-
1
-
-
0032893995
-
Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder
-
Kirby, D.M., Crawford, M., Cleary, M.A., Dahl, H.H., Dennett, X. and Thorburn, D.R. (1999) Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder. Neurology, 52, 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
-
2
-
-
0034956078
-
Respiratory chain complex I deficiency
-
Triepels, R.H., Van Den Heuvel, L.P., Trijbels, J.M. and Smeitink, J.A. (2001) Respiratory chain complex I deficiency. Am. J. Med. Genet., 106, 37-45.
-
(2001)
Am. J. Med. Genet.
, vol.106
, pp. 37-45
-
-
Triepels, R.H.1
Van Den Heuvel, L.P.2
Trijbels, J.M.3
Smeitink, J.A.4
-
3
-
-
84860697620
-
Understanding mitochondrial complex I assembly in health and disease
-
Mimaki, M., Wang, X., McKenzie, M., Thorburn, D.R. and Ryan, M.T. (2011) Understanding mitochondrial complex I assembly in health and disease. Biochim. Biophys. Acta, 1817, 851-862.
-
(2011)
Biochim. Biophys. Acta
, vol.1817
, pp. 851-862
-
-
Mimaki, M.1
Wang, X.2
McKenzie, M.3
Thorburn, D.R.4
Ryan, M.T.5
-
4
-
-
77957606541
-
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
-
Calvo, S.E., Tucker, E.J., Compton, A.G., Kirby, D.M., Crawford, G., Burtt, N.P., Rivas, M., Guiducci, C., Bruno, D.L., Goldberger, O.A. et al. (2010) High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat. Genet., 42, 851-858.
-
(2010)
Nat. Genet.
, vol.42
, pp. 851-858
-
-
Calvo, S.E.1
Tucker, E.J.2
Compton, A.G.3
Kirby, D.M.4
Crawford, G.5
Burtt, N.P.6
Rivas, M.7
Guiducci, C.8
Bruno, D.L.9
Goldberger, O.A.10
-
5
-
-
34447312250
-
Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease
-
Dunning, C.J., McKenzie, M., Sugiana, C., Lazarou, M., Silke, J., Connelly, A., Fletcher, J.M., Kirby, D.M., Thorburn, D.R. and Ryan, M.T. (2007) Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. EMBO J., 11, 3227-3237.
-
(2007)
EMBO J
, vol.11
, pp. 3227-3237
-
-
Dunning, C.J.1
McKenzie, M.2
Sugiana, C.3
Lazarou, M.4
Silke, J.5
Connelly, A.6
Fletcher, J.M.7
Kirby, D.M.8
Thorburn, D.R.9
Ryan, M.T.10
-
6
-
-
26444488636
-
A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy
-
Ogilvie, I., Kennaway, N.G. and Shoubridge, E.A. (2005) A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. J. Clin. Invest., 115, 2784-2792.
-
(2005)
J. Clin. Invest.
, vol.115
, pp. 2784-2792
-
-
Ogilvie, I.1
Kennaway, N.G.2
Shoubridge, E.A.3
-
7
-
-
66749128531
-
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease
-
Saada, A., Vogel, R.O., Hoefs, S.J., van den Brand, M.A., Wessels, H.J., Willems, P.H., Venselaar, H., Shaag, A., Barghuti, F., Reish, O. et al. (2009) Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. Am. J. Hum. Genet., 84, 718-727.
-
(2009)
Am. J. Hum. Genet.
, vol.84
, pp. 718-727
-
-
Saada, A.1
Vogel, R.O.2
Hoefs, S.J.3
van den Brand, M.A.4
Wessels, H.J.5
Willems, P.H.6
Venselaar, H.7
Shaag, A.8
Barghuti, F.9
Reish, O.10
-
8
-
-
38749144436
-
C6ORF66 is an assembly factor of mitochondrial complex I
-
Saada, A., Edvardson, S., Rapoport, M., Shaag, A., Amry, K., Miller, C., Lorberboum-Galski, H. and Elpeleg, O. (2008) C6ORF66 is an assembly factor of mitochondrial complex I. Am. J. Hum. Genet., 82, 32-38.
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 32-38
-
-
Saada, A.1
Edvardson, S.2
Rapoport, M.3
Shaag, A.4
Amry, K.5
Miller, C.6
Lorberboum-Galski, H.7
Elpeleg, O.8
-
9
-
-
82555168324
-
Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1
-
McKenzie, M., Tucker, E.J., Compton, A.G., Lazarou, M., George, C., Thorburn, D.R. and Ryan, M.T. (2011) Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1. J. Mol. Biol., 414, 413-426.
-
(2011)
J. Mol. Biol.
, vol.414
, pp. 413-426
-
-
McKenzie, M.1
Tucker, E.J.2
Compton, A.G.3
Lazarou, M.4
George, C.5
Thorburn, D.R.6
Ryan, M.T.7
-
10
-
-
53049098744
-
Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease
-
Sugiana, C., Pagliarini, D.J., McKenzie, M., Kirby, D.M., Salemi, R., Abu-Amero, K.K., Dahl, H.H., Hutchison, W.M., Vascotto, K.A., Smith, S.M. et al. (2008) Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. Am. J. Hum. Genet., 83, 468-478.
-
(2008)
Am. J. Hum. Genet.
, vol.83
, pp. 468-478
-
-
Sugiana, C.1
Pagliarini, D.J.2
McKenzie, M.3
Kirby, D.M.4
Salemi, R.5
Abu-Amero, K.K.6
Dahl, H.H.7
Hutchison, W.M.8
Vascotto, K.A.9
Smith, S.M.10
-
11
-
-
78649454768
-
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy
-
Fassone, E., Duncan, A.J., Taanman, J.W., Pagnamenta, A.T., Sadowski, M.I., Holand, T., Qasim, W., Rutland, P., Calvo, S.E., Mootha, V.K. et al. (2010) FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. Hum. Mol. Genet., 19, 4837-4847.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 4837-4847
-
-
Fassone, E.1
Duncan, A.J.2
Taanman, J.W.3
Pagnamenta, A.T.4
Sadowski, M.I.5
Holand, T.6
Qasim, W.7
Rutland, P.8
Calvo, S.E.9
Mootha, V.K.10
-
12
-
-
77956318447
-
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I
-
Nouws, J., Nijtmans, L., Houten, S.M., van den Brand, M., Huynen, M., Venselaar, H., Hoefs, S., Gloerich, J., Kronick, J., Hutchin, T. et al. (2010) Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. Cell Metab., 12, 283-294.
-
(2010)
Cell Metab
, vol.12
, pp. 283-294
-
-
Nouws, J.1
Nijtmans, L.2
Houten, S.M.3
van den Brand, M.4
Huynen, M.5
Venselaar, H.6
Hoefs, S.7
Gloerich, J.8
Kronick, J.9
Hutchin, T.10
-
13
-
-
10644244369
-
AIF deficiency compromises oxidative phosphorylation
-
Vahsen, N., Cande, C., Briere, J.J., Benit, P., Joza, N., Larochette, N., Mastroberardino, P.G., Pequignot, M.O., Casares, N., Lazar, V. et al. (2004) AIF deficiency compromises oxidative phosphorylation. EMBO J., 23, 4679-4689.
-
(2004)
EMBO J
, vol.23
, pp. 4679-4689
-
-
Vahsen, N.1
Cande, C.2
Briere, J.J.3
Benit, P.4
Joza, N.5
Larochette, N.6
Mastroberardino, P.G.7
Pequignot, M.O.8
Casares, N.9
Lazar, V.10
-
14
-
-
33947129099
-
Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly
-
Vogel, R.O., Janssen, R.J., van den Brand, M.A., Dieteren, C.E., Verkaart, S., Koopman, W.J., Willems, P.H., Pluk, W., van den Heuvel, L.P., Smeitink, J.A. et al. (2007) Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly. Genes Dev., 21, 615-624.
-
(2007)
Genes Dev
, vol.21
, pp. 615-624
-
-
Vogel, R.O.1
Janssen, R.J.2
van den Brand, M.A.3
Dieteren, C.E.4
Verkaart, S.5
Koopman, W.J.6
Willems, P.H.7
Pluk, W.8
van den Heuvel, L.P.9
Smeitink, J.A.10
-
15
-
-
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. (2003) Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency. J. Biol. Chem., 278, 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
-
16
-
-
77953432125
-
Five entry points of the mitochondrially encoded subunits in mammalian complex I assembly
-
Perales-Clemente, E., Fernandez-Vizarra, E., Acin-Perez, R., Movilla, N., Bayona-Bafaluy, M.P., Moreno-Loshuertos, R., Perez-Martos, A., Fernandez-Silva, P. and Enriquez, J.A. (2010) Five entry points of the mitochondrially encoded subunits in mammalian complex I assembly. Mol. Cell Biol., 30, 3038-3047.
-
(2010)
Mol. Cell Biol.
, vol.30
, pp. 3038-3047
-
-
Perales-Clemente, E.1
Fernandez-Vizarra, E.2
Acin-Perez, R.3
Movilla, N.4
Bayona-Bafaluy, M.P.5
Moreno-Loshuertos, R.6
Perez-Martos, A.7
Fernandez-Silva, P.8
Enriquez, J.A.9
-
17
-
-
58049219750
-
Subunits of mitochondrial complex I exist as part of matrixand membrane-associated subcomplexes in living cells
-
Dieteren, C.E., Willems, P.H., Vogel, R.O., Swarts, H.G., Fransen, J., Roepman, R., Crienen, G., Smeitink, J.A., Nijtmans, L.G. and Koopman, W.J. (2008) Subunits of mitochondrial complex I exist as part of matrixand membrane-associated subcomplexes in living cells. J. Biol. Chem., 283, 34753-34761.
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 34753-34761
-
-
Dieteren, C.E.1
Willems, P.H.2
Vogel, R.O.3
Swarts, H.G.4
Fransen, J.5
Roepman, R.6
Crienen, G.7
Smeitink, J.A.8
Nijtmans, L.G.9
Koopman, W.J.10
-
18
-
-
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. (2007) Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits. J. Biol. Chem., 282, 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
-
19
-
-
34250164233
-
Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I
-
Lazarou, M., McKenzie, M., Ohtake, A., Thorburn, D.R. and Ryan, M.T. (2007) Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I. Mol. Cell Biol., 27, 4228-4237.
-
(2007)
Mol. Cell Biol.
, vol.27
, pp. 4228-4237
-
-
Lazarou, M.1
McKenzie, M.2
Ohtake, A.3
Thorburn, D.R.4
Ryan, M.T.5
-
20
-
-
77954848120
-
Functional modules and structural basis of conformational coupling in mitochondrial complex I
-
Hunte, C., Zickermann, V. and Brandt, U. (2010) Functional modules and structural basis of conformational coupling in mitochondrial complex I. Science, 329, 448-451.
-
(2010)
Science
, vol.329
, pp. 448-451
-
-
Hunte, C.1
Zickermann, V.2
Brandt, U.3
-
21
-
-
84855240784
-
Mitochondrial AAA proteases-towards a molecular understanding of membrane-bound proteolytic machines
-
Gerdes, F., Tatsuta, T. and Langer, T. (2012) Mitochondrial AAA proteases-towards a molecular understanding of membrane-bound proteolytic machines. Biochim. Biophys. Acta, 1823, 49-55.
-
(2012)
Biochim. Biophys. Acta
, vol.1823
, pp. 49-55
-
-
Gerdes, F.1
Tatsuta, T.2
Langer, T.3
-
22
-
-
26844484821
-
The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria
-
Nolden, M., Ehses, S., Koppen, M., Bernacchia, A., Rugarli, E.I. and Langer, T. (2005) The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. Cell, 123, 277-289.
-
(2005)
Cell
, vol.123
, pp. 277-289
-
-
Nolden, M.1
Ehses, S.2
Koppen, M.3
Bernacchia, A.4
Rugarli, E.I.5
Langer, T.6
-
23
-
-
79960047807
-
Presequence-dependent folding ensures MrpL32 processing by the m-AAA protease in mitochondria
-
Bonn, F., Tatsuta, T., Petrungaro, C., Riemer, J. and Langer, T. (2011) Presequence-dependent folding ensures MrpL32 processing by the m-AAA protease in mitochondria. EMBO J., 30, 2545-2556.
-
(2011)
EMBO J
, vol.30
, pp. 2545-2556
-
-
Bonn, F.1
Tatsuta, T.2
Petrungaro, C.3
Riemer, J.4
Langer, T.5
-
24
-
-
0344563473
-
Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts
-
Lochmuller, H., Johns, T. and Shoubridge, E.A. (1999) Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts. Exp. Cell Res., 248, 186-193.
-
(1999)
Exp. Cell Res.
, vol.248
, pp. 186-193
-
-
Lochmuller, H.1
Johns, T.2
Shoubridge, E.A.3
-
25
-
-
77955082781
-
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect
-
Antonicka, H., Ostergaard, E., Sasarman, F., Weraarpachai, W., Wibrand, F., Pedersen, A.M., Rodenburg, R.J., van der Knaap, M.S., Smeitink, J.A., Chrzanowska-Lightowlers, Z.M. et al. (2010) Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. Am. J. Hum. Genet., 87, 115-122.
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 115-122
-
-
Antonicka, H.1
Ostergaard, E.2
Sasarman, F.3
Weraarpachai, W.4
Wibrand, F.5
Pedersen, A.M.6
Rodenburg, R.J.7
van der Knaap, M.S.8
Smeitink, J.A.9
Chrzanowska-Lightowlers, Z.M.10
-
26
-
-
0037221950
-
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy
-
Antonicka, H., Mattman, A., Carlson, C.G., Glerum, D.M., Hoffbuhr, K.C., Leary, S.C., Kennaway, N.G. and Shoubridge, E.A. (2003) Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Am. J. Hum. Genet., 72, 101-114.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 101-114
-
-
Antonicka, H.1
Mattman, A.2
Carlson, C.G.3
Glerum, D.M.4
Hoffbuhr, K.C.5
Leary, S.C.6
Kennaway, N.G.7
Shoubridge, E.A.8
-
27
-
-
77950901962
-
LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria
-
Sasarman, F., Brunel-Guitton, C., Antonicka, H., Wai, T. and Shoubridge, E.A. (2010) LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria. Mol. Biol. Cell, 21, 1315-1323.
-
(2010)
Mol. Biol. Cell
, vol.21
, pp. 1315-1323
-
-
Sasarman, F.1
Brunel-Guitton, C.2
Antonicka, H.3
Wai, T.4
Shoubridge, E.A.5
-
28
-
-
84856325285
-
Radioactive labeling of mitochondrial translation products in cultured cells
-
Sasarman, F. and Shoubridge, E.A. (2012) Radioactive labeling of mitochondrial translation products in cultured cells. Methods Mol. Biol., 837, 207-217.
-
(2012)
Methods Mol. Biol.
, vol.837
, pp. 207-217
-
-
Sasarman, F.1
Shoubridge, E.A.2
|