New spastic paraplegia phenotype associated to mutation of NFU1

Por Tonduti, Davide, Dorboz, Imen, Imbard, Apolline, Slama, Abdelhamid, Boutron, Audrey, Pichard, Samia, Elmaleh, Monique, Vallée, Louis, Benoist, Jean François, Ogier, Heléne, Boespflug-Tanguy, Odile
Publicado no Orphanet J Rare Dis (2015)

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects

Por Ferriero, Rosa, Boutron, Audrey, Brivet, Michele, Kerr, Douglas, Morava, Eva, Rodenburg, Richard J, Bonafé, Luisa, Baumgartner, Matthias R, Anikster, Yair, Braverman, Nancy E, Brunetti-Pierri, Nicola
Publicado em 2014

A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency

Por Fontaine, Monique, Dessein, Anne-Frédérique, Douillard, Claire, Dobbelaere, Dries, Brivet, Michèle, Boutron, Audrey, Zater, Mokhtar, Mention-Mulliez, Karine, Martin-Ponthieu, Annie, Vianey-Saban, Christine, Briand, Gilbert, Porchet, Nicole, Vamecq, Joseph
Publicado em 2012

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

Por Schiff, Manuel, Veauville-Merllié, Alice, Su, Chen Hsien, Tzagoloff, Alexander, Rak, Malgorzata, de Baulny, Hélène Ogier, Boutron, Audrey, Smedts-Walters, Hélène, Romero, Norma B., Rigal, Odile, Rustin, Pierre, Vianey-Saban, Christine, Acquaviva-Bourdain, Cécile
Publicado no N Engl J Med (2016)

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Por Soreze, Yohan, Boutron, Audrey, Habarou, Florence, Barnerias, Christine, Nonnenmacher, Luc, Delpech, Hélène, Mamoune, Asmaa, Chrétien, Dominique, Hubert, Laurence, Bole-Feysot, Christine, Nitschke, Patrick, Correia, Isabelle, Sardet, Claude, Boddaert, Nathalie, Hamel, Yamina, Delahodde, Agnès, Ottolenghi, Chris, de Lonlay, Pascale
Publicado em 2013

E4F1 controls a transcriptional program essential for pyruvate dehydrogenase activity

Por Lacroix, Matthieu, Rodier, Geneviève, Kirsh, Olivier, Houles, Thibault, Delpech, Hélène, Seyran, Berfin, Gayte, Laurie, Casas, Francois, Pessemesse, Laurence, Heuillet, Maud, Bellvert, Floriant, Portais, Jean-Charles, Berthet, Charlene, Bernex, Florence, Brivet, Michele, Boutron, Audrey, Le Cam, Laurent, Sardet, Claude
Publicado no Proc Natl Acad Sci U S A (2016)

A Mitochondrial Pyruvate Carrier Required for Pyruvate Uptake in Yeast, Drosophila, and Humans

Por Bricker, Daniel K., Taylor, Eric B., Schell, John C., Orsak, Thomas, Boutron, Audrey, Chen, Yu-Chan, Cox, James E., Cardon, Caleb M., Van Vranken, Jonathan G., Dephoure, Noah, Redin, Claire, Boudina, Sihem, Gygi, Steven P., Brivet, Michèle, Thummel, Carl S., Rutter, Jared
Publicado em 2012