-
1
-
-
78651126508
-
A case of severe hyper metabolism of non-thyroid origin with a defect in the maintenance of mitochondrial respiratory control: A correlated clinical, biochemical, and morphological study
-
R. Luft, D. Ikkos, G. Palmieri, L. Ernster, and B. Afzelius A case of severe hyper metabolism of non-thyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study J Clin Investig 41 1962 1776 1804
-
(1962)
J Clin Investig
, vol.41
, pp. 1776-1804
-
-
Luft, R.1
Ikkos, D.2
Palmieri, G.3
Ernster, L.4
Afzelius, B.5
-
2
-
-
77956255442
-
A history of mitochondrial diseases
-
S.J. DiMauro A history of mitochondrial diseases J Inherit Metab Dis 34 2011 261 276
-
(2011)
J Inherit Metab Dis
, vol.34
, pp. 261-276
-
-
DiMauro, S.J.1
-
4
-
-
0042266280
-
Minimum birth prevalence of mitochondrial respiratory chain disorders in children
-
D. Skladal, J. Halliday, and D.R. Thorburn Minimum birth prevalence of mitochondrial respiratory chain disorders in children Brain 126 2003 1905 1912
-
(2003)
Brain
, vol.126
, pp. 1905-1912
-
-
Skladal, D.1
Halliday, J.2
Thorburn, D.R.3
-
5
-
-
78651128209
-
Intramitochondrial fibers with DNA characteristics. I. Fixation and electron staining reactions
-
M.M. Nass, and S. Nass Intramitochondrial fibers with DNA characteristics. I. Fixation and electron staining reactions J Cell Biol 19 1963 593 611
-
(1963)
J Cell Biol
, vol.19
, pp. 593-611
-
-
Nass, M.M.1
Nass, S.2
-
6
-
-
66249136027
-
Mapping gene associations in human mitochondria using clinical disease phenotypes
-
C. Scharfe, H. Lu, J. Neuenburg, E. Allen, G. Li, T. Klopstock, and et al. Mapping gene associations in human mitochondria using clinical disease phenotypes PLoS Comput Biol 5 4 2009 e1000374
-
(2009)
PLoS Comput Biol
, vol.5
, Issue.4
-
-
Scharfe, C.1
Lu, H.2
Neuenburg, J.3
Allen, E.4
Li, G.5
Klopstock, T.6
-
7
-
-
23644433329
-
The mitochondrial genome in human adaptive radiation and disease: On the road to therapeutics and performance enhancement
-
D.C. Wallace The mitochondrial genome in human adaptive radiation and disease: on the road to therapeutics and performance enhancement Gene 354 2005 169 180
-
(2005)
Gene
, vol.354
, pp. 169-180
-
-
Wallace, D.C.1
-
8
-
-
0037073677
-
NAD(P)H oxidase-derived hydrogen peroxide mediates endothelial nitric oxide production in response to angiotensin II
-
H. Cai, Z. Li, S. Dikalov, S.M. Holland, J. Hwang, H. Jo, and et al. NAD(P)H oxidase-derived hydrogen peroxide mediates endothelial nitric oxide production in response to angiotensin II J Biol Chem 277 2002 48311 48317
-
(2002)
J Biol Chem
, vol.277
, pp. 48311-48317
-
-
Cai, H.1
Li, Z.2
Dikalov, S.3
Holland, S.M.4
Hwang, J.5
Jo, H.6
-
9
-
-
0028466383
-
Oxygen and the control of gene expression
-
H.L. Pahl, and P.A. Baeuerle Oxygen and the control of gene expression Bioessays 16 1994 497 502
-
(1994)
Bioessays
, vol.16
, pp. 497-502
-
-
Pahl, H.L.1
Baeuerle, P.A.2
-
10
-
-
1642305344
-
Ras induction of superoxide activates ERK-dependent angiogenic transcription factor HIF-1alpha and VEGF-A expression in shock wave-stimulated osteoblasts
-
F.S. Wang, C.J. Wang, Y.J. Chen, P.R. Chang, Y.T. Huang, Y.C. Sun, and et al. Ras induction of superoxide activates ERK-dependent angiogenic transcription factor HIF-1alpha and VEGF-A expression in shock wave-stimulated osteoblasts J Biol Chem 279 2004 10331 10337
-
(2004)
J Biol Chem
, vol.279
, pp. 10331-10337
-
-
Wang, F.S.1
Wang, C.J.2
Chen, Y.J.3
Chang, P.R.4
Huang, Y.T.5
Sun, Y.C.6
-
11
-
-
0037131391
-
Mitochondrial reactive oxygen species trigger calcium increases during hypoxia in pulmonary arterial myocytes
-
G.B. Waypa, J.D. Marks, M.M. Mack, C. Boriboun, P.T. Mungai, and P.T. Schumacker Mitochondrial reactive oxygen species trigger calcium increases during hypoxia in pulmonary arterial myocytes Circ Res 91 2002 719 726
-
(2002)
Circ Res
, vol.91
, pp. 719-726
-
-
Waypa, G.B.1
Marks, J.D.2
Mack, M.M.3
Boriboun, C.4
Mungai, P.T.5
Schumacker, P.T.6
-
12
-
-
84928978368
-
Energy metabolism disorders in rare and common diseases. Toward bioenergetic modulation therapy and the training of a new generation of European scientists
-
R. Rossignol Energy metabolism disorders in rare and common diseases. Toward bioenergetic modulation therapy and the training of a new generation of European scientists Int J Biochem Cell Biol 63 2015 2 9
-
(2015)
Int J Biochem Cell Biol
, vol.63
, pp. 2-9
-
-
Rossignol, R.1
-
13
-
-
84900542451
-
Metabolic features of the cell danger response
-
R.K. Naviaux Metabolic features of the cell danger response Mitochondrion 16 2014 7 17
-
(2014)
Mitochondrion
, vol.16
, pp. 7-17
-
-
Naviaux, R.K.1
-
14
-
-
0000238410
-
Diffuse progressive degeneration of gray matter of cerebrum
-
B.J. Alpers Diffuse progressive degeneration of gray matter of cerebrum Arch Neurol Psychiatry 25 1931 469 505
-
(1931)
Arch Neurol Psychiatry
, vol.25
, pp. 469-505
-
-
Alpers, B.J.1
-
15
-
-
2142705756
-
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
-
R.K. Naviaux, and K.V. Nguyen POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion Ann Neurol 55 2004 706 712
-
(2004)
Ann Neurol
, vol.55
, pp. 706-712
-
-
Naviaux, R.K.1
Nguyen, K.V.2
-
16
-
-
84857030799
-
Neurodegeneration as a consequence of failed mitochondrial maintenance
-
M. Karbowski, and A. Neutzner Neurodegeneration as a consequence of failed mitochondrial maintenance Acta Neuropathol 123 2012 157 171
-
(2012)
Acta Neuropathol
, vol.123
, pp. 157-171
-
-
Karbowski, M.1
Neutzner, A.2
-
17
-
-
77954169092
-
A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy
-
H. Ashrafian, L. Docherty, V. Leo, C. Towlson, M. Neilan, V. Steeples, and et al. A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy PLoS Genet 6 6 2010 e1001000
-
(2010)
PLoS Genet
, vol.6
, Issue.6
-
-
Ashrafian, H.1
Docherty, L.2
Leo, V.3
Towlson, C.4
Neilan, M.5
Steeples, V.6
-
18
-
-
1642377274
-
Impaired mitochondrial activity in the insulin-resistant offspring of patients with type 2 diabetes
-
K.F. Petersen, S. Dufour, D. Befroy, R. Garcia, and G.I. Shulman Impaired mitochondrial activity in the insulin-resistant offspring of patients with type 2 diabetes N Engl J Med 350 2004 664 671
-
(2004)
N Engl J Med
, vol.350
, pp. 664-671
-
-
Petersen, K.F.1
Dufour, S.2
Befroy, D.3
Garcia, R.4
Shulman, G.I.5
-
19
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
D.C. Wallace, G. Singh, M.T. Lott, J.A. Hodge, T.G. Schurr, A.M. Lezza, and et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy Science 242 1988 1427 1430
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
Hodge, J.A.4
Schurr, T.G.5
Lezza, A.M.6
-
20
-
-
33746466098
-
Mitochondrial mutations in cancer
-
M. Brandon, P. Baldi, and D.C. Wallace Mitochondrial mutations in cancer Oncogene 25 2006 4647 4662
-
(2006)
Oncogene
, vol.25
, pp. 4647-4662
-
-
Brandon, M.1
Baldi, P.2
Wallace, D.C.3
-
21
-
-
0038046118
-
Depletion of mitochondrial DNA in HIV-1-infected patients and its amelioration by antiretroviral therapy
-
T. Miura, M. Goto, N. Hosoya, T. Odawara, Y. Kitamura, T. Nakamura, and et al. Depletion of mitochondrial DNA in HIV-1-infected patients and its amelioration by antiretroviral therapy J Med Virol 70 2003 497 505
-
(2003)
J Med Virol
, vol.70
, pp. 497-505
-
-
Miura, T.1
Goto, M.2
Hosoya, N.3
Odawara, T.4
Kitamura, Y.5
Nakamura, T.6
-
22
-
-
84874591240
-
The role of mitochondria in aging
-
A. Bratic, and N.G. Larsson The role of mitochondria in aging J Clin Investig 123 3 2013 951 957
-
(2013)
J Clin Investig
, vol.123
, Issue.3
, pp. 951-957
-
-
Bratic, A.1
Larsson, N.G.2
-
23
-
-
84870348705
-
Air pollution and type 2 diabetes: Mechanistic insights
-
S. Rajagopalan, and R.D. Brook Air pollution and type 2 diabetes: mechanistic insights Diabetes 61 12 2012 3037 3045
-
(2012)
Diabetes
, vol.61
, Issue.12
, pp. 3037-3045
-
-
Rajagopalan, S.1
Brook, R.D.2
-
24
-
-
0142043300
-
Mitochondrial encephalopathy
-
N. Longo Mitochondrial encephalopathy Neurol Clin 21 4 2003 817 831
-
(2003)
Neurol Clin
, vol.21
, Issue.4
, pp. 817-831
-
-
Longo, N.1
-
25
-
-
0030011347
-
Non neutral mitochondrial DNA variation in humans and chimpanzees
-
M.W. Nachman, W.M. Brown, M. Stoneking, and C.F. Aquadro Non neutral mitochondrial DNA variation in humans and chimpanzees Genetics 142 3 1996 953 963
-
(1996)
Genetics
, vol.142
, Issue.3
, pp. 953-963
-
-
Nachman, M.W.1
Brown, W.M.2
Stoneking, M.3
Aquadro, C.F.4
-
26
-
-
17744393686
-
Mitochondrial DNA mutations in human disease
-
R.W. Taylor, and D.M. Turnbull Mitochondrial DNA mutations in human disease Nat Rev Genet 6 5 2005 389 402
-
(2005)
Nat Rev Genet
, vol.6
, Issue.5
, pp. 389-402
-
-
Taylor, R.W.1
Turnbull, D.M.2
-
27
-
-
0242417495
-
Assessment of precision and concordance of quantitative mitochondrial DNA assays: A collaborative international quality assurance study
-
E.L. Hammond, D. Sayer, D. Nolan, U.A. Walker, A. de Ronde, J.S. Montaner, and et al. Assessment of precision and concordance of quantitative mitochondrial DNA assays: a collaborative international quality assurance study J Clin Virol 27 1 2003 97 110
-
(2003)
J Clin Virol
, vol.27
, Issue.1
, pp. 97-110
-
-
Hammond, E.L.1
Sayer, D.2
Nolan, D.3
Walker, U.A.4
De Ronde, A.5
Montaner, J.S.6
-
28
-
-
10644246729
-
Molecular analysis for mitochondrial DNA disorders
-
S. Shanske, and L.J. Wong Molecular analysis for mitochondrial DNA disorders Mitochondrion 4 5-6 2004 403 415
-
(2004)
Mitochondrion
, vol.4
, Issue.5-6
, pp. 403-415
-
-
Shanske, S.1
Wong, L.J.2
-
29
-
-
0026712954
-
Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA
-
A. Suomalainen, E. Ciafaloni, Y. Koga, L. Peltonen, S. DiMauro, and E.A. Schon Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA J Neurol Sci 11 1992 222 226
-
(1992)
J Neurol Sci
, vol.11
, pp. 222-226
-
-
Suomalainen, A.1
Ciafaloni, E.2
Koga, Y.3
Peltonen, L.4
DiMauro, S.5
Schon, E.A.6
-
30
-
-
0032880563
-
Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis
-
T.J. Chen, R.G. Boles, and L.J. Wong Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis Clin Chem 45 1999 1162 1167
-
(1999)
Clin Chem
, vol.45
, pp. 1162-1167
-
-
Chen, T.J.1
Boles, R.G.2
Wong, L.J.3
-
31
-
-
0030873290
-
Comprehensive, rapid and sensitive detection of sequence variants of human mitochondrial tRNA genes
-
Y. Michikawa, G. Ho fhaus, L.S. Lerman, and G. Attardi Comprehensive, rapid and sensitive detection of sequence variants of human mitochondrial tRNA genes Nucleic Acids Res 25 1997 2455 2463
-
(1997)
Nucleic Acids Res
, vol.25
, pp. 2455-2463
-
-
Michikawa, Y.1
Ho Fhaus, G.2
Lerman, L.S.3
Attardi, G.4
-
32
-
-
0025269309
-
Detecting base pair substitutions in DNA fragments by temperature-gradient gel electrophoresis
-
R.M. Wartell, S.H. Hosseini, and C.P. Moran Detecting base pair substitutions in DNA fragments by temperature-gradient gel electrophoresis Nucleic Acids Res 18 1990 2699 2705
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 2699-2705
-
-
Wartell, R.M.1
Hosseini, S.H.2
Moran, C.P.3
-
33
-
-
84863012272
-
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
-
S.E. Calvo, A.G. Compton, S.G. Hershman, S.C. Lim, D.S. Lieber, E.J. Tucker, and et al. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing Sci Transl Med 4 118 2012
-
(2012)
Sci Transl Med
, vol.4
, Issue.118
-
-
Calvo, S.E.1
Compton, A.G.2
Hershman, S.G.3
Lim, S.C.4
Lieber, D.S.5
Tucker, E.J.6
-
35
-
-
0034921209
-
Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease
-
P. Briones, M.A. Vilaseca, M.T. Garcia-Silva, M. Pineda, J. Colomer, I. Ferrer, and et al. Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease Eur J Paediatr Neurol 5 3 2001 127 131
-
(2001)
Eur J Paediatr Neurol
, vol.5
, Issue.3
, pp. 127-131
-
-
Briones, P.1
Vilaseca, M.A.2
Garcia-Silva, M.T.3
Pineda, M.4
Colomer, J.5
Ferrer, I.6
-
36
-
-
84867487186
-
Fidelity of capture-enrichment for mtDNA genome sequencing: Influence of NUMTs
-
M. Li, R. Schroeder, A. Ko, and M. Stoneking Fidelity of capture-enrichment for mtDNA genome sequencing: influence of NUMTs Nucleic Acids Res 40 18 2012 e137
-
(2012)
Nucleic Acids Res
, vol.40
, Issue.18
, pp. e137
-
-
Li, M.1
Schroeder, R.2
Ko, A.3
Stoneking, M.4
-
37
-
-
1042299965
-
Mitochondrial DNA-like sequences in the nucleus (NUMTs): Insights into our African origins and the mechanism of foreign DNA integration
-
D. Mishmar, E. Ruiz-Pesini, M. Brandon, and D.C. Wallace Mitochondrial DNA-like sequences in the nucleus (NUMTs): insights into our African origins and the mechanism of foreign DNA integration Hum Mutat 23 2004 125 133
-
(2004)
Hum Mutat
, vol.23
, pp. 125-133
-
-
Mishmar, D.1
Ruiz-Pesini, E.2
Brandon, M.3
Wallace, D.C.4
-
38
-
-
30344440795
-
Molecular research technologies in mitochondrial diseases: The microarray approach
-
M. Crimi, S.F. O'Hearn, D.C. Wallace, and G.P. Comi Molecular research technologies in mitochondrial diseases: the microarray approach IUBMB Life 57 2005 811 818
-
(2005)
IUBMB Life
, vol.57
, pp. 811-818
-
-
Crimi, M.1
O'Hearn, S.F.2
Wallace, D.C.3
Comi, G.P.4
-
40
-
-
77955562856
-
Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes
-
M. Li, A. Schonberg, M. Schaefer, R. Schroeder, I. Nasidze, and M. Stoneking Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes Am J Hum Genet 87 2010 237 249
-
(2010)
Am J Hum Genet
, vol.87
, pp. 237-249
-
-
Li, M.1
Schonberg, A.2
Schaefer, M.3
Schroeder, R.4
Nasidze, I.5
Stoneking, M.6
-
41
-
-
79953203261
-
Analysis of mitochondrial DNA point mutation heteroplasmy by ARMS quantitative PCR
-
Chapter 19
-
J. Wang, V. Venegas, F. Li, and L.J. Wong Analysis of mitochondrial DNA point mutation heteroplasmy by ARMS quantitative PCR Curr Protoc Hum Genet 2011 [Chapter 19]
-
(2011)
Curr Protoc Hum Genet
-
-
Wang, J.1
Venegas, V.2
Li, F.3
Wong, L.J.4
-
42
-
-
77956255221
-
Molecular genetics of mitochondrial disorders
-
L.J. Wong Molecular genetics of mitochondrial disorders Dev Disabil Res Rev 16 2010 154 162
-
(2010)
Dev Disabil Res Rev
, vol.16
, pp. 154-162
-
-
Wong, L.J.1
-
43
-
-
84905116272
-
The Bioenergetic Health Index: A new concept in mitochondrial translational research
-
B.K. Chacko, P.A. Kramer, S. Ravi, G.A. Benavides, T. Mitchell, B.P. Dranka, and et al. The Bioenergetic Health Index: a new concept in mitochondrial translational research Clin Sci 127 2014 367 373
-
(2014)
Clin Sci
, vol.127
, pp. 367-373
-
-
Chacko, B.K.1
Kramer, P.A.2
Ravi, S.3
Benavides, G.A.4
Mitchell, T.5
Dranka, B.P.6
-
44
-
-
84860251058
-
Platelet mitochondrial dysfunction is evident in type 2 diabetes in association with modifications of mitochondrial anti-oxidant stress proteins. Experimental and clinical endocrinology
-
C. Avila, R.J. Huang, M.V. Stevens, A.M. Aponte, D. Tripodi, K.Y. Kim, and et al. Platelet mitochondrial dysfunction is evident in type 2 diabetes in association with modifications of mitochondrial anti-oxidant stress proteins. Experimental and clinical endocrinology Diabetes 120 4 2012 248 251
-
(2012)
Diabetes
, vol.120
, Issue.4
, pp. 248-251
-
-
Avila, C.1
Huang, R.J.2
Stevens, M.V.3
Aponte, A.M.4
Tripodi, D.5
Kim, K.Y.6
-
45
-
-
43649092320
-
Effects of ageing and Alzheimer's disease on mitochondrial function of human platelets
-
C. Shi, K. Guo, D.T. Yew, Z. Yao, E.L. Forster, H. Wang, and et al. Effects of ageing and Alzheimer's disease on mitochondrial function of human platelets Exp Gerontol 43 2008 589 594
-
(2008)
Exp Gerontol
, vol.43
, pp. 589-594
-
-
Shi, C.1
Guo, K.2
Yew, D.T.3
Yao, Z.4
Forster, E.L.5
Wang, H.6
-
46
-
-
79955476448
-
Bioenergetic failure of human peripheral blood monocytes in patients with septic shock is mediated by reduced F1Fo adenosine-5′-triphosphate synthase activity
-
A.M. Japiassu, A.P. Santiago, J.C. d'Avila, L.F. Garcia-Souza, A. Galina, H.C. Castro Faria-Neto, and et al. Bioenergetic failure of human peripheral blood monocytes in patients with septic shock is mediated by reduced F1Fo adenosine-5′-triphosphate synthase activity Crit Care Med 39 5 2011 1056 1063
-
(2011)
Crit Care Med
, vol.39
, Issue.5
, pp. 1056-1063
-
-
Japiassu, A.M.1
Santiago, A.P.2
D'Avila, J.C.3
Garcia-Souza, L.F.4
Galina, A.5
Castro Faria-Neto, H.C.6
-
47
-
-
77649282583
-
Mitochondrial dysfunction and mitophagy activation in blood mononuclear cells of fibromyalgia patients: Implications in the pathogenesis of the disease
-
M.D. Cordero, M. De Miguel, A.M. Moreno Fernández, I.M. Carmona López, J. Garrido Maraver, D. Cotán, and et al. Mitochondrial dysfunction and mitophagy activation in blood mononuclear cells of fibromyalgia patients: implications in the pathogenesis of the disease Arthritis Res Ther 12 2010 R17
-
(2010)
Arthritis Res Ther
, vol.12
, pp. R17
-
-
Cordero, M.D.1
De Miguel, M.2
Moreno Fernández, A.M.3
Carmona López, I.M.4
Garrido Maraver, J.5
Cotán, D.6
-
49
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
T.A. Manolio, F.S. Collins, N.J. Cox, D.B. Goldstein, L.A. Hindorff, D.J. Hunter, and et al. Finding the missing heritability of complex diseases Nature 461 2009 747 753
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
Goldstein, D.B.4
Hindorff, L.A.5
Hunter, D.J.6
-
50
-
-
67249117049
-
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
-
L.A. Hindorff, P. Sethupathy, H.A. Junkins, E.M. Ramos, and J.P. Mehta Potential etiologic and functional implications of genome-wide association loci for human diseases and traits Proc Natl Acad Sci USA 106 2009 9362 9367
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 9362-9367
-
-
Hindorff, L.A.1
Sethupathy, P.2
Junkins, H.A.3
Ramos, E.M.4
Mehta, J.P.5
-
51
-
-
84860440529
-
Genome-wide association studies with metabolomics
-
J. Adamski Genome-wide association studies with metabolomics Genome Med 4 4 2012
-
(2012)
Genome Med
, vol.4
, Issue.4
-
-
Adamski, J.1
-
54
-
-
84155172490
-
Applications of mass spectrometry to metabolomics and metabolomics: Detection of biomarkers of aging and of age-related diseases
-
R.J. Mishur, and S.L. Rea Applications of mass spectrometry to metabolomics and metabolomics: detection of biomarkers of aging and of age-related diseases Mass Spectrom Rev 31 1 2012 70 95
-
(2012)
Mass Spectrom Rev
, vol.31
, Issue.1
, pp. 70-95
-
-
Mishur, R.J.1
Rea, S.L.2
|