-
1
-
-
84855606038
-
A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family
-
doi:10.1007/s10545-008-1049-9
-
Anderson SL, Chung WK, Frezzo J (2008) A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. J Inherit Metab Dis. doi:10.1007/s10545-008-1049-9
-
(2008)
J Inherit Metab Dis
-
-
Anderson, S.L.1
Chung, W.K.2
Frezzo, J.3
-
2
-
-
13944278132
-
Mitochondria, oxidants, and aging
-
DOI 10.1016/j.cell.2005.02.001
-
Balaban RS, Nemoto S, Finkel T (2005) Mitochondria, oxidants, and aging. Cell 120:483-495 (Pubitemid 40269763)
-
(2005)
Cell
, vol.120
, Issue.4
, pp. 483-495
-
-
Balaban, R.S.1
Nemoto, S.2
Finkel, T.3
-
3
-
-
0037943964
-
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt-1) in the NDUFS4 gene in Leigh syndrome
-
Benit P, Steffann J, Lebon S et al (2003) Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome. Hum Genet 112:563-566 (Pubitemid 36869050)
-
(2003)
Human Genetics
, vol.112
, Issue.5-6
, pp. 563-566
-
-
Benit, P.1
Steffann, J.2
Lebon, S.3
Chretien, D.4
Kadhom, N.5
De Lonlay, P.6
Goldenberg, A.7
Dumez, Y.8
Dommergues, M.9
Rustin, P.10
Munnich, A.11
Rotig, A.12
-
4
-
-
52449131120
-
The variability of the harlequinmouse phenotype resembles that of humanmitochondrial-complex I-deficiency syndromes
-
Benit P, Goncalves S, Dassa EP et al (2008) The variability of the harlequinmouse phenotype resembles that of humanmitochondrial-complex I-deficiency syndromes. PLoS ONE 3:e3208
-
(2008)
PLoS ONE
, vol.3
-
-
Benit, P.1
Goncalves, S.2
Dassa, E.P.3
-
5
-
-
0038125598
-
Calcium signalling: Dynamics, homeostasis and remodelling
-
DOI 10.1038/nrm1155
-
Berridge MJ, Bootman MD, Roderick HL (2003) Calcium signalling: dynamics, homeostasis and remodelling. Nat Rev Mol Cell Biol 4:517-529 (Pubitemid 36773404)
-
(2003)
Nature Reviews Molecular Cell Biology
, vol.4
, Issue.7
, pp. 517-529
-
-
Berridge, M.J.1
Bootman, M.D.2
Roderick, H.L.3
-
6
-
-
1542287938
-
Neuropathological Aspects of Mitochondrial DNA Disease
-
DOI 10.1023/B:NERE.0000014821.07269.8d
-
Betts J, Lightowlers RN, Turnbull DM(2004) Neuropathological aspects of mitochondrial DNA disease. Neurochem Res 29:505-511 (Pubitemid 38295001)
-
(2004)
Neurochemical Research
, vol.29
, Issue.3
, pp. 505-511
-
-
Betts, J.1
Lightowlers, R.N.2
Turnbull, D.M.3
-
7
-
-
33746329868
-
Energy converting NADH:quinone oxidoreductase (complex I)
-
Brandt U (2006) Energy converting NADH:quinone oxidoreductase (complex I). Annu Rev Biochem 75:69-92
-
(2006)
Annu Rev Biochem
, vol.75
, pp. 69-92
-
-
Brandt, U.1
-
8
-
-
0032773120
-
A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency
-
DOI 10.1038/11396
-
Brini M, Pinton P, King MP et al (1999) A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency. Nat Med 5:951-954 (Pubitemid 29372425)
-
(1999)
Nature Medicine
, vol.5
, Issue.8
, pp. 951-954
-
-
Brini, M.1
Pinton, P.2
King, M.P.3
Davidson, M.4
Schon, E.A.5
Rizzuto, R.6
-
9
-
-
0036487995
-
The role of mtDNA background in disease expression: A new primary LHON mutation associated with Western Eurasian haplogroup J
-
DOI 10.1007/s00439-001-0660-8
-
Brown MD, Starikovskaya E, Derbeneva O et al (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 (Pubitemid 36067429)
-
(2002)
Human Genetics
, vol.110
, Issue.2
, 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
-
10
-
-
0036838444
-
The human complex I NDUFS4 subunit: From gene structure to function and pathology
-
DOI 10.1016/S1567-7249(02)00035-1, PII S1567724902000351
-
Budde SM, van den Heuvel LP, Smeitink JA (2002) The human complex I NDUFS4 subunit: from gene structure to function and pathology. Mitochondrion 1-2:109-115 (Pubitemid 35214602)
-
(2002)
Mitochondrion
, vol.2
, Issue.1-2
, pp. 109-115
-
-
Budde, S.M.S.1
Van Den, H.L.P.W.J.2
Smeitink, J.A.M.3
-
11
-
-
0942288076
-
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I
-
DOI 10.1023/B:BOLI.0000010003.14113.af
-
Budde SM, van den Heuvel LP, Smeets RJ et al (2003) Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I. J Inherit Metab Dis 26:813-815 (Pubitemid 38139383)
-
(2003)
Journal of Inherited Metabolic Disease
, vol.26
, Issue.8
, pp. 813-815
-
-
Budde, S.M.S.1
Van Den, H.L.P.W.J.2
Smeets, R.J.P.3
Skladal, D.4
Mayr, J.A.5
Boelen, C.6
Petruzzella, V.7
Papa, S.8
Smeitink, J.A.M.9
-
12
-
-
8844252230
-
Rotenone, deguelin, their metabolites, and the rat model of Parkinson's disease
-
DOI 10.1021/tx049867r
-
Caboni P, Sherer TB, Zhang N (2004) Rotenone, deguelin, their metabolites, and the rat model of Parkinson's disease. Chem Res Toxicol 17:1540-1548 (Pubitemid 39532322)
-
(2004)
Chemical Research in Toxicology
, vol.17
, Issue.11
, pp. 1540-1548
-
-
Caboni, P.1
Sherer, T.B.2
Zhang, N.3
Taylor, G.4
Na, H.M.5
Greenamyre, J.T.6
Casida, J.E.7
-
13
-
-
1542426641
-
AIF and cyclophilin A cooperate in apoptosis-associated chromatinolysis
-
DOI 10.1038/sj.onc.1207279
-
Cande C, Vahsen N, Kouranti I et al (2004) AIF and cyclophilin A cooperate in apoptosis-associated chromatinolysis. Oncogene 23:1514-1521 (Pubitemid 38406513)
-
(2004)
Oncogene
, vol.23
, Issue.8
, pp. 1514-1521
-
-
Cande, C.1
Vahsen, N.2
Kouranti, I.3
Schmitt, E.4
Daugas, E.5
Spahr, C.6
Luban, J.7
Kroemer, R.T.8
Giordanetto, F.9
Garrido, C.10
Penninger, J.M.11
Kroemer, G.12
-
14
-
-
0037184987
-
Definition of the nuclear encoded protein composition of bovine heart mitochondrial complex I. Identification of two new subunits
-
Carroll J, Shannon RJ, Fearnley IM et al (2002) Definition of the nuclear encoded protein composition of bovine heart mitochondrial complex I. Identification of two new subunits. J Biol Chem 277:50311-50317
-
(2002)
J Biol Chem
, vol.277
, pp. 50311-50317
-
-
Carroll, J.1
Shannon, R.J.2
Fearnley, I.M.3
-
15
-
-
33748341710
-
Dissociating the dual roles of apoptosis-inducing factor in maintaining mitochondrial structure and apoptosis
-
DOI 10.1038/sj.emboj.7601276, PII 7601276
-
Cheung EC, Joza N, Steenaart NA et al (2006) Dissociating the dual roles of apoptosis-inducing factor in maintaining mitochondrial structure and apoptosis. EMBO J 25:4061-4073 (Pubitemid 44338747)
-
(2006)
EMBO Journal
, vol.25
, Issue.17
, pp. 4061-4073
-
-
Cheung, E.C.C.1
Joza, N.2
Steenaart, N.A.E.3
McClellan, K.A.4
Neuspiel, M.5
McNamara, S.6
MacLaurin, J.G.7
Rippstein, P.8
Park, D.S.9
Shore, G.C.10
McBride, H.M.11
Penninger, J.M.12
Slack, R.S.13
-
16
-
-
54449089025
-
Mitochondrial complex I inhibition is not required for dopaminergic neuron death induced by rotenone, MPP+, or paraquat
-
Choi WS, Kruse SE, Palmiter RD et al (2008) Mitochondrial complex I inhibition is not required for dopaminergic neuron death induced by rotenone, MPP+, or paraquat. Proc Natl Acad Sci U S A 105: 15136-15141
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 15136-15141
-
-
Choi, W.S.1
Kruse, S.E.2
Palmiter, R.D.3
-
17
-
-
0027526490
-
Maternally inherited Leigh syndrome
-
Ciafaloni E, Santorelli FM, Shanske S et al (1993) Maternally inherited Leigh syndrome. J Pediatr 122:419-422 (Pubitemid 23067225)
-
(1993)
Journal of Pediatrics
, vol.122
, Issue.3
, pp. 419-422
-
-
Ciafaloni, E.1
Santorelli, F.M.2
Shanske, S.3
Deonna, T.4
Roulet, E.5
Janzer, C.6
Pescia, G.7
DiMauro, S.8
-
18
-
-
34147115162
-
Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases
-
DOI 10.1542/peds.2006-1866
-
Debray FG, Lambert M, Chevalier I et al (2007) Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases. Pediatrics 119:722-733 (Pubitemid 46556671)
-
(2007)
Pediatrics
, vol.119
, Issue.4
, pp. 722-733
-
-
Debray, F.-G.1
Lambert, M.2
Chevalier, I.3
Robitaille, Y.4
Decarie, J.-C.5
Shoubridge, E.A.6
Robinson, B.H.7
Mitchell, G.A.8
-
19
-
-
0037972522
-
Mitochondrial respiratory-chain diseases
-
DOI 10.1056/NEJMra022567
-
DiMauro S, Schon EA (2003) Mitochondrial respiratory-chain diseases. N Engl J Med 348:2656-2668 (Pubitemid 36741594)
-
(2003)
New England Journal of Medicine
, vol.348
, Issue.26
, pp. 2656-2668
-
-
DiMauro, S.1
Schon, E.A.2
-
20
-
-
65249126910
-
Mitochondrial complex I deficiency: From organelle dysfunction to clinical disease
-
Distelmaier F, Koopman WJ, van den Heuvel LP (2009a) Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain 132(Pt 4):833-842
-
(2009)
Brain
, vol.132
, Issue.PART 4
, pp. 833-842
-
-
Distelmaier, F.1
Koopman, W.J.2
Van Den Heuvel, L.P.3
-
21
-
-
67349115188
-
The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency
-
Distelmaier F, Visch HJ, Smeitink JA (2009b) The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency. J Mol Med 87:515-522
-
(2009)
J Mol Med
, vol.87
, pp. 515-522
-
-
Distelmaier, F.1
Visch, H.J.2
Smeitink, J.A.3
-
22
-
-
26444468451
-
Downregulation of apoptosis-inducing factor in harlequin mutant mice sensitizes the myocardium to oxidative stress-related cell death and pressure overload-induced decompensation
-
van Empel V, Bertrand AT, Van der NR (2005) Downregulation of apoptosis-inducing factor in harlequin mutant mice sensitizes the myocardium to oxidative stress-related cell death and pressure overload-induced decompensation. Circ Res 496:e92-e101
-
(2005)
Circ Res
, vol.496
-
-
Van Empel, V.1
Bertrand, A.T.2
Van Der, N.R.3
-
23
-
-
33746789436
-
EUK-8, a Superoxide Dismutase and Catalase Mimetic, Reduces Cardiac Oxidative Stress and Ameliorates Pressure Overload-Induced Heart Failure in the Harlequin Mouse Mutant
-
DOI 10.1016/j.jacc.2006.02.075, PII S0735109706013398
-
van Empel V, Bertrand AT, van Oort RJ (2006) EUK-8, a superoxide dismutase and catalase mimetic, reduces cardiac oxidative stress and ameliorates pressure overload-induced heart failure in the harlequin mouse mutant. J Am Coll Cardiol 48:824-832 (Pubitemid 44175721)
-
(2006)
Journal of the American College of Cardiology
, vol.48
, Issue.4
, pp. 824-832
-
-
Van Empel, V.P.M.1
Bertrand, A.T.2
Van Oort, R.J.3
Van Der Nagel, R.4
Engelen, M.5
Van Rijen, H.V.6
Doevendans, P.A.7
Crijns, H.J.8
Ackerman, S.L.9
Sluiter, W.10
De Windt, L.J.11
-
24
-
-
33846846449
-
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy
-
Fernandez-Moreira D, Ugalde C, Smeets R (2007) Arenas J. X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. Ann Neurol 61:73-83
-
(2007)
Ann Neurol
, vol.61
, pp. 73-83
-
-
Fernandez-Moreira, D.1
Ugalde, C.2
Smeets, R.3
Arenas, J.4
-
25
-
-
0742282012
-
Severe impairment of nucleotide synthesis through inhibition of mitochondrial respiration
-
DOI 10.1081/NCN-200027545
-
Gattermann N, Dadak M, Hofhaus G (2004) Severe impairment of nucleotide synthesis through inhibition of mitochondrial respiration. Nucleosides Nucleotides Nucleic Acids 23:1275-1279 (Pubitemid 39625911)
-
(2004)
Nucleosides, Nucleotides and Nucleic Acids
, vol.23
, Issue.8-9
, pp. 1275-1279
-
-
Gattermann, N.1
Dadak, M.2
Hofhaus, G.3
Wulfert, M.4
Berneburg, M.5
Loeffler, M.L.6
Simmonds, H.A.7
-
26
-
-
34548379004
-
Apoptosis-inducing factor deficiency induces early mitochondrial degeneration in brain followed by progressive multifocal neuropathology
-
DOI 10.1097/NEN.0b013e318148b822, PII 0000507220070900000008
-
El Ghouzzi V, Csaba Z, Olivier P (2007) Apoptosis-inducing factor deficiency induces early mitochondrial degeneration in brain followed by progressive multifocal neuropathology. J Neuropathol Exp Neurol 66:838-847 (Pubitemid 47360959)
-
(2007)
Journal of Neuropathology and Experimental Neurology
, vol.66
, Issue.9
, pp. 838-847
-
-
El, G.V.1
Csaba, Z.2
Olivier, P.3
Lelouvier, B.4
Schwendimann, L.5
Dournaud, P.6
Verney, C.7
Rustin, P.8
Gressens, P.9
-
27
-
-
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
-
DOI 10.1086/301716
-
van den Heuvel L, Ruitenbeek W, Smeets R et al (1998) 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 (Pubitemid 28110767)
-
(1998)
American Journal of Human Genetics
, vol.62
, Issue.2
, pp. 262-268
-
-
Van Den, H.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
-
28
-
-
0038771142
-
The nuclear encoded subunits of complex I from bovine heart mitochondria
-
DOI 10.1016/S0005-2728(03)00059-8
-
Hirst J, Carroll J, Fearnley IM (2003) The nuclear encoded subunits of complex I from bovine heart mitochondria. Biochim Biophys Acta 1604:135-150 (Pubitemid 36776747)
-
(2003)
Biochimica et Biophysica Acta - Bioenergetics
, vol.1604
, Issue.3
, pp. 135-150
-
-
Hirst, J.1
Carroll, J.2
Fearnley, I.M.3
Shannon, R.J.4
Walker, J.E.5
-
30
-
-
33744515907
-
Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I
-
DOI 10.1074/jbc.M513387200
-
Iuso A, Scacco S, Piccoli C (2006) Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I. J Biol Chem 281:10374-10380 (Pubitemid 43864576)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.15
, pp. 10374-10380
-
-
Iuso, A.1
Scacco, S.2
Piccoli, C.3
Bellomo, F.4
Petruzzella, V.5
Trentadue, R.6
Minuto, M.7
Ripoli, M.8
Capitanio, N.9
Zeviani, M.10
Papa, S.11
-
31
-
-
0036523991
-
CIA30 complex I assembly factor: A candidate for human complex I deficiency?
-
Janssen R, Smeitink J, Smeets R (2002) CIA30 complex I assembly factor: a candidate for human complex I deficiency? Hum Genet 110:264-270
-
(2002)
Hum Genet
, vol.110
, pp. 264-270
-
-
Janssen, R.1
Smeitink, J.2
Smeets, R.3
-
33
-
-
33746878763
-
Mitochondrial complex I: Structure, function and pathology
-
DOI 10.1007/s10545-006-0362-4
-
Janssen RJ, Nijtmans LG, van den Heuvel LP (2006) Mitochondrial complex I: structure, function and pathology. J Inherit Metab Dis 29:499-515 (Pubitemid 44193264)
-
(2006)
Journal of Inherited Metabolic Disease
, vol.29
, Issue.4
, pp. 499-515
-
-
Janssen, R.J.R.J.1
Nijtmans, L.G.2
Van Den, H.L.P.3
Smeitink, J.A.M.4
-
34
-
-
27944475065
-
Muscle-specific loss of apoptosis-inducing factor leads to mitochondrial dysfunction, skeletal muscle atrophy, and dilated cardiomyopathy
-
DOI 10.1128/MCB.25.23.10261-10272.2005
-
Joza N, Oudit GY, Brown D et al (2005) Muscle-specific loss of apoptosis-inducing factor leads to mitochondrial dysfunction, skeletal muscle atrophy, and dilated cardiomyopathy. Mol Cell Biol 25:10261-10272 (Pubitemid 41681953)
-
(2005)
Molecular and Cellular Biology
, vol.25
, Issue.23
, pp. 10261-10272
-
-
Joza, N.1
Oudit, G.Y.2
Brown, D.3
Benit, P.4
Kassiri, Z.5
Vahsen, N.6
Benoit, L.7
Patel, M.M.8
Nowikovsky, K.9
Vassault, A.10
Backx, P.H.11
Wada, T.12
Kroemer, G.13
Rustin, P.14
Penninger, J.M.15
-
35
-
-
0037179691
-
The harlequin mouse mutation downregulates apoptosis-inducing factor
-
Klein JA, Longo-Guess CM, Rossmann MP et al (2002) The harlequin mouse mutation downregulates apoptosis-inducing factor. Nature 419:367-374
-
(2002)
Nature
, vol.419
, pp. 367-374
-
-
Klein, J.A.1
Longo-Guess, C.M.2
Rossmann, M.P.3
-
36
-
-
58149349815
-
Mitochondrial medicine: Entering the era of treatment
-
Koene S, Smeitink J (2009) Mitochondrial medicine: entering the era of treatment. J Intern Med 265:193-209
-
(2009)
J Intern Med
, vol.265
, pp. 193-209
-
-
Koene, S.1
Smeitink, J.2
-
37
-
-
19644398798
-
-.-mediated mitochondrial outgrowth
-
DOI 10.1152/ajpcell.00607.2004
-
Koopman WJ, Verkaart S, Visch HJ et al (2005a) Inhibition of complex I of the electron transport chain causes O2-. -mediated mitochondrial outgrowth. Am J Physiol Cell Physiol 288:C1440-C1450 (Pubitemid 40991081)
-
(2005)
American Journal of Physiology - Cell Physiology
, vol.288
, Issue.6
-
-
Koopman, W.J.H.1
Verkaart, S.2
Visch, H.-J.3
Van Der, W.F.H.4
Murphy, M.P.5
Van Den, H.L.W.P.J.6
Smeitink, J.A.M.7
Willems, P.H.G.M.8
-
38
-
-
25444446126
-
Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency
-
DOI 10.1152/ajpcell.00104.2005
-
Koopman WJ, Visch HJ, Verkaart S et al (2005b) Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency. Am J Physiol Cell Physiol 289:C881-C890 (Pubitemid 41361644)
-
(2005)
American Journal of Physiology - Cell Physiology
, vol.289
, Issue.4
-
-
Koopman, W.J.H.1
Visch, H.-J.2
Verkaart, S.3
Van Den, H.L.W.P.J.4
Smeitink, J.A.M.5
Willems, P.H.G.M.6
-
39
-
-
30344453413
-
Simultaneous quantitative measurement and automated analysis of mitochondrial morphology, mass, potential, and motility in living human skin fibroblasts
-
DOI 10.1002/cyto.a.20198
-
Koopman WJ, Visch HJ, Smeitink JA et al (2006) Simultaneous quantitative measurement and automated analysis of mitochondrial morphology, mass, potential, and motility in living human skin fibroblasts. Cytometry A 69:1-12 (Pubitemid 43062691)
-
(2006)
Cytometry Part A
, vol.69
, Issue.1
, pp. 1-12
-
-
Koopman, W.J.H.1
Visch, H.-J.2
Smeitink, J.A.M.3
Willems, P.H.G.M.4
-
40
-
-
34447100263
-
Partial complex I inhibition decreases mitochondrial motility and increases matrix protein diffusion as revealed by fluorescence correlation spectroscopy
-
DOI 10.1016/j.bbabio.2007.03.013, PII S000527280700076X
-
Koopman WJ, Hink MA, Verkaart S et al (2007a) Partial complex I inhibition decreases mitochondrial motility and increases matrix protein diffusion as revealed by fluorescence correlation spectroscopy. Biochim Biophys Acta 1767:940-947 (Pubitemid 47031093)
-
(2007)
Biochimica et Biophysica Acta - Bioenergetics
, vol.1767
, Issue.7
, pp. 940-947
-
-
Koopman, W.J.H.1
Hink, M.A.2
Verkaart, S.3
Visch, H.-J.4
Smeitink, J.A.M.5
Willems, P.H.G.M.6
-
41
-
-
34547128370
-
Human NADH: Ubiquinone oxidoreductase deficiency: Radical changes in mitochondrial morphology?
-
Koopman WJ, Verkaart S, Visch HJ (2007b) Human NADH: ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology? Am J Physiol Cell Physiol 293:C22-C29
-
(2007)
Am J Physiol Cell Physiol
, vol.293
-
-
Koopman, W.J.1
Verkaart, S.2
Visch, H.J.3
-
42
-
-
48249133697
-
Inherited complex I deficiency is associated with faster protein diffusion in the matrix of moving mitochondria
-
Koopman WJ, Distelmaier F, Hink MA et al (2008a) Inherited complex I deficiency is associated with faster protein diffusion in the matrix of moving mitochondria. Am J Physiol Cell Physiol 294:C1124-C1132
-
(2008)
Am J Physiol Cell Physiol
, vol.294
-
-
Koopman, W.J.1
Distelmaier, F.2
Hink, M.A.3
-
43
-
-
46349094407
-
Mitigation of NADH: Ubiquinone oxidoreductase deficiency by chronic Trolox treatment
-
Koopman WJ, Verkaart S, van Emst-de Vries SE et al (2008b) Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment. Biochim Biophys Acta 1777:853-859
-
(2008)
Biochim Biophys Acta
, vol.1777
, pp. 853-859
-
-
Koopman, W.J.1
Verkaart, S.2
Van Emst-de Vries, S.E.3
-
44
-
-
41449089840
-
Mice with Mitochondrial Complex I Deficiency Develop a Fatal Encephalomyopathy
-
DOI 10.1016/j.cmet.2008.02.004, PII S1550413108000387
-
Kruse SE, Watt WC, Marcinek DJ et al (2008) Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. Cell Metab 7:312-320 (Pubitemid 351455216)
-
(2008)
Cell Metabolism
, vol.7
, Issue.4
, pp. 312-320
-
-
Kruse, S.E.1
Watt, W.C.2
Marcinek, D.J.3
Kapur, R.P.4
Schenkman, K.A.5
Palmiter, R.D.6
-
45
-
-
0035202150
-
Animal models for respiratory chain disease
-
Larsson NG, Rustin P (2001) Animal models for respiratory chain disease. Trends Mol Med 7:578-581
-
(2001)
Trends Mol Med
, vol.7
, pp. 578-581
-
-
Larsson, N.G.1
Rustin, P.2
-
46
-
-
33750011601
-
Mitochondrial glutathione transport: Physiological, pathological and toxicological implications
-
Lash LH (2006) Mitochondrial glutathione transport: physiological, pathological and toxicological implications. Chem Biol Interact 163:54-67
-
(2006)
Chem Biol Interact
, vol.163
, pp. 54-67
-
-
Lash, L.H.1
-
47
-
-
34250164233
-
Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I
-
DOI 10.1128/MCB.00074-07
-
Lazarou M, McKenzie M, Ohtake A (2007) Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I. Mol Cell Biol 27:4228-4237 (Pubitemid 46906548)
-
(2007)
Molecular and Cellular Biology
, vol.27
, Issue.12
, pp. 4228-4237
-
-
Lazarou, M.1
McKenzie, M.2
Ohtake, A.3
Thorburn, D.R.4
Ryan, M.T.5
-
48
-
-
56649115977
-
Assembly of mitochondrial complex I and defects in disease
-
Lazarou M, Thorburn DR, Ryan MT et al (2009) Assembly of mitochondrial complex I and defects in disease. Biochim Biophys Acta 1793:78-88
-
(2009)
Biochim Biophys Acta
, vol.1793
, pp. 78-88
-
-
Lazarou, M.1
Thorburn, D.R.2
Ryan, M.T.3
-
49
-
-
67349159760
-
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement
-
Leshinsky-Silver E, Lebre AS, Minai L (2009) NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. Mol Genet Metab 3:185-189
-
(2009)
Mol Genet Metab
, vol.3
, pp. 185-189
-
-
Leshinsky-Silver, E.1
Lebre, A.S.2
Minai, L.3
-
50
-
-
0000376151
-
Subacute necrotizing encephalomyelopathy in an infant
-
Leigh D (1951) Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 14:216-221
-
(1951)
J Neurol Neurosurg Psychiatry
, vol.14
, pp. 216-221
-
-
Leigh, D.1
-
51
-
-
0034700807
-
Mitochondrial respiratory chain disorders I: Mitochondrial DNA defects
-
DOI 10.1016/S0140-6736(99)05225-3
-
Leonard JV, Schapira AH (2000) Mitochondrial respiratory chain disorders I: mitochondrial DNA defects. Lancet 355:299-304 (Pubitemid 30068529)
-
(2000)
Lancet
, vol.355
, Issue.9200
, pp. 299-304
-
-
Leonard, J.V.1
Schapira, A.H.V.2
-
52
-
-
0033967568
-
Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects
-
DOI 10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P
-
Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ et al (2000) Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat 15:123-134 (Pubitemid 30078403)
-
(2000)
Human Mutation
, vol.15
, Issue.2
, pp. 123-134
-
-
Loeffen, J.L.C.M.1
Smeitink, J.A.M.2
Trijbels, J.M.F.3
Janssen, A.J.M.4
Triepels, R.H.5
Sengers, R.C.A.6
Van Den, H.L.P.7
-
53
-
-
0035503501
-
Lifespan extension and rescue of spongiform encephalopathy in superoxide dismutase 2 nullizygous mice treated with superoxide dismutase-catalase mimetics
-
Melov S, Doctrow SR, Schneider JA et al (2001) Lifespan extension and rescue of spongiform encephalopathy in superoxide dismutase 2 nullizygous mice treated with superoxide dismutase-catalase mimetics. J Neurosci 21:8348-8353 (Pubitemid 33051432)
-
(2001)
Journal of Neuroscience
, vol.21
, Issue.21
, pp. 8348-8353
-
-
Melov, S.1
Doctrow, S.R.2
Schneider, J.A.3
Haberson, J.4
Patel, M.5
Coskun, P.E.6
Huffman, K.7
Wallace, D.C.8
Malfroy, B.9
-
54
-
-
40849135481
-
The Sirtuin family: Therapeutic targets to treat diseases of aging
-
Milne JC, Denu JM (2008) The Sirtuin family: therapeutic targets to treat diseases of aging. Curr Opin Chem Biol 12:11-17
-
(2008)
Curr Opin Chem Biol
, vol.12
, pp. 11-17
-
-
Milne, J.C.1
Denu, J.M.2
-
55
-
-
0018405404
-
A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity
-
DOI 10.1016/0022-510X(79)90071-6
-
Morgan-Hughes JA, Darveniza P, Landon DN et al (1979) A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity. J Neurol Sci 43:27-46 (Pubitemid 9220250)
-
(1979)
Journal of the Neurological Sciences
, vol.43
, Issue.1
, pp. 27-46
-
-
Morgan-Hughes, J.A.1
Darveniza, P.2
Landon, D.N.3
-
56
-
-
57749100375
-
Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts
-
Mortiboys H, Thomas KJ, Koopman WJ et al (2009) Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts. Ann Neurology 64:555-565
-
(2009)
Ann Neurology
, vol.64
, pp. 555-565
-
-
Mortiboys, H.1
Thomas, K.J.2
Koopman, W.J.3
-
57
-
-
46349110018
-
Targeting lipophilic cations to mitochondria
-
Murphy MP (2008) Targeting lipophilic cations to mitochondria. Biochim Biophys Acta 1777:1028-1031
-
(2008)
Biochim Biophys Acta
, vol.1777
, pp. 1028-1031
-
-
Murphy, M.P.1
-
58
-
-
58249093939
-
How mitochondria produce reactive oxygen species
-
Murphy MP (2009) How mitochondria produce reactive oxygen species. Biochem J 417:1-13
-
(2009)
Biochem J
, vol.417
, pp. 1-13
-
-
Murphy, M.P.1
-
59
-
-
33847071146
-
Targeting antioxidants to mitochondria by conjugation to lipophilic cations
-
Murphy MP, Smith RA (2007) Targeting antioxidants to mitochondria by conjugation to lipophilic cations. Annu Rev Pharmacol Toxicol 56:629-656
-
(2007)
Annu Rev Pharmacol Toxicol
, vol.56
, pp. 629-656
-
-
Murphy, M.P.1
Smith, R.A.2
-
60
-
-
23744438352
-
Mitochondrial calcium signaling and energy metabolism
-
Nguyen MH, Jafri MS (2005) Mitochondrial calcium signaling and energy metabolism. Ann N Y Acad Sci 1047:127-137
-
(2005)
Ann N Y Acad Sci
, vol.1047
, pp. 127-137
-
-
Nguyen, M.H.1
Jafri, M.S.2
-
61
-
-
24644462789
-
Mitochondria and calcium signaling
-
Nicholls DG (2005) Mitochondria and calcium signaling. Cell Calcium 38:311-317
-
(2005)
Cell Calcium
, vol.38
, pp. 311-317
-
-
Nicholls, D.G.1
-
62
-
-
0034053925
-
Yeast mitochondrial carriers: Bacterial expression, biochemical identification and metabolic significance
-
DOI 10.1023/A:1005564429242
-
Palmieri L, Runswick MJ, Fiermonte G (2000) Yeast mitochondrial carriers: bacterial expression, biochemical identification and metabolic significance. J Bioenerg Biomembr 32:67-77 (Pubitemid 30241259)
-
(2000)
Journal of Bioenergetics and Biomembranes
, vol.32
, Issue.1
, pp. 67-77
-
-
Palmieri, L.1
Runswick, M.J.2
Fiermonte, G.3
Walker, J.E.4
Palmieri, F.5
-
63
-
-
0035793474
-
Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome
-
DOI 10.1016/S0014-5793(00)02334-6, PII S0014579300023346
-
Papa S, Scacco S, Sardanelli AM (2001) Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome. FEBS Lett 489:259-262 (Pubitemid 32126420)
-
(2001)
FEBS Letters
, vol.489
, Issue.2-3
, pp. 259-262
-
-
Papa, S.1
Scacco, S.2
Sardanelli, A.M.3
Vergari, R.4
Papa, F.5
Budde, S.6
Van Den, H.L.7
Smeitink, J.8
-
64
-
-
0037029133
-
Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: The NDUFS4 gene
-
DOI 10.1016/S0378-1119(01)00810-1, PII S0378111901008101
-
Petruzzella V, Papa S (2002) Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene. Gene 286:149-154 (Pubitemid 34273872)
-
(2002)
Gene
, vol.286
, Issue.1
, pp. 149-154
-
-
Petruzzella, V.1
Papa, S.2
-
65
-
-
21244452397
-
Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants
-
DOI 10.1016/j.febslet.2005.05.035, PII S0014579305006393
-
Petruzzella V, Panelli D, Torraco A, Petruzzella V, Panelli D, Torraco A (2005) Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants. FEBS Lett 579:3770-3776 (Pubitemid 40897723)
-
(2005)
FEBS Letters
, vol.579
, Issue.17
, pp. 3770-3776
-
-
Petruzzella, V.1
Panelli, D.2
Torraco, A.3
Stella, A.4
Papa, S.5
-
66
-
-
35548999739
-
Targeted Deletion of AIF Decreases Mitochondrial Oxidative Phosphorylation and Protects from Obesity and Diabetes
-
DOI 10.1016/j.cell.2007.08.047, PII S009286740701197X
-
Pospisilik JA, Knauf C, Joza N et al (2007) Targeted deletion of AIF decreases mitochondrial oxidative phosphorylation and protects from obesity and diabetes. Cell 131:476-491 (Pubitemid 350017761)
-
(2007)
Cell
, vol.131
, Issue.3
, pp. 476-491
-
-
Pospisilik, J.A.1
Knauf, C.2
Joza, N.3
Benit, P.4
Orthofer, M.5
Cani, P.D.6
Ebersberger, I.7
Nakashima, T.8
Sarao, R.9
Neely, G.10
Esterbauer, H.11
Kozlov, A.12
Kahn, C.R.13
Kroemer, G.14
Rustin, P.15
Burcelin, R.16
Penninger, J.M.17
-
68
-
-
33846961451
-
Use of mitochondrial antioxidant defenses for rescue of cells with a Leber hereditary optic neuropathy-causing mutation
-
Qi X, Sun L, Hauswirth WW et al (2007) Use of mitochondrial antioxidant defenses for rescue of cells with a Leber hereditary optic neuropathy-causing mutation. Arch Ophthalmol 125:268-272
-
(2007)
Arch Ophthalmol
, vol.125
, pp. 268-272
-
-
Qi, X.1
Sun, L.2
Hauswirth, W.W.3
-
69
-
-
0029985716
-
Leigh syndrome: Clinical features and biochemical and DNA abnormalities
-
DOI 10.1002/ana.410390311
-
Rahman S, Blok RB, Dahl HH et al (1996) Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 39:343-351 (Pubitemid 26100758)
-
(1996)
Annals of Neurology
, vol.39
, Issue.3
, pp. 343-351
-
-
Rahman, S.1
Blok, R.B.2
Dahl, H.-H.M.3
Danks, D.M.4
Kirby, D.M.5
Chow, C.W.6
Christodoulou, J.7
Thorburn, D.R.8
-
70
-
-
66749128531
-
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease
-
Saada A, Vogel RO, Hoefs SJ (2009) Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. Am J Hum Genet 6:718-727
-
(2009)
Am J Hum Genet
, vol.6
, pp. 718-727
-
-
Saada, A.1
Vogel, R.O.2
Hoefs, S.J.3
-
71
-
-
0031577593
-
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS
-
DOI 10.1006/bbrc.1997.7167
-
Santorelli FM, Tanji K, Kulikova R et al (1997) Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem Biophys Res Commun 238:326-328 (Pubitemid 27464381)
-
(1997)
Biochemical and Biophysical Research Communications
, vol.238
, Issue.2
, pp. 326-328
-
-
Santorelli, F.M.1
Tanji, K.2
Kulikova, R.3
Shanske, S.4
Vilarinho, L.5
Hays, A.P.6
DiMauro, S.7
-
72
-
-
0034625326
-
CAMP-dependent phosphorylation of the nuclear encoded 18-kDa (IP) subunit of respiratory complex I and activation of the complex in serum- Starved mouse fibroblast cultures
-
DOI 10.1074/jbc.M001174200
-
Scacco S, Vergari R, Scarpulla RC et al (2000) cAMP-dependent phosphorylation of the nuclear encoded 18-kDa (IP) subunit of respiratory complex I and activation of the complex in serum-starved mouse fibroblast cultures. J Biol Chem 275:17578-17582 (Pubitemid 30430802)
-
(2000)
Journal of Biological Chemistry
, vol.275
, Issue.23
, pp. 17578-17582
-
-
Scacco, S.1
Vergari, R.2
Scarpulla, R.C.3
Technikova-Dobrova, Z.4
Sardanelli, A.5
Lambo, R.6
Lorusso, V.7
Papa, S.8
-
74
-
-
0037314215
-
Neuronal degeneration and mitochondrial dysfunction
-
DOI 10.1172/JCI200317741
-
Schon EA, Manfredi G (2003) Neuronal degeneration and mitochondrial dysfunction. J Clin Invest 111:303-312 (Pubitemid 36182203)
-
(2003)
Journal of Clinical Investigation
, vol.111
, Issue.3
, pp. 303-312
-
-
Schon, E.A.1
Manfredi, G.2
-
75
-
-
0035349906
-
The genetics and pathology of oxidative phosphorylation
-
DOI 10.1038/35072063
-
Smeitink J, van den Heuvel L, DiMauro S (2001) The genetics and pathology of oxidative phosphorylation. Nat Rev Genet 2:342-352 (Pubitemid 33673072)
-
(2001)
Nature Reviews Genetics
, vol.2
, Issue.5
, pp. 342-352
-
-
Smeitink, J.1
Van Den, H.L.2
DiMauro, S.3
-
76
-
-
33645052713
-
Mitochondrial medicine: A metabolic perspective on the pathology of oxidative phosphorylation disorders
-
Smeitink JA, Zeviani M, Turnbull DM et al (2006) Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. Cell Metab 3:9-13
-
(2006)
Cell Metab
, vol.3
, pp. 9-13
-
-
Smeitink, J.A.1
Zeviani, M.2
Turnbull, D.M.3
-
77
-
-
0033521741
-
Molecular characterization of mitochondrial apoptosis-inducing factor
-
Susin SA, Lorenzo HK, Zamzami N et al (1999) Molecular characterization of mitochondrial apoptosis-inducing factor. Nature 397(6718):441-446
-
(1999)
Nature
, vol.397
, Issue.6718
, pp. 441-446
-
-
Susin, S.A.1
Lorenzo, H.K.2
Zamzami, N.3
-
78
-
-
16844366665
-
A novel potassium channel in lymphocyte mitochondria
-
Szabò I, Bock J, Jekle A, Soddemann M (2005) A novel potassium channel in lymphocyte mitochondria. J Biol Chem 280:12790-12798
-
(2005)
J Biol Chem
, vol.280
, pp. 12790-12798
-
-
Szabò, I.1
Bock, J.2
Jekle, A.3
Soddemann, M.4
-
79
-
-
33748201552
-
Mitochondria-targeted peptide antioxidants: Novel neuroprotective agents
-
Szeto HH (2006) Mitochondria-targeted peptide antioxidants: novel neuroprotective agents. AAPS J 8:E521-E531
-
(2006)
AAPS J
, vol.8
-
-
Szeto, H.H.1
-
80
-
-
17744386166
-
2+ release and catecholamine-induced arrhythmias in mitochondrial cardiomyopathy
-
DOI 10.1093/hmg/ddi119
-
Tavi P, Hansson A, Zhang SJ et al (2005) Abnormal Ca(2+) release and catecholamine-induced arrhythmias in mitochondrial cardiomyopathy. Hum Mol Genet 14:1069-1076 (Pubitemid 40575882)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.8
, pp. 1069-1076
-
-
Tavi, P.1
Hansson, A.2
Zhang, S.-J.3
Larsson, N.-G.4
Westerblad, H.5
-
81
-
-
1642382090
-
Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency
-
DOI 10.1093/hmg/ddh071
-
Ugalde C, Janssen RJ, van den Heuvel LP et al (2004) Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency. Hum Mol Genet 13:659-667 (Pubitemid 38379855)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.6
, pp. 659-667
-
-
Ugalde, C.1
Janssen, R.J.R.J.2
Van Den, H.L.P.3
Smeitink, J.A.M.4
Nijtmans, L.G.J.5
-
82
-
-
10644244369
-
AIF deficiency compromises oxidative phosphorylation
-
DOI 10.1038/sj.emboj.7600461
-
Vahsen N, Cande C, Briere JJ et al (2004) AIF deficiency compromises oxidative phosphorylation. EMBO J 23:4679-4689 (Pubitemid 39657867)
-
(2004)
EMBO Journal
, vol.23
, Issue.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
Feraud, O.11
Debili, N.12
Wissing, S.13
Engelhardt, S.14
Madeo, F.15
Piacentini, M.16
Penninger, J.M.17
Schagger, H.18
Rustin, P.19
Kroemer, G.20
more..
-
83
-
-
71949124041
-
Calcium and ATP handling in human NADH:ubiquinone oxidoreductase deficiency
-
ePub
-
Valsecchi F, Esseling JJ, Koopman WJ (2009) Calcium and ATP handling in human NADH:ubiquinone oxidoreductase deficiency. Biochim Biophys Acta 10 ePub
-
(2009)
Biochim Biophys Acta
, vol.10
-
-
Valsecchi, F.1
Esseling, J.J.2
Koopman, W.J.3
-
84
-
-
34548174026
-
Mitochondrial and cytosolic thiol redox state are not detectably altered in isolated human NADH:ubiquinone oxidoreductase deficiency
-
DOI 10.1016/j.bbadis.2007.05.004, PII S092544390700110X
-
Verkaart S, Koopman WJ, Cheek J et al (2007a) Mitochondrial and cytosolic thiol redox state are not detectably altered in isolated human NADH:ubiquinone oxidoreductase deficiency. Biochim Biophys Acta 1772:1041-1051 (Pubitemid 47314228)
-
(2007)
Biochimica et Biophysica Acta - Molecular Basis of Disease
, vol.1772
, Issue.9
, pp. 1041-1051
-
-
Verkaart, S.1
Koopman, W.J.H.2
Cheek, J.3
Van Emst-de, V.S.E.4
Van Den, H.L.W.P.J.5
Smeitink, J.A.M.6
Willems, P.H.G.M.7
-
85
-
-
33847031295
-
Superoxide production is inversely related to complex I activity in inherited complex I deficiency
-
DOI 10.1016/j.bbadis.2006.12.009, PII S0925443906002924
-
Verkaart S, Koopman WJ, van Emst-de Vries SE (2007b) Superoxide production is inversely related to complex I activity in inherited complex I deficiency. Biochim Biophys Acta 1772:373-381 (Pubitemid 46275438)
-
(2007)
Biochimica et Biophysica Acta - Molecular Basis of Disease
, vol.1772
, Issue.3
, pp. 373-381
-
-
Verkaart, S.1
Koopman, W.J.H.2
Van Emst-de, V.S.E.3
Nijtmans, L.G.J.4
Van Den, H.L.W.P.J.5
Smeitink, J.A.M.6
Willems, P.H.G.M.7
-
86
-
-
4644326685
-
2+ handling in human complex I deficiency
-
DOI 10.1074/jbc.M408068200
-
Visch HJ, Rutter GA, Koopman WJ et al (2004) Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency. J Biol Chem 279:40328-40336 (Pubitemid 39287618)
-
(2004)
Journal of Biological Chemistry
, vol.279
, Issue.39
, pp. 40328-40336
-
-
Visch, H.-J.1
Rutter, G.A.2
Koopman, W.J.H.3
Koenderink, J.B.4
Verkaart, S.5
De Groot, T.6
Varadi, A.7
Mitchell, K.J.8
Van Den, H.L.P.9
Smeitink, J.A.H.10
Willems, P.H.G.M.11
-
87
-
-
29644439802
-
Decreased agonist-stimulated mitochondrial ATP production caused by a pathological reduction in endoplasmic reticulum calcium content in human complex I deficiency
-
DOI 10.1016/j.bbadis.2005.09.001, PII S0925443905001298
-
Visch HJ, Koopman WJ, Leusink A et al (2006a) Decreased agonist-stimulated mitochondrial ATP production caused by a pathological reduction in endoplasmic reticulum calcium content in human complex I deficiency. Biochim Biophys Acta 1762:115-123 (Pubitemid 43021094)
-
(2006)
Biochimica et Biophysica Acta - Molecular Basis of Disease
, vol.1762
, Issue.1
, pp. 115-123
-
-
Visch, H.-J.1
Koopman, W.J.H.2
Leusink, A.3
Van Emst-De, V.S.E.4
Van Den, H.L.W.P.J.5
Willems, P.H.G.M.6
Smeitink, J.A.M.7
-
88
-
-
33746622500
-
2+ removal: Aberrations in human complex I deficiency
-
DOI 10.1152/ajpcell.00561.2005
-
Visch HJ, Koopman WJ, Zeegers D (2006b) Ca2+-mobilizing agonists increase mitochondrial ATP production to accelerate cytosolic Ca2+ removal: aberrations in human complex I deficiency. Am J Physiol Cell Physiol 291:C308-C316 (Pubitemid 44148154)
-
(2006)
American Journal of Physiology - Cell Physiology
, vol.291
, Issue.2
-
-
Visch, H.-J.1
Koopman, W.J.H.2
Zeegers, D.3
Van Emst-de, V.S.E.4
Van Kuppeveld, F.J.M.5
Van Den, H.L.W.P.J.6
Smeitink, J.A.M.7
Willems, P.H.G.M.8
-
89
-
-
1842557955
-
Complex I assembly: A puzzling problem
-
DOI 10.1097/00019052-200404000-00016
-
Vogel R, Nijtmans L, Ugalde C et al (2004) Complex I assembly: a puzzling problem. Curr Opin Neurol 17:179-186 (Pubitemid 38446461)
-
(2004)
Current Opinion in Neurology
, vol.17
, Issue.2
, pp. 179-186
-
-
Vogel, R.1
Nijtmans, L.2
Ugalde, C.3
Van Den, H.L.4
Smeitink, J.5
-
90
-
-
44749093824
-
Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency
-
Willems PH, Valsecchi F, Distelmaier F et al (2008) Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency. Cell Calcium 44:123-133
-
(2008)
Cell Calcium
, vol.44
, pp. 123-133
-
-
Willems, P.H.1
Valsecchi, F.2
Distelmaier, F.3
-
91
-
-
79955699043
-
Motor systems and regulatory systems
-
Whishaw IQ, Kolb B (eds) Oxford University Press
-
Whishaw IQ, Kolb B (1983) Motor systems and regulatory systems In: Whishaw IQ, Kolb B (eds) The behavior of the laboratory rat. Oxford University Press, pp 121-245
-
(1983)
The Behavior of the Laboratory Rat
, pp. 121-245
-
-
Whishaw, I.Q.1
Kolb, B.2
-
92
-
-
0027067905
-
Human Mn-superoxide dismutase in pulmonary epithelial cells of transgenic mice confers protection from oxygen injury
-
Wispe JR, Warner BB, Clark JC et al (1992) Human Mn-superoxide dismutase in pulmonary epithelial cells of transgenic mice confers protection from oxygen injury. J Biol Chem 25267: 23937-23941 (Pubitemid 23088207)
-
(1992)
Journal of Biological Chemistry
, vol.267
, Issue.33
, pp. 23937-23941
-
-
Wispe, J.R.1
Warner, B.B.2
Clark, J.C.3
Dey, C.R.4
Neuman, J.5
Glasser, S.W.6
Crapo, J.D.7
Chang, L.-Y.8
Whitsett, J.A.9
-
94
-
-
66449105882
-
Architecture of complex I and its implications for electron transfer and proton pumping
-
Zickermann V, Kerscher S, Zwicker K (2009) Architecture of complex I and its implications for electron transfer and proton pumping. Biochim Biophys Acta 6:574-583
-
(2009)
Biochim Biophys Acta
, vol.6
, pp. 574-583
-
-
Zickermann, V.1
Kerscher, S.2
Zwicker, K.3
|