Zobrazeno 1 - 10
of 23
pro vyhledávání: '"France Demaugre"'
Autor:
France Demaugre, Yannick Philippe, Sokavuth Sar, Bernard Pileire, Laurence Christa, Chantal Lasserre, Christian Brechot
Publikováno v:
European Journal of Biochemistry. 271:3812-3820
HIP/PAP is a C-type lectin overexpressed in hepatocellular carcinoma (HCC). Pleiotropic biological activities have been ascribed to this protein, but little is known about the function of HIP/PAP in the liver. In this study, therefore, we searched fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2fd2f963fdf581f6c73edb1d45a20f2d
https://doi.org/10.1111/j.1432-1033.2004.04302.x
https://doi.org/10.1111/j.1432-1033.2004.04302.x
Autor:
Stéphanie Gobin, Jean-Paul Bonnefont, Carina Prip-Buus, Claude Mugnier, Magali Ferrec, France Demaugre, Jean-Marie Saudubray, Hidayeth Rostane, Fatima Djouadi, William Wilcox, Stephen Cederbaum, Richard Haas, William L. Nyhan, Anne Green, George Gray, Jean Girard, Laure Thuillier
Publikováno v:
Human Genetics. 111:179-189
Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid oxidation. CPT1 controls the import of long-chain fatty acids into the mitochondria, where they are oxidized. Two CPT1 isoforms, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::742041a566b3fcaf83b9e49a957a4315
https://doi.org/10.1007/s00439-002-0752-0
https://doi.org/10.1007/s00439-002-0752-0
Autor:
Carina Prip-Buus, Laure Thuillier, Nourredine Abadi, Chitra Prasad, Louise Dilling, Juliet Klasing, France Demaugre, Cheryl R. Greenberg, James C. Haworth, Véronique Droin, Noman Kadhom, Stéphanie Gobin, Pierre Kamoun, Jean Girard, Jean-Paul Bonnefont
Publikováno v:
Molecular Genetics and Metabolism. 73:46-54
Hepatic carnitine palmitoyltransferase 1 (CPT1A) deficiency is a rare disorder of mitochondrial fatty acid oxidation inherited as an autosomal recessive trait. Symptomatology comprises attacks of hypoketotic hypoglycemia with risk of sudden death or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e520e78d64ebc75c1148a68621e4510b
https://doi.org/10.1006/mgme.2001.3176
https://doi.org/10.1006/mgme.2001.3176
Autor:
Abdelmajid Sabile, Gabriel Perlemuter, Fulvia Bono, Kyoko Kohara, France Demaugre, Michinori Kohara, Yoshiharu Matsuura, Tatsuo Miyamura, Christian Bréchot, Giovanna Barba
Publikováno v:
Hepatology. 30:1064-1076
Several lines of evidence suggest that hepatitis C virus (HCV) core protein may modulate cellular transduction signals and alter lipid metabolism. We have investigated the binding of HCV core protein to cellular proteins by combining 2 yeast hybrid,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f1b45c582e4426d8e365d06d6b673679
https://doi.org/10.1002/hep.510300429
https://doi.org/10.1002/hep.510300429
Autor:
Bing-Zhi Yang, Jia-Huan Ding, Tracy Dewese, Diane Roe, Guocheng He, Jeff Wilkinson, Donald W. Day, France Demaugre, Daniel Rabier, Michele Brivet, Charles Roe
Publikováno v:
Molecular Genetics and Metabolism. 64:229-236
Carnitine palmitoyltransferase II (CPT II) deficiency, an autosomal recessive disorder of fatty-acid oxidation, presents as three distinct phenotypes (neonatal, infantile, and adult onset). In order to investigate the molecular basis of these three p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b106e6ec38e0b1fe3c57abe907c8f33
https://doi.org/10.1006/mgme.1998.2711
https://doi.org/10.1006/mgme.1998.2711
Autor:
James C. Haworth, France Demaugre, Frances A. Booth, Louise A. Dilling, Stanley P. Moroz, Shashikant S. Seshia, Lorne E. Seargeant, Paul M. Coates
Publikováno v:
The Journal of Pediatrics. 121:553-557
We describe hepatic carnitine palmitoyltransferase (CPT I) deficiency in three children (a brother and sister and their second cousin) from an extended inbred Hutterite kindred. The patients were first seen between 8 and 18 months of age with recurre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfcce82bd55f329752829cce4d95cd5c
https://doi.org/10.1016/s0022-3476(05)81143-6
https://doi.org/10.1016/s0022-3476(05)81143-6
Autor:
France Demaugre, Jean-Paul Bonnefont, Claude Cepanec, Jasper Scholte, Jean-Marie Saudubray, Jean-Paul Leroux
Publikováno v:
Pediatric Research. 27:497-500
Carnitine palmitoyltransferase deficiency realizes two distinct clinical forms. We previously showed and confirmed in the present work that CPTII (identified as the carnitine palmitoyltransferase activity assayable in detergent conditions) is decreas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab0f745984af54c237c712f1a5546b1e
https://doi.org/10.1203/00006450-199005000-00016
https://doi.org/10.1203/00006450-199005000-00016
Autor:
France, Demaugre, Yannick, Philippe, Sokavuth, Sar, Bernard, Pileire, Laurence, Christa, Chantal, Lasserre, Christian, Brechot
Publikováno v:
European journal of biochemistry. 271(19)
HIP/PAP is a C-type lectin overexpressed in hepatocellular carcinoma (HCC). Pleiotropic biological activities have been ascribed to this protein, but little is known about the function of HIP/PAP in the liver. In this study, therefore, we searched fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a6c0a1224da94893e968fe1df67551f8
https://pubmed.ncbi.nlm.nih.gov/15373827
https://pubmed.ncbi.nlm.nih.gov/15373827
Autor:
Laure Thuillier, Hidayeth Rostane, Veronique Droin, France Demaugre, Michèle Brivet, Noman Kadhom, Carina Prip-Buus, Stéphanie Gobin, Jean-Marie Saudubray, Jean-Paul Bonnefont
Publikováno v:
Human mutation. 21(5)
Carnitine palmitoyltransferase 2 (CPT2) deficiency, the most common inherited disease of the mitochondrial long-chain fatty acid (LCFA) oxidation, may result in distinct clinical phenotypes, namely a mild adult muscular form and a severe hepatocardio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c2490162a268461ae90ab64c652e80f
https://pubmed.ncbi.nlm.nih.gov/12673791
https://pubmed.ncbi.nlm.nih.gov/12673791
Autor:
Orly N. Elpeleg, Adina Joseph, David Branski, Ernst Christensen, Elisabeth Holme, France Demaugre, Jean-Marie Saudubray, Alisa Gutman
Publikováno v:
The Journal of Pediatrics. 122:917-919
A 3-year-old boy had recurrent episodes of lethargy, encephalopathy, and hepatomegaly accompanied by hypoglycemia, elevated liver aminotransferase and creatine kinase values, and nonketotic dicarboxylic aciduria; the serum carnitine level was moderat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf2c50348dff531717d5f68b551ce1c5
https://doi.org/10.1016/s0022-3476(09)90019-1
https://doi.org/10.1016/s0022-3476(09)90019-1