Zobrazeno 1 - 10
of 278
pro vyhledávání: '"C. Marsac"'
Akademický článek
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Autor:
Manuèle Miné, P. de Lonlay, C. Marsac, Christine Barnerias, Michèle Brivet, J.-M. Saudubray, A. Boutron, A. Imbard, C. Vequaud, H. Ogier de Baulny, Mokhtar Zater
Publikováno v:
Molecular Genetics and Metabolism. 104:507-516
Background Pyruvate dehydrogenase complex (PDHc) deficiencies are an important cause of primary lactic acidosis. Most cases result from mutations in the X-linked gene for the pyruvate dehydrogenase E1α subunit ( PDHA1 ) while a few cases result from
Autor:
Maurice Menasche, Dominique Marchant, Daniel F. Schorderet, K. Sainton, P. Dureau, Jean-Louis Dufier, G. Brasseur, V. Puech, Marc Abitbol, C. Sternberg, J.C. Hache, Karïn Gogat, V. Dumur, S. Gadin, Hélène Dollfus, Francis L. Munier, C. Marsac
Publikováno v:
Ophthalmic Genetics. 23:167-174
We identified three novel VMD2 mutations in patients with Best's macular dystrophy. DHPLC analysis of the 11 VMD2 exons revealed abnormal profiles in exon 8. Direct sequencing showed that these abnormal profiles were due to monoallelic transitions an
Autor:
Mojgan Djavaheri-Mergny, Laurence Michel, Jean-Claude Mazière, C. Marsac, Louis Dubertret, C. Mazière, René Santus
Publikováno v:
Free Radical Research. 34:583-594
UV-A irradiation caused a dose-dependent decrease in cellular oxygen consumption (56%) and ATP content (65%) in human NCTC 2544 keratinocytes, one hour after treatment. This effect was partially reversed by maintaining the irradiated cells in normal
Akademický článek
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Autor:
Eleanor C. Marsac
Publikováno v:
Elephant. 2:108-111
Autor:
J Scholte, L. De Meirleir, Sara Seneca, Ingeborg Liebaers, C Benelli, J De Klerk, C Marsac, O. P. van Diggelen, Willy Lissens, W. J. Kleijer
Publikováno v:
Vrije Universiteit Brussel
Journal of Inherited Metabolic Disease, 21, 9-16. Springer Netherlands
Journal of Inherited Metabolic Disease, 21, 9-16. Springer Netherlands
The pyruvate dehydrogenase complex (PDHc) is a multienzyme complex consisting of three catalytic and two regulatory enzymes, as well as a less well defined subunit called protein X. PDHc deficiency is a common cause of congenital lactic acidosis. Mos
Mitochondria are selective targets for the protective effects of heat shock against oxidative injury
Autor:
D François, Claudio Franceschi, S. Kantengwa, Stefano Salvioli, C Marsac, Andrea Cossarizza, Barbara S. Polla
Publikováno v:
Proceedings of the National Academy of Sciences. 93:6458-6463
Heat shock (HS) proteins (HSPs) induce protection against a number of stresses distinct from HS, including reactive oxygen species. In the human premonocytic line U937, we investigated in whole cells the effects of preexposure to HS and exposure to h
Autor:
V. GEOFFROY, F. FOUQUE, C. BENELLI, F. POGGI, J. M. SAUDUBRAY, W. LISSENS, L. D. MEIRLEIR, C. MARSAC, J. G. LINDSAY, S. J. SANDERSON
Publikováno v:
Pediatrics. 97:267-272
Studies of human pyruvate dehydrogenase (PDH) deficiency have shown that defects in the E1 component are not common, with only a small number of defects associated specifically with the E3, E2, and component X subunits. We report here clinical, enzym
Publikováno v:
Journal of inherited metabolic disease. 25(4)
We identified a new Y243S mutation in the X-linked E1 alpha-PDH gene in a patient with pyruvate dehydrogenase complex (PDHc) deficiency. The activity in cultured fibroblasts was very low even in the presence of high thiamine pyrophosphate (TPP) conce