-
1
-
-
33645052713
-
Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders
-
Smeitink J.A., Zeviani M., Turnbull D.M., and Jacobs H.T. Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. Cell Metab. 3 (2006) 9-13
-
(2006)
Cell Metab.
, vol.3
, pp. 9-13
-
-
Smeitink, J.A.1
Zeviani, M.2
Turnbull, D.M.3
Jacobs, H.T.4
-
2
-
-
33746878763
-
Mitochondrial complex I: structure, function and pathology
-
Janssen R.J., Nijtmans L.G., van den Heuvel L.P., and Smeitink J.A. Mitochondrial complex I: structure, function and pathology. J. Inherit. Metab. Dis. 29 (2006) 499-515
-
(2006)
J. Inherit. Metab. Dis.
, vol.29
, pp. 499-515
-
-
Janssen, R.J.1
Nijtmans, L.G.2
van den Heuvel, L.P.3
Smeitink, J.A.4
-
3
-
-
0038160473
-
Analysis of the subunit composition of complex I from bovine heart mitochondria
-
Carroll J., Fearnley I.M., Shannon R.J., Hirst J., and Walker J.E. Analysis of the subunit composition of complex 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
-
4
-
-
33751574953
-
Bovine complex I is a complex of forty-five different subunits
-
Carroll J., Fearnley I.M., Skehel J.M., Shannon R.J., Hirst J., and Walker J.E. Bovine complex I is a complex of forty-five different subunits. J. Biol. Chem. 281 (2006) 32724-32727
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 32724-32727
-
-
Carroll, J.1
Fearnley, I.M.2
Skehel, J.M.3
Shannon, R.J.4
Hirst, J.5
Walker, J.E.6
-
5
-
-
0242353332
-
Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency
-
Antonicka H., Ogilvie I., Taivassalo T., Anitori R.P., Haller R.G., Vissing J., Kennaway N.G., and Shoubridge E.A. 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) 43081-43088
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 43081-43088
-
-
Antonicka, H.1
Ogilvie, I.2
Taivassalo, T.3
Anitori, R.P.4
Haller, R.G.5
Vissing, J.6
Kennaway, N.G.7
Shoubridge, E.A.8
-
6
-
-
8344259033
-
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency
-
Coenen M.J., Antonicka H., Ugalde C., Sasarman F., Rossi R., Heister J.G., Newbold R.F., Trijbels F.J., van den Heuvel L.P., Shoubridge E.A., and Smeitink J.A. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N. Engl. J. Med. 351 (2004) 2080-2086
-
(2004)
N. Engl. J. Med.
, vol.351
, pp. 2080-2086
-
-
Coenen, M.J.1
Antonicka, H.2
Ugalde, C.3
Sasarman, F.4
Rossi, R.5
Heister, J.G.6
Newbold, R.F.7
Trijbels, F.J.8
van den Heuvel, L.P.9
Shoubridge, E.A.10
Smeitink, J.A.11
-
7
-
-
34147109143
-
Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits
-
Vogel .R.O., Dieteren C.E., van den Heuvel L.P., Willems P.H., Smeitink J.A., Koopman W.J., and Nijtmans L.G. Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits. J. Biol. Chem. 282 (2007) 7582-7590
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 7582-7590
-
-
Vogel, .R.O.1
Dieteren, C.E.2
van den Heuvel, L.P.3
Willems, P.H.4
Smeitink, J.A.5
Koopman, W.J.6
Nijtmans, L.G.7
-
8
-
-
0031582715
-
Modular evolution of the respiratory NADH:ubiquinone oxidoreductase and the origin of its modules
-
Friedrich T., and Weiss H. Modular evolution of the respiratory NADH:ubiquinone oxidoreductase and the origin of its modules. J. Theor. Biol. 187 (1997) 529-540
-
(1997)
J. Theor. Biol.
, vol.187
, pp. 529-540
-
-
Friedrich, T.1
Weiss, H.2
-
9
-
-
0032490101
-
Organization and evolution of structural elements within complex I
-
Finel M. Organization and evolution of structural elements within complex I. Biochim. Biophys. Acta 1364 (1998) 112-121
-
(1998)
Biochim. Biophys. Acta
, vol.1364
, pp. 112-121
-
-
Finel, M.1
-
10
-
-
0034637432
-
The respiratory complex I of bacteria, archaea and eukarya and its module common with membrane-bound multisubunit hydrogenases
-
Friedrich T., and Scheide D. The respiratory complex I of bacteria, archaea and eukarya and its module common with membrane-bound multisubunit hydrogenases. FEBS Lett. 479 (2000) 1-5
-
(2000)
FEBS Lett.
, vol.479
, pp. 1-5
-
-
Friedrich, T.1
Scheide, D.2
-
11
-
-
0041563699
-
The 'antiporter module' of respiratory chain complex I includes the MrpC/NuoK subunit-a revision of the modular evolution scheme
-
Mathiesen C., and Hagerhall C. The 'antiporter module' of respiratory chain complex I includes the MrpC/NuoK subunit-a revision of the modular evolution scheme. FEBS Lett. 549 (2003) 7-13
-
(2003)
FEBS Lett.
, vol.549
, pp. 7-13
-
-
Mathiesen, C.1
Hagerhall, C.2
-
12
-
-
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 L.P., Smeitink J., and Nijtmans L. Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies. Hum. Mol. Genet. 13 (2004) 2461-2472
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2461-2472
-
-
Ugalde, C.1
Vogel, R.2
Huijbens, R.3
van den Heuvel, L.P.4
Smeitink, J.5
Nijtmans, L.6
-
13
-
-
1842557955
-
Complex I assembly: a puzzling problem
-
Vogel R., Nijtmans L., Ugalde C., van den Heuvel L.P., and Smeitink J. Complex I assembly: a puzzling problem. Curr. Opin. Neurol. 17 (2004) 179-186
-
(2004)
Curr. Opin. Neurol.
, vol.17
, pp. 179-186
-
-
Vogel, R.1
Nijtmans, L.2
Ugalde, C.3
van den Heuvel, L.P.4
Smeitink, J.5
-
14
-
-
21244446630
-
A novel Myc-target gene, mimitin, that is involved in cell proliferation of esophageal squamous cell carcinoma
-
Tsuneoka M., Teye K., Arima N., Soejima M., Otera H., Ohashi K., Koga Y., Fujita H., Shirouzu K., Kimura H., and Koda Y. A novel Myc-target gene, mimitin, that is involved in cell proliferation of esophageal squamous cell carcinoma. J. Biol. Chem. 280 (2005) 19977-19985
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 19977-19985
-
-
Tsuneoka, M.1
Teye, K.2
Arima, N.3
Soejima, M.4
Otera, H.5
Ohashi, K.6
Koga, Y.7
Fujita, H.8
Shirouzu, K.9
Kimura, H.10
Koda, Y.11
-
15
-
-
0036523991
-
CIA30 complex I assembly factor: a candidate for human complex I deficiency?
-
Janssen R., Smeitink J., Smeets R., and van den Heuvel L.P. CIA30 complex I assembly factor: a candidate for human complex I deficiency?. Hum. Genet. 110 (2002) 264-270
-
(2002)
Hum. Genet.
, vol.110
, pp. 264-270
-
-
Janssen, R.1
Smeitink, J.2
Smeets, R.3
van den Heuvel, L.P.4
-
16
-
-
27144528747
-
Human mitochondrial complex I assembly is mediated by NDUFAF1
-
Vogel R.O., Janssen R.J., Ugalde C., Grovenstein M., Huijbens R.J., Visch H.J., van den Heuvel L.P., Willems P.H., Zeviani M., Smeitink J.A., and Nijtmans L.G. Human mitochondrial complex I assembly is mediated by NDUFAF1. FEBS J. 272 (2005) 5317-5326
-
(2005)
FEBS J.
, vol.272
, pp. 5317-5326
-
-
Vogel, R.O.1
Janssen, R.J.2
Ugalde, C.3
Grovenstein, M.4
Huijbens, R.J.5
Visch, H.J.6
van den Heuvel, L.P.7
Willems, P.H.8
Zeviani, M.9
Smeitink, J.A.10
Nijtmans, L.G.11
-
17
-
-
26444488636
-
A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy
-
Ogilvie I., Kennaway N.G., and Shoubridge E.A. A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. J. Clin. Invest. 115 (2005) 2784-2792
-
(2005)
J. Clin. Invest.
, vol.115
, pp. 2784-2792
-
-
Ogilvie, I.1
Kennaway, N.G.2
Shoubridge, E.A.3
-
18
-
-
34248545609
-
-
C. Sugiana, C. Dunning, M. Lazarou, M. McKenzie, A. Connelly, J.M. Fletcher, D. Thorburn, M.T. Ryan, Mutations in NDUFAF1, encoding a complex I assembly factor, are a novel cause of mitochondrial disease, Eleventh International Congress of Human Genetics. Conference Proceeding, Brisbane, Australia. 6-8-2006.
-
-
-
-
19
-
-
18844444516
-
Oxa1/Alb3/YidC system for insertion of membrane proteins in mitochondria, chloroplasts and bacteria
-
Yi L., and Dalbey R.E. Oxa1/Alb3/YidC system for insertion of membrane proteins in mitochondria, chloroplasts and bacteria. Mol. Membr. Biol. 22 (2005) 101-111
-
(2005)
Mol. Membr. Biol.
, vol.22
, pp. 101-111
-
-
Yi, L.1
Dalbey, R.E.2
-
20
-
-
23644456143
-
Biogenesis of cytochrome oxidase-sophisticated assembly lines in the mitochondrial inner membrane
-
Herrmann J.M., and Funes S. Biogenesis of cytochrome oxidase-sophisticated assembly lines in the mitochondrial inner membrane. Gene 354 (2005) 43-52
-
(2005)
Gene
, vol.354
, pp. 43-52
-
-
Herrmann, J.M.1
Funes, S.2
-
21
-
-
2342553529
-
Genetic defects of cytochrome c oxidase assembly
-
Pecina P., Houstkova H., Hansikova H., Zeman J., and Houstek J. Genetic defects of cytochrome c oxidase assembly. Physiol. Res. 53 Suppl. 1 (2004) S213-S223
-
(2004)
Physiol. Res.
, vol.53
, Issue.SUPPL. 1
-
-
Pecina, P.1
Houstkova, H.2
Hansikova, H.3
Zeman, J.4
Houstek, J.5
-
22
-
-
0028832212
-
Analysis of oxidative phosphorylation complexes in cultured human fibroblasts and amniocytes by blue-native-electrophoresis using mitoplasts isolated with the help of digitonin
-
Klement P., Nijtmans L.G., Van den Bogert C., and Houstek J. Analysis of oxidative phosphorylation complexes in cultured human fibroblasts and amniocytes by blue-native-electrophoresis using mitoplasts isolated with the help of digitonin. Anal. Biochem. 231 (1995) 218-224
-
(1995)
Anal. Biochem.
, vol.231
, pp. 218-224
-
-
Klement, P.1
Nijtmans, L.G.2
Van den Bogert, C.3
Houstek, J.4
-
23
-
-
0036024975
-
Blue native electrophoresis to study mitochondrial and other protein complexes
-
Nijtmans L.G., Henderson N.S., and Holt I.J. Blue native electrophoresis to study mitochondrial and other protein complexes. Methods 26 (2002) 327-334
-
(2002)
Methods
, vol.26
, pp. 327-334
-
-
Nijtmans, L.G.1
Henderson, N.S.2
Holt, I.J.3
-
24
-
-
1642382090
-
Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency
-
Ugalde C., Janssen R.J., van den Heuvel L.P., Smeitink J.A., and Nijtmans L.G. 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.2
van den Heuvel, L.P.3
Smeitink, J.A.4
Nijtmans, L.G.5
-
25
-
-
0242414752
-
Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex
-
Scacco S., Petruzzella V., Budde S., Vergari R., Tamborra R., Panelli D., van den Heuvel L.P., Smeitink J.A., and Papa S. Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex. J. Biol. Chem. 278 (2003) 44161-44167
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 44161-44167
-
-
Scacco, S.1
Petruzzella, V.2
Budde, S.3
Vergari, R.4
Tamborra, R.5
Panelli, D.6
van den Heuvel, L.P.7
Smeitink, J.A.8
Papa, S.9
-
26
-
-
0035132188
-
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy
-
Loeffen J., Elpeleg O., Smeitink J., Smeets R., Stockler-Ipsiroglu S., Mandel H., Sengers R., Trijbels F., and van den Heuvel L. Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. Ann. Neurol. 49 (2001) 195-201
-
(2001)
Ann. Neurol.
, vol.49
, pp. 195-201
-
-
Loeffen, J.1
Elpeleg, O.2
Smeitink, J.3
Smeets, R.4
Stockler-Ipsiroglu, S.5
Mandel, H.6
Sengers, R.7
Trijbels, F.8
van den Heuvel, L.9
-
27
-
-
0033050180
-
Syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I
-
Triepels R.H., van den Heuvel L.P., Loeffen J.L., Buskens C.A., Smeets R.J., Rubio Gozalbo M.E., Budde S.M., Mariman E.C., Wijburg F.A., Barth P.G., Trijbels J.M., and Smeitink J.A. Syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Ann. Neurol. 45 (1999) 787-790
-
(1999)
Ann. Neurol.
, vol.45
, pp. 787-790
-
-
Triepels, R.H.1
van den Heuvel, L.P.2
Loeffen, J.L.3
Buskens, C.A.4
Smeets, R.J.5
Rubio Gozalbo, M.E.6
Budde, S.M.7
Mariman, E.C.8
Wijburg, F.A.9
Barth, P.G.10
Trijbels, J.M.11
Smeitink, J.A.12
-
28
-
-
29644439802
-
Decreased agonist-stimulated mitochondrial ATP production caused by a pathological reduction in endoplasmic reticulum calcium content in human complex I deficiency
-
Visch H.J., Koopman W.J., Leusink A., van Emst-de Vries S.E., van den Heuvel L.W., Willems P.H., and Smeitink J.A. Decreased agonist-stimulated mitochondrial ATP production caused by a pathological reduction in endoplasmic reticulum calcium content in human complex I deficiency. Biochim. Biophys. Acta 1762 (2006) 115-123
-
(2006)
Biochim. Biophys. Acta
, vol.1762
, pp. 115-123
-
-
Visch, H.J.1
Koopman, W.J.2
Leusink, A.3
van Emst-de Vries, S.E.4
van den Heuvel, L.W.5
Willems, P.H.6
Smeitink, J.A.7
-
29
-
-
0032977683
-
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
-
Schuelke M., Smeitink J., Mariman E., Loeffen J., Plecko B., Trijbels F., Stockler-Ipsiroglu S., and van den Heuvel H.L. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nat. Genet. 21 (1999) 260-261
-
(1999)
Nat. Genet.
, vol.21
, pp. 260-261
-
-
Schuelke, M.1
Smeitink, J.2
Mariman, E.3
Loeffen, J.4
Plecko, B.5
Trijbels, F.6
Stockler-Ipsiroglu, S.7
van den Heuvel, H.L.8
-
30
-
-
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
-
van den Heuvel L.P., Ruitenbeek W., Smeets R., Gelman-Kohan Z., Elpeleg O., Loeffen J., Trijbels F., Mariman E., de Bruin D., and Smeitink J. 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
-
-
van den Heuvel, L.P.1
Ruitenbeek, W.2
Smeets, R.3
Gelman-Kohan, Z.4
Elpeleg, O.5
Loeffen, J.6
Trijbels, F.7
Mariman, E.8
de Bruin, D.9
Smeitink, J.10
-
31
-
-
0942288076
-
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I
-
Budde S.M., van den Heuvel L.P., Smeets R.J., Skladal D., Mayr J.A., Boelen C., Petruzzella V., Papa S., and Smeitink J.A. Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I. J. Inherit. Metab Dis. 26 (2003) 813-815
-
(2003)
J. Inherit. Metab Dis.
, vol.26
, pp. 813-815
-
-
Budde, S.M.1
van den Heuvel, L.P.2
Smeets, R.J.3
Skladal, D.4
Mayr, J.A.5
Boelen, C.6
Petruzzella, V.7
Papa, S.8
Smeitink, J.A.9
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