Search Results - "Makaci, Fatna"

Mitochondrial Protein UCP2 Controls Pancreas Development by Broche, Benjamin, Ben Fradj, Selma, Aguilar, Esther, Sancerni, Tiphaine, Bénard, Matthieu, Makaci, Fatna, Berthault, Claire, Scharfmann, Raphaël, Alves-Guerra, Marie-Clotilde, Duvillié, Bertrand

“…The mitochondrial carrier uncoupling protein (UCP) 2 belongs to the family of the UCPs. Despite its name, it is now accepted that UCP2 is rather a metabolite…”
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Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome by Valayannopoulos, Vassili, Bakouh, Naziha, Mazzuca, Michel, Nonnenmacher, Luc, Hubert, Laurence, Makaci, Fatna-Léa, Chabli, Allel, Salomons, Gajja S., Mellot-Draznieks, Caroline, Brulé, Emilie, de Lonlay, Pascale, Toulhoat, Hervé, Munnich, Arnold, Planelles, Gabrielle, de Keyzer, Yves

“…Intellectual disability coupled with epilepsy are clinical hallmarks of the creatine (Cr) transporter deficiency syndrome resulting from mutations in the…”
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Homocysteine Metabolism Pathway Is Involved in the Control of Glucose Homeostasis: A Cystathionine Beta Synthase Deficiency Study in Mouse by Cruciani-Guglielmacci, Céline, Meneyrol, Kelly, Denom, Jessica, Kassis, Nadim, Rachdi, Latif, Makaci, Fatna, Migrenne-Li, Stéphanie, Daubigney, Fabrice, Georgiadou, Eleni, Denis, Raphaël G, Rodriguez Sanchez-Archidona, Ana, Paul, Jean-Louis, Thorens, Bernard, Rutter, Guy A, Magnan, Christophe, Le Stunff, Hervé, Janel, Nathalie

“…Cystathionine beta synthase (CBS) catalyzes the first step of the transsulfuration pathway from homocysteine to cystathionine, and its deficiency leads to…”
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