-
1
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S., Bankier A.T., Barrell B.G., et al. Sequence and organization of the human mitochondrial genome. Nature. 290:1981;457-465.
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
-
2
-
-
0033563018
-
Quantitation and origin of the mitochondrial membrane potential in human cells lacking mitochondrial DNA
-
Appleby R.D., Porteous W.K., Hughes G., et al. Quantitation and origin of the mitochondrial membrane potential in human cells lacking mitochondrial DNA. Eur. J. Biochem. 262:1999;108-116.
-
(1999)
Eur. J. Biochem.
, vol.262
, pp. 108-116
-
-
Appleby, R.D.1
Porteous, W.K.2
Hughes, G.3
-
3
-
-
0029869891
-
Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family
-
Bakker H.D., Van den Bogert C., Scholte H.R., Zwart R., Wijburg F.A., Spelbrink J.N. Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family. J. Inherited Metab. Disord. 19:1996;112-114.
-
(1996)
J. Inherited Metab. Disord.
, vol.19
, pp. 112-114
-
-
Bakker, H.D.1
Van Den Bogert, C.2
Scholte, H.R.3
Zwart, R.4
Wijburg, F.A.5
Spelbrink, J.N.6
-
4
-
-
0032984049
-
Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures
-
Blake J.C., Taanman J.W., Morris A.M., et al. Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures. Am. J. Pathol. 155:1999;67-70.
-
(1999)
Am. J. Pathol.
, vol.155
, pp. 67-70
-
-
Blake, J.C.1
Taanman, J.W.2
Morris, A.M.3
-
5
-
-
0027496432
-
Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion
-
Bodnar A.G., Cooper J.M., Holt I.J., Leonard J.V., Schapira A.H. Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion. Am. J. Hum. Genetics. 53:1993;663-669.
-
(1993)
Am. J. Hum. Genetics
, vol.53
, pp. 663-669
-
-
Bodnar, A.G.1
Cooper, J.M.2
Holt, I.J.3
Leonard, J.V.4
Schapira, A.H.5
-
6
-
-
0033540276
-
Quantification of OXPHOS gene transcripts during muscle cell differentiation in patients with mitochondrial myopathies
-
Bonod-Bidaud C., Giraud S., Mandon G., Mousson B., Stepien G. Quantification of OXPHOS gene transcripts during muscle cell differentiation in patients with mitochondrial myopathies. Exp. Cell Res. 246:1999;91-97.
-
(1999)
Exp. Cell Res.
, vol.246
, pp. 91-97
-
-
Bonod-Bidaud, C.1
Giraud, S.2
Mandon, G.3
Mousson, B.4
Stepien, G.5
-
7
-
-
0032477340
-
Clinical heterogeneity associated with mitochondrial DNA depletion in muscle
-
Campos Y., Martin M.A., Garcia-Silva T., et al. Clinical heterogeneity associated with mitochondrial DNA depletion in muscle. Neuromusc. Disord. 8:1998;568-573.
-
(1998)
Neuromusc. Disord.
, vol.8
, pp. 568-573
-
-
Campos, Y.1
Martin, M.A.2
Garcia-Silva, T.3
-
8
-
-
0032923497
-
Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis
-
Ducluzeau P.H., Lachaux A., Bouvier R., Streichenberger N., Stepien G., Mousson B. Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis. J. Hepatol. 30:1999;149-155.
-
(1999)
J. Hepatol.
, vol.30
, pp. 149-155
-
-
Ducluzeau, P.H.1
Lachaux, A.2
Bouvier, R.3
Streichenberger, N.4
Stepien, G.5
Mousson, B.6
-
9
-
-
0032555742
-
Expression of human ANT2 gene in highly proliferative cells: GRBOX, a new transcriptional element, is involved in the regulation of glycolytic ATP import into mitochondria
-
Giraud S., Bonod-Bidaud C., Wesolowski-Louvel M., Stepien G. Expression of human ANT2 gene in highly proliferative cells: GRBOX, a new transcriptional element, is involved in the regulation of glycolytic ATP import into mitochondria. J. Mol. Biol. 281:1998;409-418.
-
(1998)
J. Mol. Biol.
, vol.281
, pp. 409-418
-
-
Giraud, S.1
Bonod-Bidaud, C.2
Wesolowski-Louvel, M.3
Stepien, G.4
-
10
-
-
0000648576
-
Coordinate expression of nuclear and mitochondrial genes involved in energy production in carcinoma and oncocytoma
-
Heddi A., Faure-Vigny H., Wallace D.C., Stepien G. Coordinate expression of nuclear and mitochondrial genes involved in energy production in carcinoma and oncocytoma. Biochim. Biophys. Acta. 1316:1996;203-209.
-
(1996)
Biochim. Biophys. Acta
, vol.1316
, pp. 203-209
-
-
Heddi, A.1
Faure-Vigny, H.2
Wallace, D.C.3
Stepien, G.4
-
11
-
-
0025189805
-
Changes in the number of mitochondrial genomes during human development
-
Heerdt B.G., Augenlicht L.H. Changes in the number of mitochondrial genomes during human development. Exp. Cell Res. 186:1990;54-59.
-
(1990)
Exp. Cell Res.
, vol.186
, pp. 54-59
-
-
Heerdt, B.G.1
Augenlicht, L.H.2
-
12
-
-
0027954048
-
Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery
-
Hirschhorn R., Yang D.R., Israni A., Huie M.L., Ownby D.R. Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery. Am. J. Hum. Genetics. 55:1994;59-68.
-
(1994)
Am. J. Hum. Genetics
, vol.55
, pp. 59-68
-
-
Hirschhorn, R.1
Yang, D.R.2
Israni, A.3
Huie, M.L.4
Ownby, D.R.5
-
13
-
-
0030975365
-
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion
-
Jonkman M.F., Scheffer H., Stulp R., et al. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell. 88:1997;543-551.
-
(1997)
Cell
, vol.88
, pp. 543-551
-
-
Jonkman, M.F.1
Scheffer, H.2
Stulp, R.3
-
14
-
-
0031873501
-
MtDNA depletion and impairment of mitochondrial function in a case of a multisystem disorder including severe myopathy
-
Kirches E.J., Winkler K., Warich-Kirches M., et al. mtDNA depletion and impairment of mitochondrial function in a case of a multisystem disorder including severe myopathy. J. Inherited Metab. Disord. 21:1998;400-408.
-
(1998)
J. Inherited Metab. Disord.
, vol.21
, pp. 400-408
-
-
Kirches, E.J.1
Winkler, K.2
Warich-Kirches, M.3
-
15
-
-
0029980584
-
Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia
-
Maaswinkel-Mooij P.D., Van den Bogert C., Scholte H.R., Onkenhout W., Brederoo P., Poorthuis B.J. Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia. J. Pediatr. 128:1996;679-683.
-
(1996)
J. Pediatr.
, vol.128
, pp. 679-683
-
-
Maaswinkel-Mooij, P.D.1
Van Den Bogert, C.2
Scholte, H.R.3
Onkenhout, W.4
Brederoo, P.5
Poorthuis, B.J.6
-
16
-
-
0029934637
-
Mitochondrial DNA depletion: Prevalence in a pediatric population referred for neurologic evaluation
-
Macmillan C.J., Shoubridge E.A. Mitochondrial DNA depletion: prevalence in a pediatric population referred for neurologic evaluation. Pediatr. Neurol. 14:1996;203-210.
-
(1996)
Pediatr. Neurol.
, vol.14
, pp. 203-210
-
-
MacMillan, C.J.1
Shoubridge, E.A.2
-
17
-
-
0029086201
-
Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: A morphological, biochemical and molecular-genetic study
-
Mariotti C., Uziel G., Carrara F., et al. Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study. J. Neurol. 242:1995;547-556.
-
(1995)
J. Neurol.
, vol.242
, pp. 547-556
-
-
Mariotti, C.1
Uziel, G.2
Carrara, F.3
-
18
-
-
0026480006
-
Fatal infantile liver failure associated with mitochondrial DNA depletion
-
Mazziotta M.R., Ricci E., Bertini E., et al. Fatal infantile liver failure associated with mitochondrial DNA depletion. J. Pediatr. 121:1992;896-901.
-
(1992)
J. Pediatr.
, vol.121
, pp. 896-901
-
-
Mazziotta, M.R.1
Ricci, E.2
Bertini, E.3
-
19
-
-
0026015896
-
MtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases
-
Moraes C.T., Shanske S., Tritschler H.J., et al. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am. J. Hum. Genetics. 48:1991;492-501.
-
(1991)
Am. J. Hum. Genetics
, vol.48
, pp. 492-501
-
-
Moraes, C.T.1
Shanske, S.2
Tritschler, H.J.3
-
20
-
-
0031971261
-
Liver failure associated with mitochondrial DNA depletion
-
Morris A.A., Taanman J.W., Blake J., et al. Liver failure associated with mitochondrial DNA depletion. J. Hepatol. 28:1998;556-563.
-
(1998)
J. Hepatol.
, vol.28
, pp. 556-563
-
-
Morris, A.A.1
Taanman, J.W.2
Blake, J.3
-
21
-
-
0032900339
-
Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome
-
Naviaux R.K., Nyhan W.L., Barshop B.A., et al. Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome. Ann. Neurol. 45:1999;54-58.
-
(1999)
Ann. Neurol.
, vol.45
, pp. 54-58
-
-
Naviaux, R.K.1
Nyhan, W.L.2
Barshop, B.A.3
-
22
-
-
0029014262
-
Early-onset fatal encephalomyopathy associated with severe mtDNA depletion
-
Paquis-Flucklinger V., Pellissier J.F., Camboulives J., et al. Early-onset fatal encephalomyopathy associated with severe mtDNA depletion. Eur. J. Pediatr. 154:1995;557-562.
-
(1995)
Eur. J. Pediatr.
, vol.154
, pp. 557-562
-
-
Paquis-Flucklinger, V.1
Pellissier, J.F.2
Camboulives, J.3
-
23
-
-
0017841405
-
Tumor mitochondria and the bioenergetics of cancer cells
-
Pedersen P.L. Tumor mitochondria and the bioenergetics of cancer cells. Prog. Exp. Tumor Res. 22:1978;190-274.
-
(1978)
Prog. Exp. Tumor Res.
, vol.22
, pp. 190-274
-
-
Pedersen, P.L.1
-
24
-
-
0028029271
-
Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion
-
Poulton J., Morten K., Freeman-Emmerson C., et al. Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion. Hum. Mol. Genetics. 3:1994;1763-1769.
-
(1994)
Hum. Mol. Genetics
, vol.3
, pp. 1763-1769
-
-
Poulton, J.1
Morten, K.2
Freeman-Emmerson, C.3
-
25
-
-
0028930787
-
Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome
-
Poulton J., Sewry C., Potter C.G., et al. Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome. J. Inherited Metab. Disord. 18:1995;4-20.
-
(1995)
J. Inherited Metab. Disord.
, vol.18
, pp. 4-20
-
-
Poulton, J.1
Sewry, C.2
Potter, C.G.3
-
26
-
-
0026718789
-
Differential expression of adenine nucleotide translocator isoforms in mammalian tissues and during muscle cell differentiation
-
Stepien G., Torroni A., Chung A.B., Hodge J.A., Wallace D.C. Differential expression of adenine nucleotide translocator isoforms in mammalian tissues and during muscle cell differentiation. J. Biol. Chem. 267:1992;14592-14597.
-
(1992)
J. Biol. Chem.
, vol.267
, pp. 14592-14597
-
-
Stepien, G.1
Torroni, A.2
Chung, A.B.3
Hodge, J.A.4
Wallace, D.C.5
-
27
-
-
0030927245
-
Molecular mechanisms in mitochondrial DNA depletion syndrome
-
Taanman J.W., Bodnar A.G., Cooper J.M., et al. Molecular mechanisms in mitochondrial DNA depletion syndrome. Hum. Mol. Genetics. 6:1997;935-942.
-
(1997)
Hum. Mol. Genetics
, vol.6
, pp. 935-942
-
-
Taanman, J.W.1
Bodnar, A.G.2
Cooper, J.M.3
-
28
-
-
0026704872
-
Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts
-
Telerman-Toppet N., Biarent D., Bouton J.M., et al. Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts. J. Inherited Metab. Disord. 15:1992;323-326.
-
(1992)
J. Inherited Metab. Disord.
, vol.15
, pp. 323-326
-
-
Telerman-Toppet, N.1
Biarent, D.2
Bouton, J.M.3
-
29
-
-
0022397904
-
Cloning and sequencing of a human 18S ribosomal RNA gene
-
Torczynski R.M., Fuke M., Bollon A.P. Cloning and sequencing of a human 18S ribosomal RNA gene. DNA. 4:1985;283-291.
-
(1985)
DNA
, vol.4
, pp. 283-291
-
-
Torczynski, R.M.1
Fuke, M.2
Bollon, A.P.3
-
30
-
-
0026541124
-
Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA
-
Tritschler H.J., Andreetta F., Moraes C.T., et al. Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology. 42:1992;209-217.
-
(1992)
Neurology
, vol.42
, pp. 209-217
-
-
Tritschler, H.J.1
Andreetta, F.2
Moraes, C.T.3
-
31
-
-
0031747955
-
Clinical manifestations of mitochondrial DNA depletion
-
Vu T.H., Sciacco M., Tanji K., et al. Clinical manifestations of mitochondrial DNA depletion. Neurology. 50:1998;1783-1790.
-
(1998)
Neurology
, vol.50
, pp. 1783-1790
-
-
Vu, T.H.1
Sciacco, M.2
Tanji, K.3
-
32
-
-
0031665069
-
Mitochondrial DNA depletion in a patient with long survival
-
Vu T.H., Tanji K., Valsamis H., DiMauro S., Bonilla E. Mitochondrial DNA depletion in a patient with long survival. Neurology. 51:1998;1190-1193.
-
(1998)
Neurology
, vol.51
, pp. 1190-1193
-
-
Vu, T.H.1
Tanji, K.2
Valsamis, H.3
Dimauro, S.4
Bonilla, E.5
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