-
1
-
-
0029587469
-
Molecular genetic aspects of human mitochondrial disorders
-
Larsson, N.G. and Clayton, D.A. (1995) Molecular genetic aspects of human mitochondrial disorders. Annu. Rev. Genet., 29, 151-178.
-
(1995)
Annu. Rev. Genet.
, vol.29
, pp. 151-178
-
-
Larsson, N.G.1
Clayton, D.A.2
-
2
-
-
0034951326
-
Clinical spectrum and diagnosis of mitochondrial disorders
-
Munnich, A. and Rustin, P. (2001) Clinical spectrum and diagnosis of mitochondrial disorders. Am. J. Med. Genet., 106, 4-17.
-
(2001)
Am. J. Med. Genet.
, vol.106
, pp. 4-17
-
-
Munnich, A.1
Rustin, P.2
-
3
-
-
0029159804
-
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
-
Bourgeron, T., Rustin, P., Chretien, D., Birch-Machin, M., Bourgeois, M., Viegas-Pequignot, E., Munnich, A. and Rotig, A. (1995) Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat. Genet., 11, 144-149.
-
(1995)
Nat. Genet.
, vol.11
, pp. 144-149
-
-
Bourgeron, T.1
Rustin, P.2
Chretien, D.3
Birch-Machin, M.4
Bourgeois, M.5
Viegas-Pequignot, E.6
Munnich, A.7
Rotig, A.8
-
4
-
-
0034602950
-
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
-
Baysal, B.E., Ferrell, R.E., Willett-Brozick, J.E., Lawrence, E.C., Myssiorek, D., Bosch, A., van der Mey, A., Taschner, P.E., Rubinstein, W.S., Myers, E.N. et al. (2000) Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science, 287, 848-851.
-
(2000)
Science
, vol.287
, pp. 848-851
-
-
Baysal, B.E.1
Ferrell, R.E.2
Willett-Brozick, J.E.3
Lawrence, E.C.4
Myssiorek, D.5
Bosch, A.6
van der Mey, A.7
Taschner, P.E.8
Rubinstein, W.S.9
Myers, E.N.10
-
5
-
-
0344305801
-
On the association of succinate dehydrogenase mutations with hereditary paraganglioma
-
Baysal, B.E. (2003) On the association of succinate dehydrogenase mutations with hereditary paraganglioma. Trends Endocrinol. Metab., 14, 453-459.
-
(2003)
Trends Endocrinol. Metab.
, vol.14
, pp. 453-459
-
-
Baysal, B.E.1
-
6
-
-
4944229705
-
Schedule-dependent inhibition of hypoxia-inducible factor-1alpha protein accumulation, angiogenesis, and tumor growth by topotecan in U251-HRE glioblastoma xenografts
-
Rapisarda, A., Zalek, J., Hollingshead, M., Braunschweig, T., Uranchimeg, B., Bonomi, C.A., Borgel, S.D., Carter, J.P., Hewitt, S.M., Shoemaker, R.H. et al. (2004) Schedule-dependent inhibition of hypoxia-inducible factor-1alpha protein accumulation, angiogenesis, and tumor growth by topotecan in U251-HRE glioblastoma xenografts. Cancer Res., 64, 6845-6848.
-
(2004)
Cancer Res.
, vol.64
, pp. 6845-6848
-
-
Rapisarda, A.1
Zalek, J.2
Hollingshead, M.3
Braunschweig, T.4
Uranchimeg, B.5
Bonomi, C.A.6
Borgel, S.D.7
Carter, J.P.8
Hewitt, S.M.9
Shoemaker, R.H.10
-
7
-
-
0035932375
-
A variant of nuclear localization signal of bipartite-type is required for the nuclear translocation of hypoxia inducible factors (1alpha, 2alpha and 3alpha)
-
Luo, J.C. and Shibuya, M. (2001) A variant of nuclear localization signal of bipartite-type is required for the nuclear translocation of hypoxia inducible factors (1alpha, 2alpha and 3alpha). Oncogene, 20, 1435-1444.
-
(2001)
Oncogene
, vol.20
, pp. 1435-1444
-
-
Luo, J.C.1
Shibuya, M.2
-
8
-
-
0035213138
-
The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway
-
Gimenez-Roqueplo, A.P., Favier, J., Rustin, P., Mourad, J.J., Plouin, P.F., Corvol, P., Rotig, A. and Jeunemaitre, X. (2001) The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. Am. J. Hum. Genet., 69, 1186-1197.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 1186-1197
-
-
Gimenez-Roqueplo, A.P.1
Favier, J.2
Rustin, P.3
Mourad, J.J.4
Plouin, P.F.5
Corvol, P.6
Rotig, A.7
Jeunemaitre, X.8
-
9
-
-
19944433653
-
Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase
-
Selak M.A., Armour, S.M., MacKenzie, E.D., Boulahbel, H., Watson, D.G., Mansfield, K.D., Pan, Y., Simon, M.C., Thompson, C.B. and Gottlieb, E. (2005) Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase. Cancer Cell, 7, 77-85.
-
(2005)
Cancer Cell
, vol.7
, pp. 77-85
-
-
Selak, M.A.1
Armour, S.M.2
MacKenzie, E.D.3
Boulahbel, H.4
Watson, D.G.5
Mansfield, K.D.6
Pan, Y.7
Simon, M.C.8
Thompson, C.B.9
Gottlieb, E.10
-
10
-
-
26444570010
-
Accumulation of Krebs cycle intermediates and over-expression of HIF1{alpha} in tumours which result from germline FH and SDH mutations
-
Pollard, P.J., Briere, J.J., Alam, N.A., Barwell, J., Barclay, E., Wortham, N.C., Hunt, T., Mitchell, M., Olpin, S., Moat, S.J. et al. (2005) Accumulation of Krebs cycle intermediates and over-expression of HIF1{alpha} in tumours which result from germline FH and SDH mutations. Hum. Mol. Genet., 14,2231-2239.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 2231-2239
-
-
Pollard, P.J.1
Briere, J.J.2
Alam, N.A.3
Barwell, J.4
Barclay, E.5
Wortham, N.C.6
Hunt, T.7
Mitchell, M.8
Olpin, S.9
Moat, S.J.10
-
11
-
-
17944375360
-
C. elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation
-
Epstein, A.C., Gleadle, J.M., McNeill, L.A., Hewitson, K.S., O'Rourke, J., Mole, D.R., Mukherji, M., Metzen, E., Wilson, M.I., Dhanda, A. et al. (2001) C. elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation. Cell, 107,43-54.
-
(2001)
Cell
, vol.107
, pp. 43-54
-
-
Epstein, A.C.1
Gleadle, J.M.2
McNeill, L.A.3
Hewitson, K.S.4
O'Rourke, J.5
Mole, D.R.6
Mukherji, M.7
Metzen, E.8
Wilson, M.I.9
Dhanda, A.10
-
12
-
-
0035955663
-
Regulation of the hypoxia-inducible factor 1alpha by the inflammatory mediators nitric oxide and tumor necrosis factor-alpha in contrast to desferroxamine and phenylarsine oxide
-
Sandau, K.B., Zhou, J., Kietzmann, T. and Brune, B. (2001) Regulation of the hypoxia-inducible factor 1alpha by the inflammatory mediators nitric oxide and tumor necrosis factor-alpha in contrast to desferroxamine and phenylarsine oxide. J. Biol. Chem., 276, 39805-39811.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 39805-39811
-
-
Sandau, K.B.1
Zhou, J.2
Kietzmann, T.3
Brune, B.4
-
13
-
-
0035812772
-
HIF-1, O(2), and the 3 PHDs: How animal cells signal hypoxia to the nucleus
-
Semenza, G.L. (2001) HIF-1, O(2), and the 3 PHDs: How animal cells signal hypoxia to the nucleus. Cell, 107, 1-3.
-
(2001)
Cell
, vol.107
, pp. 1-3
-
-
Semenza, G.L.1
-
14
-
-
4644260710
-
Depletion of intracellular ascorbate by the carcinogenic metals nickel and cobalt results in the induction of hypoxic stress
-
Salnikow, K., Donald, S.P., Bruick, R.K., Zhitkovich, A., Phang, J.M. and Kasprzak, K.S. (2004) Depletion of intracellular ascorbate by the carcinogenic metals nickel and cobalt results in the induction of hypoxic stress. J. Biol. Chem., 279, 40337-40344.
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 40337-40344
-
-
Salnikow, K.1
Donald, S.P.2
Bruick, R.K.3
Zhitkovich, A.4
Phang, J.M.5
Kasprzak, K.S.6
-
15
-
-
12444333574
-
KGF-induced motility of breast cancer cells is dependent on Grb2 and Erk1,2
-
Zang, X.P., Siwak, D.R., Nguyen, T.X., Tari, A.M. and Pento, J.T. (2004) KGF-induced motility of breast cancer cells is dependent on Grb2 and Erk1,2. Clin. Exp. Metastasis, 21, 437-443.
-
(2004)
Clin. Exp. Metastasis
, vol.21
, pp. 437-443
-
-
Zang, X.P.1
Siwak, D.R.2
Nguyen, T.X.3
Tari, A.M.4
Pento, J.T.5
-
16
-
-
9644276918
-
Respiratory chain defects: What do we know for sure about their consequences in vivo?
-
Briere, J.J., Chretien, D., Benit, P. and Rustin, P. (2004) Respiratory chain defects: What do we know for sure about their consequences in vivo? Biochim. Biophys. Acta, 1659, 172-177.
-
(2004)
Biochim. Biophys. Acta
, vol.1659
, pp. 172-177
-
-
Briere, J.J.1
Chretien, D.2
Benit, P.3
Rustin, P.4
-
17
-
-
0242493177
-
Direct evidence for expression of type II flavoprotein subunit in human complex II (succinate-ubiquinone reductase)
-
Tomitsuka, E., Goto, Y., Taniwaki, M. and Kita, K. (2003) Direct evidence for expression of type II flavoprotein subunit in human complex II (succinate-ubiquinone reductase). Biochem. Biophys. Res. Commun., 311, 774-779.
-
(2003)
Biochem. Biophys. Res. Commun.
, vol.311
, pp. 774-779
-
-
Tomitsuka, E.1
Goto, Y.2
Taniwaki, M.3
Kita, K.4
-
18
-
-
2042546096
-
Balancing acts: Molecular control of mammalian iron metabolism
-
Hentze, M.W., Muckenthaler, M.U. and Andrews, N.C. (2004) Balancing acts: Molecular control of mammalian iron metabolism. Cell, 117, 285-297.
-
(2004)
Cell
, vol.117
, pp. 285-297
-
-
Hentze, M.W.1
Muckenthaler, M.U.2
Andrews, N.C.3
-
19
-
-
0033767445
-
Mutations in SDHC cause autosomal dominant paraganglioma, type 3
-
Niemann, S. and Muller, U. (2000) Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat. Genet., 26, 268-270.
-
(2000)
Nat. Genet.
, vol.26
, pp. 268-270
-
-
Niemann, S.1
Muller, U.2
-
20
-
-
0032514466
-
A mutation in succinate dehydrogenase cytochrome b causes oxidative stress and ageing in nematodes
-
Ishii, N., Fujii, M., Hartman, P.S., Tsuda, M., Yasuda, K., Senoo-Matsuda, N., Yanase, S., Ayusawa, D. and Suzuki, K. (1998) A mutation in succinate dehydrogenase cytochrome b causes oxidative stress and ageing in nematodes. Nature, 394, 694-697.
-
(1998)
Nature
, vol.394
, pp. 694-697
-
-
Ishii, N.1
Fujii, M.2
Hartman, P.S.3
Tsuda, M.4
Yasuda, K.5
Senoo-Matsuda, N.6
Yanase, S.7
Ayusawa, D.8
Suzuki, K.9
-
21
-
-
0027467912
-
Oxygen-dependent perturbation of life span and aging rate in the nematode
-
Honda, S., Ishii, N., Suzuki, K. and Matsuo, M. (1993) Oxygen-dependent perturbation of life span and aging rate in the nematode. J. Gerontol., 48, B57-B61.
-
(1993)
J. Gerontol.
, vol.48
-
-
Honda, S.1
Ishii, N.2
Suzuki, K.3
Matsuo, M.4
-
22
-
-
0034964421
-
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma
-
Astuti, D., Latif, F., Dallol, A., Dahia, P.L., Douglas, F., George, E., Skoldberg, F., Husebye, E.S., Eng, C. and Maher, E.R. (2001) Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am. J. Hum. Genet., 69, 49-54.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 49-54
-
-
Astuti, D.1
Latif, F.2
Dallol, A.3
Dahia, P.L.4
Douglas, F.5
George, E.6
Skoldberg, F.7
Husebye, E.S.8
Eng, C.9
Maher, E.R.10
-
23
-
-
18544365990
-
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
-
Tomlinson, I.P., Alam, N.A., Rowan, A.J., Barclay, E., Jaeger, E.E., Kelsell, D., Leigh, I., Gorman, P., Lamlum, H., Rahman, S. et al. (2002) Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat. Genet., 30, 406-410.
-
(2002)
Nat. Genet.
, vol.30
, pp. 406-410
-
-
Tomlinson, I.P.1
Alam, N.A.2
Rowan, A.J.3
Barclay, E.4
Jaeger, E.E.5
Kelsell, D.6
Leigh, I.7
Gorman, P.8
Lamlum, H.9
Rahman, S.10
-
24
-
-
0036544745
-
Mitochondria, from cell death to proliferation
-
Rustin, P. (2002) Mitochondria, from cell death to proliferation. Nat. Genet., 30, 352-353.
-
(2002)
Nat. Genet.
, vol.30
, pp. 352-353
-
-
Rustin, P.1
-
25
-
-
0036062729
-
Succinate dehydrogenase and human diseases: New insights into a well- known enzyme
-
Rustin, P., Munnich, A. and Rotig, A. (2002) Succinate dehydrogenase and human diseases: New insights into a well- known enzyme. Eur. J. Hum. Genet., 10, 289-291.
-
(2002)
Eur. J. Hum. Genet.
, vol.10
, pp. 289-291
-
-
Rustin, P.1
Munnich, A.2
Rotig, A.3
-
26
-
-
0038383678
-
Loss of pVHL is sufficient to cause HIF dysregulation in primary cells but does not promote tumor growth
-
Mack, F.A., Rathmell, W.K., Arsham, A.M., Gnarra, J., Keith, B. and Simon, M.C. (2003) Loss of pVHL is sufficient to cause HIF dysregulation in primary cells but does not promote tumor growth. Cancer Cell, 3, 75-88.
-
(2003)
Cancer Cell
, vol.3
, pp. 75-88
-
-
Mack, F.A.1
Rathmell, W.K.2
Arsham, A.M.3
Gnarra, J.4
Keith, B.5
Simon, M.C.6
-
27
-
-
22744447144
-
Identification of novel VHL target genes and relationship to hypoxic response pathways
-
Maina, E.N., Morris, M.R., Zatyka, M., Raval, R.R., Banks, R.E., Richards, F.M., Johnson, C.M. and Maher, E.R. (2005) Identification of novel VHL target genes and relationship to hypoxic response pathways. Oncogene, 24, 4549-4558.
-
(2005)
Oncogene
, vol.24
, pp. 4549-4558
-
-
Maina, E.N.1
Morris, M.R.2
Zatyka, M.3
Raval, R.R.4
Banks, R.E.5
Richards, F.M.6
Johnson, C.M.7
Maher, E.R.8
-
28
-
-
0038339194
-
Hepatocyte growth factor induces apoptosis through the extrinsic pathway in hepatoma cells: Favouring role of hypoxia-inducible factor-1 deficiency
-
Matteucci, E., Modora, S., Simone, M. and Desiderio, M.A. (2003) Hepatocyte growth factor induces apoptosis through the extrinsic pathway in hepatoma cells: Favouring role of hypoxia-inducible factor-1 deficiency. Oncogene, 22, 4062-4073.
-
(2003)
Oncogene
, vol.22
, pp. 4062-4073
-
-
Matteucci, E.1
Modora, S.2
Simone, M.3
Desiderio, M.A.4
-
29
-
-
0035872917
-
Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA
-
Geromel, V., Kadhom, N., Cebalos-Picot, I., Ouari, O., Polidori, A., Munnich, A., Rotig, A. and Rustin, P. (2001) Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA. Hum. Mol. Genet., 10, 1221-1228.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1221-1228
-
-
Geromel, V.1
Kadhom, N.2
Cebalos-Picot, I.3
Ouari, O.4
Polidori, A.5
Munnich, A.6
Rotig, A.7
Rustin, P.8
-
30
-
-
17844405577
-
Year of diagnosis, features at presentation, and risk of recurrence in patients with pheochromocytoma or secreting paraganglioma
-
Amar, L., Servais, A., Gimenez-Roqueplo, A.P., Zinzindohoue, F., Chatellier, G. and Plouin, P.F. (2005) Year of diagnosis, features at presentation, and risk of recurrence in patients with pheochromocytoma or secreting paraganglioma. J. Clin. Endocrinol. Metab., 90, 2110-2116.
-
(2005)
J. Clin. Endocrinol. Metab.
, vol.90
, pp. 2110-2116
-
-
Amar, L.1
Servais, A.2
Gimenez-Roqueplo, A.P.3
Zinzindohoue, F.4
Chatellier, G.5
Plouin, P.F.6
-
32
-
-
0027931039
-
Biochemical and molecular investigations in respiratory chain deficiencies
-
Rustin, P., Chretien, D., Bourgeron, T., Gerard, B., Rotig, A., Saudubray, J.M. and Munnich, A. (1994) Biochemical and molecular investigations in respiratory chain deficiencies. Clin. Chim. Acta, 228, 35-51.
-
(1994)
Clin. Chim. Acta
, vol.228
, pp. 35-51
-
-
Rustin, P.1
Chretien, D.2
Bourgeron, T.3
Gerard, B.4
Rotig, A.5
Saudubray, J.M.6
Munnich, A.7
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