I.2
Taivassalo, T.3
Anitori, R.P.4
Haller, R.G.5
Vissing, J.6
Kennaway, N.G.7
Shoubridge, E.A.8
-
40
-
-
1642382090
-
Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency
-
C. Ugalde, R.J.R.J. Janssen, L.P. vanden Heuvel, J.A.M. Smeitink, and L.G.J. Nijtmans Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency Hum. Mol. Genet. 13 2004 659 667
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 659-667
-
-
Ugalde, C.1
Janssen, R.J.R.J.2
Vanden Heuvel, L.P.3
Smeitink, J.A.M.4
Nijtmans, L.G.J.5
-
41
-
-
0035937748
-
Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns
-
R.F. Triepels, B.J. Hanson, L.P. vanden Heuvel, L. Sundell, M.F. Marusich, J.A. Smeitink, and R.A. Capaldi Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns J. Biol. Chem. 12 2001 8892 8897
-
(2001)
J. Biol. Chem.
, vol.12
, pp. 8892-8897
-
-
Triepels, R.F.1
Hanson, B.J.2
Vanden Heuvel, L.P.3
Sundell, L.4
Marusich, M.F.5
Smeitink, J.A.6
Capaldi, R.A.7
|