-
1
-
-
84858688425
-
Epigenetics, epidemiology and mitochondrial DNA diseases
-
Chinnery P.F., et al. Epigenetics, epidemiology and mitochondrial DNA diseases. Int. J. Epidemiol. 2012, 41:177-187.
-
(2012)
Int. J. Epidemiol.
, vol.41
, pp. 177-187
-
-
Chinnery, P.F.1
-
2
-
-
77949882290
-
Mitochondrial energetics and therapeutics
-
Wallace D.C., et al. Mitochondrial energetics and therapeutics. Annu. Rev. Pathol. 2010, 5:297-348.
-
(2010)
Annu. Rev. Pathol.
, vol.5
, pp. 297-348
-
-
Wallace, D.C.1
-
3
-
-
77952102927
-
Genetic background influences mitochondrial function: modeling mitochondrial disease for therapeutic development
-
Benit P., et al. Genetic background influences mitochondrial function: modeling mitochondrial disease for therapeutic development. Trends Mol. Med. 2010, 16:210-217.
-
(2010)
Trends Mol. Med.
, vol.16
, pp. 210-217
-
-
Benit, P.1
-
4
-
-
84859436493
-
CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders
-
Hirano M., et al. CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders. Biochim. Biophys. Acta. 2012, 1820:625-631.
-
(2012)
Biochim. Biophys. Acta.
, vol.1820
, pp. 625-631
-
-
Hirano, M.1
-
5
-
-
84858693597
-
Monogenic mitochondrial disorders
-
Koopman W.J., et al. Monogenic mitochondrial disorders. N. Engl. J. Med. 2012, 366:1132-1141.
-
(2012)
N. Engl. J. Med.
, vol.366
, pp. 1132-1141
-
-
Koopman, W.J.1
-
6
-
-
0029587469
-
Molecular genetic aspects of human mitochondrial disorders
-
Larsson N.G., Clayton D.A. Molecular genetic aspects of human mitochondrial disorders. Annu. Rev. Genet. 1995, 29:151-178.
-
(1995)
Annu. Rev. Genet.
, vol.29
, pp. 151-178
-
-
Larsson, N.G.1
Clayton, D.A.2
-
7
-
-
38949091096
-
Strong purifying selection in transmission of mammalian mitochondrial DNA
-
Stewart J.B., et al. Strong purifying selection in transmission of mammalian mitochondrial DNA. PLoS Biol. 2008, 6:e10.
-
(2008)
PLoS Biol.
, vol.6
-
-
Stewart, J.B.1
-
8
-
-
79251646694
-
An update on targeted gene repair in mammalian cells: methods and mechanisms
-
Jensen N.M., et al. An update on targeted gene repair in mammalian cells: methods and mechanisms. J. Biomed. Sci. 2011, 18:10.
-
(2011)
J. Biomed. Sci.
, vol.18
, pp. 10
-
-
Jensen, N.M.1
-
9
-
-
0035223057
-
Genetic transformation of Saccharomyces cerevisiae mitochondria
-
Bonnefoy N., Fox T.D. Genetic transformation of Saccharomyces cerevisiae mitochondria. Methods Cell Biol. 2001, 65:381-396.
-
(2001)
Methods Cell Biol.
, vol.65
, pp. 381-396
-
-
Bonnefoy, N.1
Fox, T.D.2
-
10
-
-
34249731998
-
Targeting allotopic material to the mitochondrial compartment: new tools for better understanding mitochondrial physiology and prospect for therapy
-
(in French)
-
Rustin P., et al. Targeting allotopic material to the mitochondrial compartment: new tools for better understanding mitochondrial physiology and prospect for therapy. Med. Sci. (Paris) 2007, 23:519-525. (in French).
-
(2007)
Med. Sci. (Paris)
, vol.23
, pp. 519-525
-
-
Rustin, P.1
-
11
-
-
80051930449
-
Origins and recombination of the bacterial-sized multichromosomal mitochondrial genome of cucumber
-
Alverson A.J., et al. Origins and recombination of the bacterial-sized multichromosomal mitochondrial genome of cucumber. Plant Cell 2011, 23:2499-2513.
-
(2011)
Plant Cell
, vol.23
, pp. 2499-2513
-
-
Alverson, A.J.1
-
12
-
-
33947315128
-
MRNA specific subcellular localization represents a crucial step for fine-tuning of gene expression in mammalian cells
-
Corral-Debrinski M. mRNA specific subcellular localization represents a crucial step for fine-tuning of gene expression in mammalian cells. Biochim. Biophys. Acta. 2007, 1773:473-475.
-
(2007)
Biochim. Biophys. Acta.
, vol.1773
, pp. 473-475
-
-
Corral-Debrinski, M.1
-
13
-
-
78651344935
-
Allotopic expression of mitochondrial-encoded genes in mammals: achieved goal, undemonstrated mechanism or impossible task?
-
Perales-Clemente E., et al. Allotopic expression of mitochondrial-encoded genes in mammals: achieved goal, undemonstrated mechanism or impossible task?. Nucleic Acids Res. 2011, 39:225-234.
-
(2011)
Nucleic Acids Res.
, vol.39
, pp. 225-234
-
-
Perales-Clemente, E.1
-
14
-
-
34548404338
-
Modulating mtDNA heteroplasmy by mitochondria-targeted restriction endonucleases in a 'differential multiple cleavage-site' model
-
Bacman S.R., et al. Modulating mtDNA heteroplasmy by mitochondria-targeted restriction endonucleases in a 'differential multiple cleavage-site' model. Gene Ther. 2007, 14:1309-1318.
-
(2007)
Gene Ther.
, vol.14
, pp. 1309-1318
-
-
Bacman, S.R.1
-
15
-
-
33745116978
-
A glycolytic enzyme, enolase, is recruited as a cofactor of tRNA targeting toward mitochondria in Saccharomyces cerevisiae
-
Entelis N., et al. A glycolytic enzyme, enolase, is recruited as a cofactor of tRNA targeting toward mitochondria in Saccharomyces cerevisiae. Genes Dev. 2006, 20:1609-1620.
-
(2006)
Genes Dev.
, vol.20
, pp. 1609-1620
-
-
Entelis, N.1
-
16
-
-
84856728004
-
Downregulation of apoptosis-inducing factor in Harlequin mice induces progressive and severe optic atrophy which is durably prevented by AAV2-AIF1 gene therapy
-
Bouaita A., et al. Downregulation of apoptosis-inducing factor in Harlequin mice induces progressive and severe optic atrophy which is durably prevented by AAV2-AIF1 gene therapy. Brain 2012, 135:35-52.
-
(2012)
Brain
, vol.135
, pp. 35-52
-
-
Bouaita, A.1
-
17
-
-
13344270899
-
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V., et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996, 271:1423-1427.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
-
18
-
-
79954628287
-
Prolonged treatment with pimelic O-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model
-
Sandi C., et al. Prolonged treatment with pimelic O-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model. Neurobiol. Dis. 2011, 42:496-505.
-
(2011)
Neurobiol. Dis.
, vol.42
, pp. 496-505
-
-
Sandi, C.1
-
19
-
-
60849099038
-
Bezafibrate for an inborn mitochondrial beta-oxidation defect
-
Bonnefont J.P., et al. Bezafibrate for an inborn mitochondrial beta-oxidation defect. N. Engl. J. Med. 2009, 360:838-840.
-
(2009)
N. Engl. J. Med.
, vol.360
, pp. 838-840
-
-
Bonnefont, J.P.1
-
20
-
-
77956318471
-
PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia
-
Marmolino D., et al. PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia. PLoS ONE 2010, 5:e10025.
-
(2010)
PLoS ONE
, vol.5
-
-
Marmolino, D.1
-
21
-
-
79959314684
-
In vivo correction of COX deficiency by activation of the AMPK/PGC-1alpha Axis
-
Viscomi C., et al. In vivo correction of COX deficiency by activation of the AMPK/PGC-1alpha Axis. Cell Metab. 2011, 14:80-90.
-
(2011)
Cell Metab.
, vol.14
, pp. 80-90
-
-
Viscomi, C.1
-
22
-
-
50049118173
-
Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype
-
Wenz T., et al. Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype. Cell Metab. 2008, 8:249-256.
-
(2008)
Cell Metab.
, vol.8
, pp. 249-256
-
-
Wenz, T.1
-
23
-
-
84856092782
-
Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice
-
Yatsuga S., Suomalainen A. Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice. Hum. Mol. Genet. 2012, 21:526-535.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 526-535
-
-
Yatsuga, S.1
Suomalainen, A.2
-
24
-
-
82955193720
-
Species differences in the effects of bezafibrate as a potential treatment of mitochondrial disorders
-
Djouadi F., Bastin J. Species differences in the effects of bezafibrate as a potential treatment of mitochondrial disorders. Cell Metab. 2011, 14:715-716.
-
(2011)
Cell Metab.
, vol.14
, pp. 715-716
-
-
Djouadi, F.1
Bastin, J.2
-
25
-
-
33845399894
-
Resveratrol improves mitochondrial function and protects against metabolic disease by activating SIRT1 and PGC-1alpha
-
Lagouge M., et al. Resveratrol improves mitochondrial function and protects against metabolic disease by activating SIRT1 and PGC-1alpha. Cell 2006, 127:1109-1122.
-
(2006)
Cell
, vol.127
, pp. 1109-1122
-
-
Lagouge, M.1
-
26
-
-
79955442484
-
Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts
-
Bastin J., et al. Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts. Hum. Mol. Genet. 2011, 20:2048-2057.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 2048-2057
-
-
Bastin, J.1
-
27
-
-
79551631857
-
Mitochondrial response to controlled nutrition in health and disease
-
Schiff M., et al. Mitochondrial response to controlled nutrition in health and disease. Nutr. Rev. 2011, 69:65-75.
-
(2011)
Nutr. Rev.
, vol.69
, pp. 65-75
-
-
Schiff, M.1
-
28
-
-
33645769763
-
Allotopic expression of a mitochondrial alternative oxidase confers cyanide resistance to human cell respiration
-
Hakkaart G.A., et al. Allotopic expression of a mitochondrial alternative oxidase confers cyanide resistance to human cell respiration. EMBO Rep. 2006, 7:341-345.
-
(2006)
EMBO Rep.
, vol.7
, pp. 341-345
-
-
Hakkaart, G.A.1
-
29
-
-
65349167880
-
Expression of the Ciona intestinalis alternative oxidase (AOX) in Drosophila complements defects in mitochondrial oxidative phosphorylation
-
Fernandez-Ayala D.J., et al. Expression of the Ciona intestinalis alternative oxidase (AOX) in Drosophila complements defects in mitochondrial oxidative phosphorylation. Cell Metab. 2009, 9:449-460.
-
(2009)
Cell Metab.
, vol.9
, pp. 449-460
-
-
Fernandez-Ayala, D.J.1
-
30
-
-
70450247586
-
Expression of the alternative oxidase complements cytochrome c oxidase deficiency in human cells
-
Dassa E.P., et al. Expression of the alternative oxidase complements cytochrome c oxidase deficiency in human cells. EMBO Mol. Med. 2009, 1:30-36.
-
(2009)
EMBO Mol. Med.
, vol.1
, pp. 30-36
-
-
Dassa, E.P.1
-
31
-
-
33745590836
-
Possibility of transkingdom gene therapy for complex I diseases
-
Yagi T., et al. Possibility of transkingdom gene therapy for complex I diseases. Biochim. Biophys. Acta. 2006, 1757:708-714.
-
(2006)
Biochim. Biophys. Acta.
, vol.1757
, pp. 708-714
-
-
Yagi, T.1
-
32
-
-
75149146005
-
Antenatal glucocorticoid therapy accelerates ATP production with creatine kinase increase in the growth-enhanced fetal rat heart
-
Mizuno M., et al. Antenatal glucocorticoid therapy accelerates ATP production with creatine kinase increase in the growth-enhanced fetal rat heart. Circ. J. 2010, 74:171-180.
-
(2010)
Circ. J.
, vol.74
, pp. 171-180
-
-
Mizuno, M.1
-
33
-
-
72149128219
-
A critical approach to the therapy of mitochondrial respiratory chain and oxidative phosphorylation diseases
-
Dimauro S., Rustin P. A critical approach to the therapy of mitochondrial respiratory chain and oxidative phosphorylation diseases. Biochim. Biophys. Acta. 2008, 1792:1159-1167.
-
(2008)
Biochim. Biophys. Acta.
, vol.1792
, pp. 1159-1167
-
-
Dimauro, S.1
Rustin, P.2
-
34
-
-
0026326943
-
Hydrogen peroxide-induced renal injury. A protective role for pyruvate in vitro and in vivo
-
Salahudeen A.K., et al. Hydrogen peroxide-induced renal injury. A protective role for pyruvate in vitro and in vivo. J. Clin. Invest. 1991, 88:1886-1893.
-
(1991)
J. Clin. Invest.
, vol.88
, pp. 1886-1893
-
-
Salahudeen, A.K.1
-
35
-
-
80053628321
-
Friedreich's ataxia: the vicious circle hypothesis revisited
-
Bayot A., et al. Friedreich's ataxia: the vicious circle hypothesis revisited. BMC Med. 2011, 9:112.
-
(2011)
BMC Med.
, vol.9
, pp. 112
-
-
Bayot, A.1
-
36
-
-
0033533071
-
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study
-
Rustin P., et al. Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet 1999, 354:477-479.
-
(1999)
Lancet
, vol.354
, pp. 477-479
-
-
Rustin, P.1
-
38
-
-
0036398010
-
Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits
-
Geromel V., et al. Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits. Mol. Genet. Metab. 2002, 77:21-30.
-
(2002)
Mol. Genet. Metab.
, vol.77
, pp. 21-30
-
-
Geromel, V.1
-
39
-
-
84856732716
-
Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study
-
Meier T., et al. Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study. J. Neurol. 2012, 259:284-291.
-
(2012)
J. Neurol.
, vol.259
, pp. 284-291
-
-
Meier, T.1
-
40
-
-
0036221156
-
Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia
-
Hausse A.O., et al. Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Heart 2002, 87:346-349.
-
(2002)
Heart
, vol.87
, pp. 346-349
-
-
Hausse, A.O.1
-
41
-
-
80052959702
-
A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy
-
Klopstock T., et al. A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy. Brain 2011, 134:2677-2686.
-
(2011)
Brain
, vol.134
, pp. 2677-2686
-
-
Klopstock, T.1
-
42
-
-
0034730011
-
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency
-
Rotig A., et al. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet 2000, 356:391-395.
-
(2000)
Lancet
, vol.356
, pp. 391-395
-
-
Rotig, A.1
-
43
-
-
80054861726
-
Primary and secondary CoQ(10) deficiencies in humans
-
Quinzii C.M., Hirano M. Primary and secondary CoQ(10) deficiencies in humans. Biofactors 2011, 37:361-365.
-
(2011)
Biofactors
, vol.37
, pp. 361-365
-
-
Quinzii, C.M.1
Hirano, M.2
-
44
-
-
19944433653
-
Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase
-
Selak M.A., et al. Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase. Cancer Cell 2005, 7:77-85.
-
(2005)
Cancer Cell
, vol.7
, pp. 77-85
-
-
Selak, M.A.1
-
45
-
-
27744606274
-
Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions
-
Briere J.J., et al. Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions. Hum. Mol. Genet. 2005, 14:3263-3269.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 3263-3269
-
-
Briere, J.J.1
-
46
-
-
18544365990
-
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
-
Tomlinson I.P., et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat. Genet. 2002, 30:406-410.
-
(2002)
Nat. Genet.
, vol.30
, pp. 406-410
-
-
Tomlinson, I.P.1
-
47
-
-
77956503391
-
Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism
-
O'Flaherty L., et al. Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism. Hum. Mol. Genet. 2011, 19:3844-3851.
-
(2011)
Hum. Mol. Genet.
, vol.19
, pp. 3844-3851
-
-
O'Flaherty, L.1
-
48
-
-
4344575973
-
Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseases
-
Panetta J., et al. Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseases. J. Inherit. Metab. Dis. 2004, 27:487-498.
-
(2004)
J. Inherit. Metab. Dis.
, vol.27
, pp. 487-498
-
-
Panetta, J.1
-
49
-
-
13844267408
-
Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency
-
de Meer K., et al. Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency. J. Inherit. Metab. Dis. 2005, 28:95-98.
-
(2005)
J. Inherit. Metab. Dis.
, vol.28
, pp. 95-98
-
-
de Meer, K.1
-
50
-
-
0036152036
-
Triacylglycerol infusion does not improve hyperlactemia in resting patients with mitochondrial myopathy due to complex I deficiency
-
Roef M.J., et al. Triacylglycerol infusion does not improve hyperlactemia in resting patients with mitochondrial myopathy due to complex I deficiency. Am. J. Clin. Nutr. 2002, 75:228-236.
-
(2002)
Am. J. Clin. Nutr.
, vol.75
, pp. 228-236
-
-
Roef, M.J.1
-
51
-
-
0036157127
-
Triacylglycerol infusion improves exercise endurance in patients with mitochondrial myopathy due to complex I deficiency
-
Roef M.J., et al. Triacylglycerol infusion improves exercise endurance in patients with mitochondrial myopathy due to complex I deficiency. Am. J. Clin. Nutr. 2002, 75:237-244.
-
(2002)
Am. J. Clin. Nutr.
, vol.75
, pp. 237-244
-
-
Roef, M.J.1
-
52
-
-
0006132932
-
Fatty acids and eicosanoids regulate gene expression through direct interactions with peroxisome proliferator-activated receptors alpha and gamma
-
Kliewer S.A., et al. Fatty acids and eicosanoids regulate gene expression through direct interactions with peroxisome proliferator-activated receptors alpha and gamma. Proc. Natl. Acad. Sci. U.S.A. 1997, 94:4318-4323.
-
(1997)
Proc. Natl. Acad. Sci. U.S.A.
, vol.94
, pp. 4318-4323
-
-
Kliewer, S.A.1
-
53
-
-
45549089279
-
High-fat diets cause insulin resistance despite an increase in muscle mitochondria
-
Hancock C.R., et al. High-fat diets cause insulin resistance despite an increase in muscle mitochondria. Proc. Natl. Acad. Sci. U.S.A. 2008, 105:7815-7820.
-
(2008)
Proc. Natl. Acad. Sci. U.S.A.
, vol.105
, pp. 7815-7820
-
-
Hancock, C.R.1
-
54
-
-
33846212708
-
Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects
-
Kang H.C., et al. Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects. Epilepsia 2007, 48:82-88.
-
(2007)
Epilepsia
, vol.48
, pp. 82-88
-
-
Kang, H.C.1
-
55
-
-
33746848935
-
Mitochondrial biogenesis in the anticonvulsant mechanism of the ketogenic diet
-
Bough K.J., et al. Mitochondrial biogenesis in the anticonvulsant mechanism of the ketogenic diet. Ann. Neurol. 2006, 60:223-235.
-
(2006)
Ann. Neurol.
, vol.60
, pp. 223-235
-
-
Bough, K.J.1
-
56
-
-
44549083390
-
Are purines mediators of the anticonvulsant/neuroprotective effects of ketogenic diets?
-
Masino S.A., Geiger J.D. Are purines mediators of the anticonvulsant/neuroprotective effects of ketogenic diets?. Trends Neurosci. 2008, 31:273-278.
-
(2008)
Trends Neurosci.
, vol.31
, pp. 273-278
-
-
Masino, S.A.1
Geiger, J.D.2
-
57
-
-
33846852428
-
Ketones inhibit mitochondrial production of reactive oxygen species production following glutamate excitotoxicity by increasing NADH oxidation
-
Maalouf M., et al. Ketones inhibit mitochondrial production of reactive oxygen species production following glutamate excitotoxicity by increasing NADH oxidation. Neuroscience 2007, 145:256-264.
-
(2007)
Neuroscience
, vol.145
, pp. 256-264
-
-
Maalouf, M.1
-
58
-
-
9144268527
-
Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells
-
Santra S., et al. Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells. Ann. Neurol. 2004, 56:662-669.
-
(2004)
Ann. Neurol.
, vol.56
, pp. 662-669
-
-
Santra, S.1
-
59
-
-
77952485613
-
Ketogenic diet slows down mitochondrial myopathy progression in mice
-
Ahola-Erkkila S., et al. Ketogenic diet slows down mitochondrial myopathy progression in mice. Hum. Mol. Genet. 2010, 19:1974-1984.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 1974-1984
-
-
Ahola-Erkkila, S.1
-
60
-
-
83255164009
-
Mouse studies to shape clinical trials for mitochondrial diseases: high fat diet in Harlequin mice
-
Schiff M., et al. Mouse studies to shape clinical trials for mitochondrial diseases: high fat diet in Harlequin mice. PLoS ONE 2011, 6:e28823.
-
(2011)
PLoS ONE
, vol.6
-
-
Schiff, M.1
-
61
-
-
52449131120
-
The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes
-
Benit P., et al. The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes. PLoS ONE 2008, 3:e3208.
-
(2008)
PLoS ONE
, vol.3
-
-
Benit, P.1
-
62
-
-
0036071008
-
Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride
-
Roe C.R., et al. Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride. J. Clin. Invest. 2002, 110:259-269.
-
(2002)
J. Clin. Invest.
, vol.110
, pp. 259-269
-
-
Roe, C.R.1
-
63
-
-
0025128972
-
Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria
-
Watmough N.J., et al. Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria. J. Clin. Invest. 1990, 85:177-184.
-
(1990)
J. Clin. Invest.
, vol.85
, pp. 177-184
-
-
Watmough, N.J.1
-
64
-
-
33745865153
-
Diminished hepatic gluconeogenesis via defects in tricarboxylic acid cycle flux in peroxisome proliferator-activated receptor gamma coactivator-1alpha (PGC-1alpha)-deficient mice
-
Burgess S.C., et al. Diminished hepatic gluconeogenesis via defects in tricarboxylic acid cycle flux in peroxisome proliferator-activated receptor gamma coactivator-1alpha (PGC-1alpha)-deficient mice. J. Biol. Chem. 2006, 281:19000-19008.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 19000-19008
-
-
Burgess, S.C.1
-
65
-
-
55749097063
-
Train, train, train! No pain, just gain
-
Zeviani M. Train, train, train! No pain, just gain. Brain 2008, 131:2809-2811.
-
(2008)
Brain
, vol.131
, pp. 2809-2811
-
-
Zeviani, M.1
-
66
-
-
33845288002
-
Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy
-
Jeppesen T.D., et al. Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy. Brain 2006, 129:3402-3412.
-
(2006)
Brain
, vol.129
, pp. 3402-3412
-
-
Jeppesen, T.D.1
-
67
-
-
0030779230
-
Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy
-
Shoubridge E.A., et al. Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy. Hum. Mol. Genet. 1997, 6:2239-2242.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 2239-2242
-
-
Shoubridge, E.A.1
-
68
-
-
55749115090
-
Resistance training in patients with single, large-scale deletions of mitochondrial DNA
-
Murphy J.L., et al. Resistance training in patients with single, large-scale deletions of mitochondrial DNA. Brain 2008, 131:2832-2840.
-
(2008)
Brain
, vol.131
, pp. 2832-2840
-
-
Murphy, J.L.1
-
69
-
-
66349120223
-
Endurance exercise is protective for mice with mitochondrial myopathy
-
Wenz T., et al. Endurance exercise is protective for mice with mitochondrial myopathy. J. Appl. Physiol. 2009, 106:1712-1719.
-
(2009)
J. Appl. Physiol.
, vol.106
, pp. 1712-1719
-
-
Wenz, T.1
-
70
-
-
80054691291
-
Exercise training increases mitochondrial biogenesis in the brain
-
Steiner J.L., et al. Exercise training increases mitochondrial biogenesis in the brain. J. Appl. Physiol. 2011, 111:1066-1071.
-
(2011)
J. Appl. Physiol.
, vol.111
, pp. 1066-1071
-
-
Steiner, J.L.1
-
71
-
-
79952753140
-
Endurance exercise rescues progeroid aging and induces systemic mitochondrial rejuvenation in mtDNA mutator mice
-
Safdar A., et al. Endurance exercise rescues progeroid aging and induces systemic mitochondrial rejuvenation in mtDNA mutator mice. Proc. Natl. Acad. Sci. U.S.A. 2011, 108:4135-4140.
-
(2011)
Proc. Natl. Acad. Sci. U.S.A.
, vol.108
, pp. 4135-4140
-
-
Safdar, A.1
-
72
-
-
79960685564
-
Habitual physical activity in mitochondrial disease
-
Apabhai S., et al. Habitual physical activity in mitochondrial disease. PLoS ONE 2011, 6:e22294.
-
(2011)
PLoS ONE
, vol.6
-
-
Apabhai, S.1
-
73
-
-
0034783487
-
Heart transplantation in children with mitochondrial cardiomyopathy
-
Bonnet D., et al. Heart transplantation in children with mitochondrial cardiomyopathy. Heart 2001, 86:570-573.
-
(2001)
Heart
, vol.86
, pp. 570-573
-
-
Bonnet, D.1
-
74
-
-
0032722918
-
Liver transplantation in mitochondrial respiratory chain disorders
-
Sokal E.M., et al. Liver transplantation in mitochondrial respiratory chain disorders. Eur. J. Pediatr. 1999, 158(Suppl. 2):S81-S84.
-
(1999)
Eur. J. Pediatr.
, vol.158
, Issue.SUPPL. 2
-
-
Sokal, E.M.1
-
75
-
-
57849144280
-
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency
-
Dimmock D.P., et al. Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. Liver Transpl. 2008, 14:1480-1485.
-
(2008)
Liver Transpl.
, vol.14
, pp. 1480-1485
-
-
Dimmock, D.P.1
-
76
-
-
81055133547
-
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy
-
Garone C., et al. Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain 2011, 134:3326-3332.
-
(2011)
Brain
, vol.134
, pp. 3326-3332
-
-
Garone, C.1
-
77
-
-
33947197640
-
Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis
-
Yavuz H., et al. Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis. Arch. Neurol. 2007, 64:435-438.
-
(2007)
Arch. Neurol.
, vol.64
, pp. 435-438
-
-
Yavuz, H.1
-
78
-
-
33750293123
-
Infusion of platelets transiently reduces nucleoside overload in MNGIE
-
Lara M.C., et al. Infusion of platelets transiently reduces nucleoside overload in MNGIE. Neurology 2006, 67:1461-1463.
-
(2006)
Neurology
, vol.67
, pp. 1461-1463
-
-
Lara, M.C.1
-
79
-
-
33750306390
-
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE
-
Hirano M., et al. Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology 2006, 67:1458-1460.
-
(2006)
Neurology
, vol.67
, pp. 1458-1460
-
-
Hirano, M.1
-
80
-
-
67349183376
-
Developing a genetic approach to investigate the mechanism of mitochondrial competence for DNA import
-
Weber-Lotfi F., et al. Developing a genetic approach to investigate the mechanism of mitochondrial competence for DNA import. Biochim. Biophys. Acta. 2009, 1787:320-327.
-
(2009)
Biochim. Biophys. Acta.
, vol.1787
, pp. 320-327
-
-
Weber-Lotfi, F.1
|