-
1
-
-
0028574053
-
Mitochondrial DNA sequence variation in human evolution and disease
-
doi:8739
-
Wallace DC. Mitochondrial DNA sequence variation in human evolution and disease. Proc Natl Acad Sci U S A 1994; 91: 8739-8746.
-
(1994)
Proc Natl Acad Sci U S A
, vol.91
, pp. 8739-8746
-
-
Wallace, D.C.1
-
2
-
-
0025368281
-
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
-
Shoffner JM, Lott MT, Lezza AM, et al. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 1990; 61: 931-937.
-
(1990)
Cell
, vol.61
, pp. 931-937
-
-
Shoffner, J.M.1
Lott, M.T.2
Lezza, A.M.3
-
3
-
-
63749113046
-
Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys
-
Erol I, Alehan F, Horvath R, et al. Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys. Neuromuscul Disord 2009; 19: 275-278.
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 275-278
-
-
Erol, I.1
Alehan, F.2
Horvath, R.3
-
4
-
-
0024163051
-
Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease
-
Wallace DC, Zheng XX, Lott MT, et al. Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell 1988; 55: 601-610.
-
(1988)
Cell
, vol.55
, pp. 601-610
-
-
Wallace, D.C.1
Zheng, X.X.2
Lott, M.T.3
-
5
-
-
0028811504
-
The 8,344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings
-
Ozawa M, Goto Y, Sakuta R, et al. The 8, 344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings. Neuromuscul Disord 1995; 5: 483-488.
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 483-488
-
-
Ozawa, M.1
Goto, Y.2
Sakuta, R.3
-
6
-
-
62449282253
-
A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features
-
Blakely EL, Trip SA, Swalwell H, et al. A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features. Arch Neurol 2009; 66: 399-402.
-
(2009)
Arch Neurol
, vol.66
, pp. 399-402
-
-
Blakely, E.L.1
Trip, S.A.2
Swalwell, H.3
-
7
-
-
67349196844
-
Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study
-
Virgilio R, Ronchi D, Bordoni A, et al. Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study. J Neurol Sci 2009; 281: 85-92.
-
(2009)
J Neurol Sci
, vol.281
, pp. 85-92
-
-
Virgilio, R.1
Ronchi, D.2
Bordoni, A.3
-
8
-
-
0027288377
-
The mitochondrial DNA transfer RNA(Lys)A- & G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibers (MERRF). Relationship of Clinical Phenotype to Proportion of Mutant Mitochondrial DNA
-
Hammans SR, Sweeney MG, Brockington M, et al. The mitochondrial DNA transfer RNA(Lys)A-- & G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibers (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. Brain 1993; 116(pt 3): 617-632.
-
(1993)
Brain
, vol.116
, Issue.pt 3
, pp. 617-632
-
-
Hammans, S.R.1
Sweeney, M.G.2
Brockington, M.3
-
9
-
-
0029059067
-
MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination
-
Enriquez JA, Chomyn A, Attardi G. MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination. Nat Genet 1995; 10: 47-55.
-
(1995)
Nat Genet
, vol.10
, pp. 47-55
-
-
Enriquez, J.A.1
Chomyn, A.2
Attardi, G.3
-
10
-
-
0033968067
-
Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation
-
Yasukawa T, Suzuki T, Ishii N, et al. Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation. FEBS Lett 2000; 467: 175-178.
-
(2000)
FEBS Lett
, vol.467
, pp. 175-178
-
-
Yasukawa, T.1
Suzuki, T.2
Ishii, N.3
-
11
-
-
0033556240
-
Decreased ATP synthesis is phenotypically expressed during increased energy demand in fibroblasts containing mitochondrial tRNA mutations
-
James AM, Sheard PW, Wei YH, et al. Decreased ATP synthesis is phenotypically expressed during increased energy demand in fibroblasts containing mitochondrial tRNA mutations. Eur J Biochem 1999; 259: 462-469.
-
(1999)
Eur J Biochem
, vol.259
, pp. 462-469
-
-
James, A.M.1
Sheard, P.W.2
Wei, Y.H.3
-
12
-
-
0029790507
-
Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations
-
James AM, Wei YH, Pang CY, et al. Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations. Biochem J 1996; 318(pt 2): 401-407.
-
(1996)
Biochem J
, vol.318
, Issue.pt 2
, pp. 401-407
-
-
James, A.M.1
Wei, Y.H.2
Pang, C.Y.3
-
13
-
-
0025968499
-
In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria
-
Chomyn A, Meola G, Bresolin N, et al. In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. Mol Cell Biol 1991; 11: 2236-2244.
-
(1991)
Mol Cell Biol
, vol.11
, pp. 2236-2244
-
-
Chomyn, A.1
Meola, G.2
Bresolin, N.3
-
14
-
-
0026621445
-
Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)
-
Boulet L, Karpati G, Shoubridge EA. Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 1992; 51: 1187-1200.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1187-1200
-
-
Boulet, L.1
Karpati, G.2
Shoubridge, E.A.3
-
15
-
-
77955089549
-
Mitochondrial DNA mutation-elicited oxidative stress, oxidative damage, and altered gene expression in cultured cells of patients with MERRF syndrome
-
Wu SB, Ma YS, Wu YT, et al. Mitochondrial DNA mutation-elicited oxidative stress, oxidative damage, and altered gene expression in cultured cells of patients with MERRF syndrome. Mol Neurobiol 2010; 41: 256-266.
-
(2010)
Mol Neurobiol
, vol.41
, pp. 256-266
-
-
Wu, S.B.1
Ma, Y.S.2
Wu, Y.T.3
-
16
-
-
31544480133
-
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency
-
Quinzii C, Naini A, Salviati L, et al. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet 2006; 78: 345-349.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 345-349
-
-
Quinzii, C.1
Naini, A.2
Salviati, L.3
-
17
-
-
0024448458
-
Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation
-
King MP, Attardi G. Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 1989; 246: 500-503.
-
(1989)
Sci Dig (NY)
, vol.246
, pp. 500-503
-
-
King, M.P.1
Attardi, G.2
-
18
-
-
0027931039
-
Biochemical and molecular investigations in respiratory chain deficiencies
-
Rustin P, Chretien D, Bourgeron T, et al. Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 1994; 228: 35-51.
-
(1994)
Clin Chim Acta
, vol.228
, pp. 35-51
-
-
Rustin, P.1
Chretien, D.2
Bourgeron, T.3
-
19
-
-
71849104860
-
Protein measurement with the Folin phenol reagent
-
Lowry OH, Rosebrough NJ, Farr AL, et al. Protein measurement with the Folin phenol reagent. J Biol Chem 1951; 193: 265-275.
-
(1951)
J Biol Chem
, vol.193
, pp. 265-275
-
-
Lowry, O.H.1
Rosebrough, N.J.2
Farr, A.L.3
-
20
-
-
58149376131
-
Coenzyme Q deficiency triggers mitochondria degradation by mitophagy
-
Rodriguez-Hernandez A, Cordero MD, Salviati L, et al. Coenzyme Q deficiency triggers mitochondria degradation by mitophagy. Autophagy 2009; 5: 19-32.
-
(2009)
Autophagy
, vol.5
, pp. 19-32
-
-
Rodriguez-Hernandez, A.1
Cordero, M.D.2
Salviati, L.3
-
21
-
-
33646946746
-
Senescence-associated beta-galactosidase is lysosomal beta-galactosidase
-
Lee BY, Han JA, Im JS, et al. Senescence-associated beta-galactosidase is lysosomal beta-galactosidase. Aging Cell 2006; 5: 187-195.
-
(2006)
Aging Cell
, vol.5
, pp. 187-195
-
-
Lee, B.Y.1
Han, J.A.2
Im, J.S.3
-
22
-
-
74249105071
-
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy
-
Sacconi S, Trevisson E, Salviati L, et al. Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy. Neuromuscul Disord 2010; 20: 44-48.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 44-48
-
-
Sacconi, S.1
Trevisson, E.2
Salviati, L.3
-
23
-
-
0030613796
-
Bcl-xL regulates the membrane potential and volume homeostasis of mitochondria
-
Vander Heiden MG, Chandel NS, Williamson EK, et al. Bcl-xL regulates the membrane potential and volume homeostasis of mitochondria. Cell 1997; 91: 627-637.
-
(1997)
Cell
, vol.91
, pp. 627-637
-
-
Vander Heiden, M.G.1
Chandel, N.S.2
Williamson, E.K.3
-
24
-
-
34247186472
-
Reactive oxygen species are essential for autophagy and specifically regulate the activity of Atg4
-
Scherz-Shouval R, Shvets E, Fass E, et al. Reactive oxygen species are essential for autophagy and specifically regulate the activity of Atg4. EMBO J 2007; 26: 1749-1760.
-
(2007)
EMBO J
, vol.26
, pp. 1749-1760
-
-
Scherz-Shouval, R.1
Shvets, E.2
Fass, E.3
-
25
-
-
58149400513
-
Human CoQ10 deficiencies
-
Quinzii CM, Lopez LC, Naini A, et al. Human CoQ10 deficiencies. BioFactors (Oxford, England) 2008; 32: 113-118.
-
(2008)
BioFactors (Oxford, England)
, vol.32
, pp. 113-118
-
-
Quinzii, C.M.1
Lopez, L.C.2
Naini, A.3
-
26
-
-
77649282583
-
Mitochondrial dysfunction and mitophagy activation in blood mononuclear cells of fibromyalgia patients: implications in the pathogenesis of the disease
-
Cordero MD, De Miguel M, Moreno Fernandez AM, et al. Mitochondrial dysfunction and mitophagy activation in blood mononuclear cells of fibromyalgia patients: implications in the pathogenesis of the disease. Arthritis Res Ther 2010; 12: R17.
-
(2010)
Arthritis Res Ther
, vol.12
-
-
Cordero, M.D.1
de Miguel, M.2
Moreno Fernandez, A.M.3
-
27
-
-
59649089784
-
Coenzyme q10: is there a clinical role and a case for measurement?
-
Molyneux SL, Young JM, Florkowski CM, et al. Coenzyme Q10: is there a clinical role and a case for measurement? Clin Biochem Rev 2008; 29(2): 71-82.
-
(2008)
Clin Biochem Rev
, vol.29
, pp. 71-82
-
-
Molyneux, S.L.1
Young, J.M.2
Florkowski, C.M.3
-
28
-
-
1542467765
-
The coenzyme Q10 analog decylubiquinone inhibits the redox-activated mitochondrial permeability transition: role of mitcohondrial [correction mitochondrial] complex III
-
Armstrong JS, Whiteman M, Rose P, et al. The coenzyme Q10 analog decylubiquinone inhibits the redox-activated mitochondrial permeability transition: role of mitcohondrial [correction mitochondrial] complex III. J Biol Chem 2003; 278: 49079-49084.
-
(2003)
J Biol Chem
, vol.278
, pp. 49079-49084
-
-
Armstrong, J.S.1
Whiteman, M.2
Rose, P.3
-
29
-
-
80051675804
-
Secondary coenzyme Q10 deficiency triggers mitochondria degradation by mitophagy in MELAS fibroblasts
-
Cotan D, Cordero MD, Garrido-Maraver J, et al. Secondary coenzyme Q10 deficiency triggers mitochondria degradation by mitophagy in MELAS fibroblasts. FASEB J 2011; 25: 2669-2687.
-
(2011)
FASEB J
, vol.25
, pp. 2669-2687
-
-
Cotan, D.1
Cordero, M.D.2
Garrido-Maraver, J.3
-
31
-
-
26444582983
-
Genetic dissection of the permeability transition pore
-
Forte M, Bernardi P. Genetic dissection of the permeability transition pore. J Bioenerg Biomembr 2005; 37: 121-128.
-
(2005)
J Bioenerg Biomembr
, vol.37
, pp. 121-128
-
-
Forte, M.1
Bernardi, P.2
-
32
-
-
0029116916
-
The mitochondrial permeability transition
-
Zoratti M, Szabo I. The mitochondrial permeability transition. Biochim Biophys Acta 1995; 1241: 139-176.
-
(1995)
Biochim Biophys Acta
, vol.1241
, pp. 139-176
-
-
Zoratti, M.1
Szabo, I.2
-
33
-
-
75949130828
-
PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1
-
Geisler S, Holmstrom KM, Skujat D, et al. PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1. Nat Cell Biol 2010; 12: 119-131.
-
(2010)
Nat Cell Biol
, vol.12
, pp. 119-131
-
-
Geisler, S.1
Holmstrom, K.M.2
Skujat, D.3
|