-
1
-
-
0034663704
-
Application of the obligate aerobic yeast Yarrowia lipolytica as a eucaryotic model to analyze Leigh syndrome mutations in the complex I core subunits PSST and TYKY
-
Ahlers PM, Garofano A, Kerscher SJ, and Brandt U. Application of the obligate aerobic yeast Yarrowia lipolytica as a eucaryotic model to analyze Leigh syndrome mutations in the complex I core subunits PSST and TYKY. Biochim Biophys Acta 1459: 258-265, 2000.
-
(2000)
Biochim Biophys Acta
, vol.1459
, pp. 258-265
-
-
Ahlers, P.M.1
Garofano, A.2
Kerscher, S.J.3
Brandt, U.4
-
2
-
-
0033772264
-
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
-
Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, and Wissinger B. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 26: 211-215, 2000.
-
(2000)
Nat Genet
, vol.26
, pp. 211-215
-
-
Alexander, C.1
Votruba, M.2
Pesch, U.E.3
Thiselton, D.L.4
Mayer, S.5
Moore, A.6
Rodriguez, M.7
Kellner, U.8
Leo-Kottler, B.9
Auburger, G.10
Bhattacharya, S.S.11
Wissinger, B.12
-
3
-
-
1842428673
-
Percolation and criticality in a mitochondrial network
-
Aon MA, Cortassa S, and O'Rourke B. Percolation and criticality in a mitochondrial network. Proc Natl Acad Sci USA 101: 4447-4452, 2004.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 4447-4452
-
-
Aon, M.A.1
Cortassa, S.2
O'Rourke, B.3
-
4
-
-
0037593949
-
Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity
-
Bach D, Pich S, Soriano FX, Vega N, Baumgartner B, Oriola J, Daugaard JR, Lloberas J, Camps M, Zierath JR, Rabasa-Lhoret R, Wallberg-Henriksson H, Laville M, Palacin M, Vidal H, Rivera F, Brand M, and Zorzano A. Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity. J Biol Chem 278: 17190-17197, 2003.
-
(2003)
J Biol Chem
, vol.278
, pp. 17190-17197
-
-
Bach, D.1
Pich, S.2
Soriano, F.X.3
Vega, N.4
Baumgartner, B.5
Oriola, J.6
Daugaard, J.R.7
Lloberas, J.8
Camps, M.9
Zierath, J.R.10
Rabasa-Lhoret, R.11
Wallberg-Henriksson, H.12
Laville, M.13
Palacin, M.14
Vidal, H.15
Rivera, F.16
Brand, M.17
Zorzano, A.18
-
5
-
-
0029920323
-
Static cytofluorimetry and fluorescence morphology of mitochondria and DNA in proliferating fibroblasts
-
Barni S, Sciola L, Spano A, and Pippia P. Static cytofluorimetry and fluorescence morphology of mitochondria and DNA in proliferating fibroblasts. Biotech Histochem 71: 66-70, 1996.
-
(1996)
Biotech Histochem
, vol.71
, pp. 66-70
-
-
Barni, S.1
Sciola, L.2
Spano, A.3
Pippia, P.4
-
6
-
-
0030029056
-
Mitochondrial nitric oxide synthase: A ubiquitous regulator of oxidative phosphorylation
-
Bates TE, Loesch A, Burnstock G, and Clark JB. Mitochondrial nitric oxide synthase: a ubiquitous regulator of oxidative phosphorylation. Biochem Biophys Res Commun 218: 40-44, 1996.
-
(1996)
Biochem Biophys Res Commun
, vol.218
, pp. 40-44
-
-
Bates, T.E.1
Loesch, A.2
Burnstock, G.3
Clark, J.B.4
-
7
-
-
4043147798
-
Mitochondrial superoxide: Production, biological effects, and activation of uncoupling proteins
-
Brand MD, Affourtit C, Esteves TC, Green K, Lambert AJ, Miwa S, Pakay JL, and Parker N. Mitochondrial superoxide: production, biological effects, and activation of uncoupling proteins. Free Radic Biol Med 37: 755-767, 2004.
-
(2004)
Free Radic Biol Med
, vol.37
, pp. 755-767
-
-
Brand, M.D.1
Affourtit, C.2
Esteves, T.C.3
Green, K.4
Lambert, A.J.5
Miwa, S.6
Pakay, J.L.7
Parker, N.8
-
8
-
-
4544235673
-
Calcium, ATP, and ROS: A mitochondrial love-hate triangle
-
Brookes PS, Yoon Y, Robotham JL, Anders MW, and Sheu SS. Calcium, ATP, and ROS: a mitochondrial love-hate triangle. Am J Physiol Cell Physiol 287: C817-C833, 2004.
-
(2004)
Am J Physiol Cell Physiol
, vol.287
-
-
Brookes, P.S.1
Yoon, Y.2
Robotham, J.L.3
Anders, M.W.4
Sheu, S.S.5
-
9
-
-
0034682974
-
Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene
-
Budde SM, van den Heuvel LP, Janssen AJ, Smeets RJ, Buskens CA, DeMeirleir L, Van Coster R, Baethmann M, Voit T, Trijbels JMF, and Smeitink JAM. Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. Biochem Biophys Res Commun 275: 63-68, 2000.
-
(2000)
Biochem Biophys Res Commun
, vol.275
, pp. 63-68
-
-
Budde, S.M.1
Van Den Heuvel, L.P.2
Janssen, A.J.3
Smeets, R.J.4
Buskens, C.A.5
Demeirleir, L.6
Van Coster, R.7
Baethmann, M.8
Voit, T.9
Trijbels, J.M.F.10
Smeitink, J.A.M.11
-
10
-
-
0942288076
-
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I
-
Budde SM, van den Heuvel LP, Smeets RJ, Skladal D, Mayr JA, Boelen C, Petruzzella V, Papa S, and Smeitink JAM. Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I. J Inherit Metab Dis 26: 813-815, 2003.
-
(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.M.9
-
11
-
-
1842665662
-
Mitochondrial signaling: The retrograde response
-
Butow RA and Avadhani NG. Mitochondrial signaling: the retrograde response. Mol Cell 14: 1-15, 2004.
-
(2004)
Mol Cell
, vol.14
, pp. 1-15
-
-
Butow, R.A.1
Avadhani, N.G.2
-
12
-
-
0004786630
-
Calcium and the regulation of intramitochondrial dehydrogenases
-
Denton RM and McCormack JG. Calcium and the regulation of intramitochondrial dehydrogenases. Methods Toxicol 1: 390-403, 1993.
-
(1993)
Methods Toxicol
, vol.1
, pp. 390-403
-
-
Denton, R.M.1
McCormack, J.G.2
-
13
-
-
0034668833
-
Mitochondria and calcium: From cell signalling to cell death
-
Duchen MR. Mitochondria and calcium: from cell signalling to cell death. J Physiol 529: 57-68, 2000.
-
(2000)
J Physiol
, vol.529
, pp. 57-68
-
-
Duchen, M.R.1
-
14
-
-
0037162481
-
Energetic communication between mitochondria and nucleus directed by catalytic phosphotransfer
-
Dzeja PP, Bortolon R, Perez-Terzic C, Holmuhamedov EK, and Terzic A. Energetic communication between mitochondria and nucleus directed by catalytic phosphotransfer. Proc Natl Acad Sci USA 99: 10156-10161, 2002.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 10156-10161
-
-
Dzeja, P.P.1
Bortolon, R.2
Perez-Terzic, C.3
Holmuhamedov, E.K.4
Terzic, A.5
-
15
-
-
84963057514
-
Abnormal mitochondria in cultured sinovial fibroblasts in rheumatoid and reactive arthritis?
-
Eerola E, Pulkki K, Pelliniemi LJ, Vuorio E, and Toivanen A. Abnormal mitochondria in cultured sinovial fibroblasts in rheumatoid and reactive arthritis? Br J Rheumatol 27: 128-131, 1988.
-
(1988)
Br J Rheumatol
, vol.27
, pp. 128-131
-
-
Eerola, E.1
Pulkki, K.2
Pelliniemi, L.J.3
Vuorio, E.4
Toivanen, A.5
-
16
-
-
0037133634
-
Fast 100-nm resolution three-dimensional microscope reveals structural plasticity of mitochondria in live yeast
-
Egner A, Jakobs S, and Hell SW. Fast 100-nm resolution three-dimensional microscope reveals structural plasticity of mitochondria in live yeast. Proc Natl Acad Sci USA 99: 3370-3375, 2002.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 3370-3375
-
-
Egner, A.1
Jakobs, S.2
Hell, S.W.3
-
18
-
-
0034717114
-
Mitochondrial DNA depletion causes morphological changes in the mitochondrial reticulum of cultured human cells
-
Gilkerson RW, Margineantu DH, Capaldi RA, and Selker JML. Mitochondrial DNA depletion causes morphological changes in the mitochondrial reticulum of cultured human cells. FEBS Lett 474: 1-6, 2000.
-
(2000)
FEBS Lett
, vol.474
, pp. 1-6
-
-
Gilkerson, R.W.1
Margineantu, D.H.2
Capaldi, R.A.3
Selker, J.M.L.4
-
19
-
-
0019867785
-
Status of mitochondria in living human fibroblasts during growth and senescence in vitro: Use of the laser dye rhodamine 123
-
Goldstein S and Korczack LB. Status of mitochondria in living human fibroblasts during growth and senescence in vitro: use of the laser dye rhodamine 123. J Cell Biol 91: 392-398, 1981.
-
(1981)
J Cell Biol
, vol.91
, pp. 392-398
-
-
Goldstein, S.1
Korczack, L.B.2
-
20
-
-
0030936211
-
Mitochondrial morphology and intracellular calcium homeostasis in cytochrome oxidase-deficient human fibroblasts
-
Handran SD, Werth JL, DeVivo DC, and Rothman SM. Mitochondrial morphology and intracellular calcium homeostasis in cytochrome oxidase-deficient human fibroblasts. Neurobiol Dis 3: 287-298, 1997.
-
(1997)
Neurobiol Dis
, vol.3
, pp. 287-298
-
-
Handran, S.D.1
Werth, J.L.2
Devivo, D.C.3
Rothman, S.M.4
-
21
-
-
0028262917
-
Human mitochondria and mitochondrial genome function as a single dynamic cellular unit
-
Hayashi JI, Takemitsu M, Goto YI, and Nonaka I. Human mitochondria and mitochondrial genome function as a single dynamic cellular unit. J Cell Biol 125: 43-50, 1994.
-
(1994)
J Cell Biol
, vol.125
, pp. 43-50
-
-
Hayashi, J.I.1
Takemitsu, M.2
Goto, Y.I.3
Nonaka, I.4
-
22
-
-
0035112481
-
Contractile activity-induced mitochondrial biogenesis in skeletal muscle
-
Hood DA. Contractile activity-induced mitochondrial biogenesis in skeletal muscle. J Appl Physiol 90: 1137-1157, 2001.
-
(2001)
J Appl Physiol
, vol.90
, pp. 1137-1157
-
-
Hood, D.A.1
-
23
-
-
3943071150
-
Cytochrome c-mediated apoptosis
-
Jiang X and Wang X. Cytochrome c-mediated apoptosis. Annu Rev Biochem 73: 87-106, 2004.
-
(2004)
Annu Rev Biochem
, vol.73
, pp. 87-106
-
-
Jiang, X.1
Wang, X.2
-
24
-
-
0033598828
-
Regulation of mitochondrial ATP synthesis by calcium: Evidence for a long-term metabolic priming
-
Jouaville LS, Pinton P, Bastianutto C, Rutter GA, and Rizzuto R. Regulation of mitochondrial ATP synthesis by calcium: evidence for a long-term metabolic priming. Proc Natl Acad Sci USA 96: 13807-13812, 1999.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 13807-13812
-
-
Jouaville, L.S.1
Pinton, P.2
Bastianutto, C.3
Rutter, G.A.4
Rizzuto, R.5
-
25
-
-
0031581107
-
Visualization of mitochondria with green fluorescent protein in cultured fibroblasts from patients with mitochondrial diseases
-
Kanazawa M, Yano M, Namchai C, Yamamoto S, Ohtake A, Takayanagi M, Mori M, and Niimi H. Visualization of mitochondria with green fluorescent protein in cultured fibroblasts from patients with mitochondrial diseases. Biochem Biophys Res Commun 239: 580-584, 1997.
-
(1997)
Biochem Biophys Res Commun
, vol.239
, pp. 580-584
-
-
Kanazawa, M.1
Yano, M.2
Namchai, C.3
Yamamoto, S.4
Ohtake, A.5
Takayanagi, M.6
Mori, M.7
Niimi, H.8
-
26
-
-
8844244960
-
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency
-
Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HM, Ryan MT, and Thorburn DR. NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. J Clin Invest 114: 837-845, 2004.
-
(2004)
J Clin Invest
, vol.114
, pp. 837-845
-
-
Kirby, D.M.1
Salemi, R.2
Sugiana, C.3
Ohtake, A.4
Parry, L.5
Bell, K.M.6
Kirk, E.P.7
Boneh, A.8
Taylor, R.W.9
Dahl, H.M.10
Ryan, M.T.11
Thorburn, D.R.12
-
27
-
-
0034950517
-
2+ signals are reshaped during propagation to subcellular regions
-
2+ signals are reshaped during propagation to subcellular regions. Biophys J 81: 57-65, 2001.
-
(2001)
Biophys J
, vol.81
, pp. 57-65
-
-
Koopman, W.J.H.1
Scheenen, W.J.J.M.2
Erringon, R.J.3
Willems, P.H.G.M.4
Bindels, R.J.M.5
Roubos, E.W.6
Jenks, B.G.7
-
28
-
-
19644398798
-
-.-mediated mitochondrial outgrowth
-
-.-mediated mitochondrial outgrowth. Am J Physiol Cell Physiol 288: C1440-C1450, 2005.
-
(2005)
Am J Physiol Cell Physiol
, vol.288
-
-
Koopman, W.J.H.1
Verkaart, S.2
Visch, H.J.3
Van Der Westhuizen, F.H.4
Murphy, M.P.5
Van Den Heuvel, L.W.P.J.6
Smeitink, J.A.M.7
Willems, P.8
-
30
-
-
0032471351
-
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome
-
Loeffen JL, Smeitink JAM, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels JMF, Hamel B, Mullaart R, and van den Heuvel LP. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet 63: 1598-1608, 1998.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1598-1608
-
-
Loeffen, J.L.1
Smeitink, J.A.M.2
Triepels, R.3
Smeets, R.4
Schuelke, M.5
Sengers, R.6
Trijbels, J.M.F.7
Hamel, B.8
Mullaart, R.9
Van Den Heuvel, L.P.10
-
31
-
-
0033967568
-
Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects
-
Loeffen JL, Smeitink JA, Trijbels JMF, Janssen AJ, Triepels RH, Sengers RC, and van den Heuvel LP. Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat 15: 123-34, 2000.
-
(2000)
Hum Mutat
, vol.15
, pp. 123-134
-
-
Loeffen, J.L.1
Smeitink, J.A.2
Trijbels, J.M.F.3
Janssen, A.J.4
Triepels, R.H.5
Sengers, R.C.6
Van Den Heuvel, L.P.7
-
32
-
-
0035132188
-
Mutations in the complex INDUFS2 gene of patients with cardiomyopathy and encephalomyopathy
-
Loeffen JL, Elpeleg O, Smeitink J, Smeets R, Stockler-Ipsiroglu S, Mandel H, Sengers R, Trijbels JMF, and van den Heuvel LP. Mutations in the complex INDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. Ann Neurol 49: 195-201, 2001.
-
(2001)
Ann Neurol
, vol.49
, pp. 195-201
-
-
Loeffen, J.L.1
Elpeleg, O.2
Smeitink, J.3
Smeets, R.4
Stockler-Ipsiroglu, S.5
Mandel, H.6
Sengers, R.7
Trijbels, J.M.F.8
Van Den Heuvel, L.P.9
-
33
-
-
1842338036
-
Excessive formation of hydroxyl radicals and aldehydic lipid peroxidation products in cultured skin fibroblasts from patients with complex I deficiency
-
Luo X, Pitkänen S, Kassovska-Bratinova S, Robinson BH, and Lehotay DC. Excessive formation of hydroxyl radicals and aldehydic lipid peroxidation products in cultured skin fibroblasts from patients with complex I deficiency. J Clin Invest 99: 2877-2882, 1997.
-
(1997)
J Clin Invest
, vol.99
, pp. 2877-2882
-
-
Luo, X.1
Pitkänen, S.2
Kassovska-Bratinova, S.3
Robinson, B.H.4
Lehotay, D.C.5
-
34
-
-
0036242518
-
Cell cycle dependent morphology changes and associated mitochondrial DNA redistribution in mitochondria of human cell lines
-
Margineantu DH, Cox WG, Sundell L, Sherwood SW, Beechem JM, and Capaldi RA. Cell cycle dependent morphology changes and associated mitochondrial DNA redistribution in mitochondria of human cell lines. Mitochondrion 1: 425-435, 2004.
-
(2004)
Mitochondrion
, vol.1
, pp. 425-435
-
-
Margineantu, D.H.1
Cox, W.G.2
Sundell, L.3
Sherwood, S.W.4
Beechem, J.M.5
Capaldi, R.A.6
-
35
-
-
0037213306
-
Disruption of mitochondrial networks by the human cytomegalovirus UL37 gene product viral mitochondrion-localized inhibitor of apoptosis
-
McCormick AL, Smith VL, Chow D, and Mocarski ES. Disruption of mitochondrial networks by the human cytomegalovirus UL37 gene product viral mitochondrion-localized inhibitor of apoptosis. J Virol 77: 631-641, 2003.
-
(2003)
J Virol
, vol.77
, pp. 631-641
-
-
McCormick, A.L.1
Smith, V.L.2
Chow, D.3
Mocarski, E.S.4
-
36
-
-
0346814090
-
Superoxide activates uncoupling proteins by generating carbon-centered radicals and initiating lipid peroxidation: Studies using a mitochondria- targeted spin trap derived from α-phenyl-N-tert-butylnitrone
-
Murphy MP, Echtay KS, Blaikle FH, Asin-Cayuela J, Cocheme HM, Green K, Buckingham JA, Taylor ER, Hurrell F, Hughes G, Miwa S, Cooper CE, Svistunenko DA, Smith RA, and Brand MD. Superoxide activates uncoupling proteins by generating carbon-centered radicals and initiating lipid peroxidation: studies using a mitochondria-targeted spin trap derived from α-phenyl-N-tert- butylnitrone. J Biol Chem 278: 48534-48545, 2003.
-
(2003)
J Biol Chem
, vol.278
, pp. 48534-48545
-
-
Murphy, M.P.1
Echtay, K.S.2
Blaikle, F.H.3
Asin-Cayuela, J.4
Cocheme, H.M.5
Green, K.6
Buckingham, J.A.7
Taylor, E.R.8
Hurrell, F.9
Hughes, G.10
Miwa, S.11
Cooper, C.E.12
Svistunenko, D.A.13
Smith, R.A.14
Brand, M.D.15
-
38
-
-
0023898269
-
Mitochondrial abnormalities in choroids plexus of Leigh disease
-
Ohama E, Ikuta F, and Nakamura N. Mitochondrial abnormalities in choroids plexus of Leigh disease. Brain Dev 10: 30-35, 1988.
-
(1988)
Brain Dev
, vol.10
, pp. 30-35
-
-
Ohama, E.1
Ikuta, F.2
Nakamura, N.3
-
39
-
-
2042459176
-
Altered mitochondrial structure and motion dynamics in living cells with energy metabolism defects revealed by real time microscope imaging
-
Pham NA, Richardson T, Cameron J, Chue B, and Robinson BH. Altered mitochondrial structure and motion dynamics in living cells with energy metabolism defects revealed by real time microscope imaging. Microsc Microanal 10: 247-260, 2004.
-
(2004)
Microsc Microanal
, vol.10
, pp. 247-260
-
-
Pham, N.A.1
Richardson, T.2
Cameron, J.3
Chue, B.4
Robinson, B.H.5
-
40
-
-
0842325793
-
Energy substrate modulates mitochondrial structure and oxidative capacity in cancer cells
-
Rossignol R, Gilkerson R, Aggeler R, Yamagata K, Remington SJ, and Capaldi RA. Energy substrate modulates mitochondrial structure and oxidative capacity in cancer cells. Cancer Res 64: 985-993, 2004.
-
(2004)
Cancer Res
, vol.64
, pp. 985-993
-
-
Rossignol, R.1
Gilkerson, R.2
Aggeler, R.3
Yamagata, K.4
Remington, S.J.5
Capaldi, R.A.6
-
41
-
-
0032977683
-
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
-
Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels JMF, Stockler-Ipsiroglu S, and van den Heuvel LP. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nat Genet 21: 260-261, 1999.
-
(1999)
Nat Genet
, vol.21
, pp. 260-261
-
-
Schuelke, M.1
Smeitink, J.2
Mariman, E.3
Loeffen, J.4
Plecko, B.5
Trijbels, J.M.F.6
Stockler-Ipsiroglu, S.7
Van Den Heuvel, L.P.8
-
42
-
-
0035146891
-
Mitochondrial filaments and clusters as intracellular power transmitting cables
-
Skulachev VP. Mitochondrial filaments and clusters as intracellular power transmitting cables. Trends Biochem Sci 26: 23-29, 2001.
-
(2001)
Trends Biochem Sci
, vol.26
, pp. 23-29
-
-
Skulachev, V.P.1
-
43
-
-
0031694064
-
Nuclear genes of human complex I of the mitochondrial electron transport chain: State of the art
-
Smeitink JAM, Loeffen LCM, Triepels RH, Smeets RPJ, Trijbels JMF, and van den Heuvel LP. Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art. Hum Mol Genet 10: 1573-1579, 1998.
-
(1998)
Hum Mol Genet
, vol.10
, pp. 1573-1579
-
-
Smeitink, J.A.M.1
Loeffen, L.C.M.2
Triepels, R.H.3
Smeets, R.P.J.4
Trijbels, J.M.F.5
Van Den Heuvel, L.P.6
-
44
-
-
0033358590
-
Human mitochondrial complex I in health and disease
-
Smeitink JAM and van den Heuvel LP. Human mitochondrial complex I in health and disease. Am J Hum Genet 64: 1505-1510, 1999.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1505-1510
-
-
Smeitink, J.A.M.1
Van Den Heuvel, L.P.2
-
45
-
-
0034778058
-
Human NADH:ubiquinone oxidoreductase
-
Smeitink JAM, Sengers R, Trijbels F, van den Heuvel LP. Human NADH:ubiquinone oxidoreductase. J Bioenerg Biomembr 33: 259-66, 2001.
-
(2001)
J Bioenerg Biomembr
, vol.33
, pp. 259-266
-
-
Smeitink, J.A.M.1
Sengers, R.2
Trijbels, F.3
Van Den Heuvel, L.P.4
-
47
-
-
0033568027
-
2+ signals
-
2+ signals. EMBO J 18: 4999-5008, 1999.
-
(1999)
EMBO J
, vol.18
, pp. 4999-5008
-
-
Tinel, H.1
Cancela, J.M.2
Mogami, H.3
Gerasimenko, J.V.4
Gerasimenko, O.V.5
Tepikin, A.V.6
Petersen, O.H.7
-
48
-
-
0033050180
-
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I
-
Triepels RH, van den Heuvel LP, Loeffen JL, Buskens CA, Smeets RJ, Rubio Gozalbo ME, Budde SM, Mariman EC, Wijburg FA, Barth PG, Trijbels JMF, and Smeitink JAM. Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Ann Neurol 45: 787-790, 1999.
-
(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.F.11
Smeitink, J.A.M.12
-
49
-
-
0035937748
-
Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns
-
Triepels RH, Hanson BJ, van den Heuvel LP, Sundell L, Marusich MF, Smeitink JAM, and Capaldi RA. Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns. J Biol Chem 276: 8892-8897, 2001.
-
(2001)
J Biol Chem
, vol.276
, pp. 8892-8897
-
-
Triepels, R.H.1
Hanson, B.J.2
Van Den Heuvel, L.P.3
Sundell, L.4
Marusich, M.F.5
Smeitink, J.A.M.6
Capaldi, R.A.7
-
50
-
-
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 LP, Smeitink JAM, and Nijtmans LG. 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.
-
(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.A.M.5
Nijtmans, L.G.6
-
51
-
-
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 LP, Ruitenbeek W, Smeets R, Gelman-Kohan Z, Elpeleg O, Loeffen J, Trijbels JMF, Mariman E, de Bruijn D, and Smeitink JAM. 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: 262-268, 1998.
-
(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, J.M.F.7
Mariman, E.8
De Bruijn, D.9
Smeitink, J.A.M.10
-
52
-
-
0032976998
-
Functional and morphological abnormalities of mitochondria harbouring the tRNA(Leu)(BUR) mutation in mitochondrial DNA derived from patients with maternally inherited diabetes and deafness (MIDD) and progressive kidney disease
-
Van den Ouweland JM, Maechler P, Wollheim CB, Attardi G, and Maassen JA. Functional and morphological abnormalities of mitochondria harbouring the tRNA(Leu)(BUR) mutation in mitochondrial DNA derived from patients with maternally inherited diabetes and deafness (MIDD) and progressive kidney disease. Diabetologia 42: 485-492, 1999.
-
(1999)
Diabetologia
, vol.42
, pp. 485-492
-
-
Van Den Ouweland, J.M.1
Maechler, P.2
Wollheim, C.B.3
Attardi, G.4
Maassen, J.A.5
-
53
-
-
0037312846
-
Human mitochondrial complex I deficiency: Investigating transcriptional responses by microarray
-
Van der Westhuizen FH, van den Heuvel LP, Smeets R, Veltman JA, Pfundt R, van Kessel AG, Ursing BM, and Smeitink JA. Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray. Neuropediatrics 34: 14-22, 2003.
-
(2003)
Neuropediatrics
, vol.34
, pp. 14-22
-
-
Van Der Westhuizen, F.H.1
Van Den Heuvel, L.P.2
Smeets, R.3
Veltman, J.A.4
Pfundt, R.5
Van Kessel, A.G.6
Ursing, B.M.7
Smeitink, J.A.8
-
54
-
-
4644326685
-
2+ handling in human complex I deficiency
-
2+ handling in human complex I deficiency. J Biol Chem 279: 40328-40336, 2004.
-
(2004)
J Biol Chem
, vol.279
, pp. 40328-40336
-
-
Visch, H.J.1
Rutter, G.A.2
Koopman, W.J.3
Koenderink, J.B.4
Verkaart, S.5
De Groot, T.6
Varadi, A.7
Mitchell, K.J.8
Van Den Heuvel, L.P.9
Smeitink, J.A.10
Willems, P.H.G.M.11
-
55
-
-
1842557955
-
Complex I assembly: A puzzling problem
-
Vogel R, Nijtmans L, Ugalde C, van den Heuvel LP, and Smeitink JAM. Complex I assembly: a puzzling problem. Curr Opin Neurol 17: 179-86, 2004.
-
(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.A.M.5
-
56
-
-
0021071725
-
Diazepam inhibits cell respiration and induces fragmentation of mitochondrial reticulum
-
Vorobjev IA and Zorov DB. Diazepam inhibits cell respiration and induces fragmentation of mitochondrial reticulum. FEBS Lett 14: 311-314, 1983.
-
(1983)
FEBS Lett
, vol.14
, pp. 311-314
-
-
Vorobjev, I.A.1
Zorov, D.B.2
-
57
-
-
0033525773
-
Mitochondrial diseases in man and mouse
-
Wallace DC. Mitochondrial diseases in man and mouse. Science 283: 1482-1488, 1999.
-
(1999)
Science
, vol.283
, pp. 1482-1488
-
-
Wallace, D.C.1
-
58
-
-
1842582613
-
Development and characterization of a conditional mitochondrial complex I assembly system
-
Yadava N, Houchens T, Potluri P, and Scheffler IE. Development and characterization of a conditional mitochondrial complex I assembly system. J Biol Chem 279: 12406-12413, 2004.
-
(2004)
J Biol Chem
, vol.279
, pp. 12406-12413
-
-
Yadava, N.1
Houchens, T.2
Potluri, P.3
Scheffler, I.E.4
|