Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression.

Autor: Fanny Mochel, Perrine Charles, François Seguin, Julie Barritault, Christiane Coussieu, Laurence Perin, Yves Le Bouc, Christiane Gervais, Guislaine Carcelain, Anne Vassault, Josué Feingold, Daniel Rabier, Alexandra Durr

Publikováno v: PLoS ONE, Vol 2, Iss 7, p e647 (2007)

Huntington disease (HD) is a fatal neurodegenerative disorder, with no effective treatment. The pathogenic mechanisms underlying HD has not been elucidated, but weight loss, associated with chorea and cognitive decline, is a characteristic feature of

Externí odkaz: https://doaj.org/article/4a446a7ac0c542b48beeeffd9459f875

Dihydrolipoamide dehydrogenase deficiency: A still overlooked cause of recurrent acute liver failure and Reye-like syndrome

Autor: J.-P. Cervoni, Laurence Hubert, Daniel Rabier, Audrey Boutron, Florence Lacaille, Séverine Valmary-Degano, Pascale de Lonlay, Chris Ottolenghi, Vincent Di Martino, Jean-Baptiste Arnoux, Anaïs Brassier, Yves de Keyzer, Dominique Chretien, Anne-Marie Bertrand

Publikováno v: Molecular Genetics and Metabolism. 109:28-32

The causes of Reye-like syndrome are not completely understood. Dihydrolipoamide dehydrogenase (DLD or E3) deficiency is a rare metabolic disorder causing neurological or liver impairment. Specific changes in the levels of urinary and plasma metaboli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcdedfddb56242e78d2f59d3e1e92a38
https://doi.org/10.1016/j.ymgme.2013.01.017

Amino Acids

Autor: Daniel Rabier

Amino acids present in the different biological fluids belong to two groups: the protein group, with the 21 classical amino acids constituting the backbone of the protein, and the nonprotein group, appearing in different metabolic pathways as interme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bd19435654c7d1e95dbba4b1cb599cce
https://doi.org/10.1093/med/9780199972135.003.0083

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency

Autor: T. Billette de Villemeur, Odile Rigal, François Feillet, Arnold Munnich, Delphine Lamireau, Nathalie Guffon, Michèle Brivet, P. de Lonlay, Aline Cano, Daniel Rabier, J. M. Saudubray, H. Ogier de Baulny, François Labarthe, Cécile Acquaviva, Dries Dobbelaere, A. Boutron, Christine Vianey-Saban

Publikováno v: Molecular Genetics and Metabolism. 103:341-348

Background Deficiency of mitochondrial trifunctional protein (MTP) is caused by mutations in the HADHA and HADHB genes, which have been mostly delineated at the genomic DNA level and have not been always elucidated. Aim To identify mutations in a Fre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4da71f6f994760fa225dcea19bfffb1e
https://doi.org/10.1016/j.ymgme.2011.04.006

Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease

Autor: Daniel Rabier, Agnès Barles, Lawrence Sweetman, Janette Holm, Cecilia Marelli, Alexandra Durr, Jean François Benoist, Pierre G. Carlier, C Jauffret, Sandrine Duteil, Fanny Mochel

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, 2010, 18 (9), pp.1057-60. ⟨10.1038/ejhg.2010.72⟩
European Journal of Human Genetics, Nature Publishing Group, 2010, 18 (9), pp.1057-60. 〈10.1038/ejhg.2010.72〉
European Journal of Human Genetics, Nature Publishing Group, 2010, 18 (9), pp.1057-60. ⟨10.1038/ejhg.2010.72⟩

International audience; Background: We previously identified a systemic metabolic defect associated with early weight loss in patients with Huntington disease (HD) suggesting a lack of substrates for the Krebs cycle. Dietary anaplerotic therapy with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59e94e765c11df353938e9c16e2ea45d
https://doi.org/10.1038/ejhg.2010.72