Search Results - "Acquaviva, Cécile"

Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges by Vianey‐Saban, Christine, Guffon, Nathalie, Fouilhoux, Alain, Acquaviva, Cécile

“…Since the identification of the first disorder of mitochondrial fatty acid oxidation defects (FAOD) in 1973, more than 20 defects have been identified…”
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Imeglimin normalizes glucose tolerance and insulin sensitivity and improves mitochondrial function in liver of a high-fat, high-sucrose diet mice model by Vial, Guillaume, Chauvin, Marie-Agnès, Bendridi, Nadia, Durand, Annie, Meugnier, Emmanuelle, Madec, Anne-Marie, Bernoud-Hubac, Nathalie, Pais de Barros, Jean-Paul, Fontaine, Éric, Acquaviva, Cécile, Hallakou-Bozec, Sophie, Bolze, Sébastien, Vidal, Hubert, Rieusset, Jennifer

“…Imeglimin is the first in a new class of oral glucose-lowering agents currently in phase 2b development. Although imeglimin improves insulin sensitivity in…”
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SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance by Schiff, Manuel, Veauville-Merllié, Alice, Su, Chen Hsien, Tzagoloff, Alexander, Rak, Malgorzata, Ogier de Baulny, Hélène, Boutron, Audrey, Smedts-Walters, Hélène, Romero, Norma B, Rigal, Odile, Rustin, Pierre, Vianey-Saban, Christine, Acquaviva-Bourdain, Cécile

“…A patient with late-onset exercise intolerance had haploinsufficiency of SLC25A32, which encodes the human mitochondrial flavin adenine dinucleotide…”
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Severe transient myopathy in a patient with progressive multiple sclerosis and high-dose biotin by Maillart, Elisabeth, Mochel, Fanny, Acquaviva, Cécile, Maisonobe, Thierry, Stankoff, Bruno

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Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy by Scheidecker, Sophie, Bär, Séverine, Stoetzel, Corinne, Geoffroy, Véronique, Lannes, Béatrice, Rinaldi, Bruno, Fischer, Frédéric, Becker, Hubert D., Pelletier, Valérie, Pagan, Cécile, Acquaviva‐Bourdain, Cécile, Kremer, Stéphane, Mirande, Marc, Tranchant, Christine, Muller, Jean, Friant, Sylvie, Dollfus, Hélène

“…Mutations in genes encoding aminoacyl‐tRNA synthetases have been reported in several neurological disorders. KARS is a dual localized lysyl‐tRNA synthetase and…”
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Mevalonate kinase deficiency: a survey of 50 patients by Bader-Meunier, Brigitte, Florkin, Benoit, Sibilia, Jean, Acquaviva, Cécile, Hachulla, Eric, Grateau, Gilles, Richer, Olivier, Farber, Claire Michèle, Fischbach, Michel, Hentgen, Véronique, Jego, Patrick, Laroche, Cécile, Neven, Bénédicte, Lequerré, Thierry, Mathian, Alexis, Pellier, Isabelle, Touitou, Isabelle, Rabier, Daniel, Prieur, Anne-Marie, Cuisset, Laurence, Quartier, Pierre

“…The goal of this study was to describe the spectrum of clinical signs of mevalonate kinase deficiency (MKD). This was a retrospective French and Belgian study…”
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Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series by Lefèvre, Charles R., Collardeau‐Frachon, Sophie, Streichenberger, Nathalie, Berenguer‐Martin, Sophie, Clémenson, Alix, Massardier, Jérôme, Prieur, Fabienne, Laurichesse, Hélène, Laffargue, Fanny, Acquaviva‐Bourdain, Cécile, Froissart, Roseline, Pettazzoni, Magali

“…Glycogen storage disease type IV (GSD IV), also called Andersen disease, or amylopectinosis, is a highly heterogeneous autosomal recessive disorder caused by a…”
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The effect of lumasiran therapy for primary hyperoxaluria type 1 in small infants by Méaux, Marie-Noëlle, Sellier-Leclerc, Anne-Laure, Acquaviva-Bourdain, Cécile, Harambat, Jérôme, Allard, Lise, Bacchetta, Justine

“…Background Lumasiran, a sub-cutaneous RNA-interference therapy, has been recently approved for primary hyperoxaluria type 1 (PH1), with doses and intervals…”
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Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment by COCHAT, Pierre, HULTON, Sally-Anne, JAMIESON, Neville V, KEMPER, Markus J, MANDRILE, Giorgia, MARANGELLA, Martino, PICCA, Stefano, RUMSBY, Gill, SALIDO, Eduardo, STRAUB, Michael, WOERDEN, Christiaan S. Van, ACQUAVIVA, Cecile, DANPURE, Christopher J, DAUDON, Michel, DE MARCHI, Mario, FARGUE, Sonia, GROOTHOFF, Jaap, HARAMBAT, Jerome, HOPPE, Bernd

“…Primary hyperoxaluria Type 1 is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific enzyme…”
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Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy by Machuca-Gayet, Irma, Quinaux, Thomas, Bertholet-Thomas, Aurélia, Gaillard, Ségolène, Claramunt-Taberner, Débora, Acquaviva-Bourdain, Cécile, Bacchetta, Justine

“…Patients with chronic kidney disease (CKD) display significant mineral and bone disorders (CKD-MBD) that induce significant cardiovascular, growth and bone…”
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Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein by Oerum, Stephanie, Roovers, Martine, Leichsenring, Michael, Acquaviva-Bourdain, Cécile, Beermann, Frauke, Gemperle-Britschgi, Corinne, Fouilhoux, Alain, Korwitz-Reichelt, Anne, Bailey, Henry J., Droogmans, Louis, Oppermann, Udo, Sass, Jörn Oliver, Yue, Wyatt W.

“…MRPP2 (also known as HSD10/SDR5C1) is a multifunctional protein that harbours both catalytic and non-catalytic functions. The protein belongs to the…”
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DHA at nutritional doses restores insulin sensitivity in skeletal muscle by preventing lipotoxicity and inflammation by Capel, Frédéric, Acquaviva, Cécile, Pitois, Elodie, Laillet, Brigitte, Rigaudière, Jean-Paul, Jouve, Chrystèle, Pouyet, Corinne, Gladine, Cècile, Comte, Blandine, Vianey Saban, Christine, Morio, Bèatrice

“…Skeletal muscle plays a major role in the control of whole body glucose disposal in response to insulin stimulus. Excessive supply of fatty acids to this…”
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Oleate dose-dependently regulates palmitate metabolism and insulin signaling in C2C12 myotubes by Capel, Frédéric, Cheraiti, Naoufel, Acquaviva, Cécile, Hénique, Carole, Bertrand-Michel, Justine, Vianey-Saban, Christine, Prip-Buus, Carina, Morio, Béatrice

“…Because the protective effect of oleate against palmitate-induced insulin resistance may be lessened in skeletal muscle once cell metabolism is overloaded by…”
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Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care by Vecten, Maude, Pion, Emmanuelle, Bartoli, Marc, Morales, Raul Juntas, Sternberg, Damien, Rendu, John, Stojkovic, Tanya, Bourdain, Cécile Acquaviva, Métay, Corinne, Richard, Isabelle, Cerino, Mathieu, Milh, Mathieu, Campana-Salort, Emmanuelle, Gorokhova, Svetlana, Levy, Nicolas, Latypova, Xénia, Bonne, Gisèle, Biancalana, Valérie, Petit, François, Molon, Annamaria, Perrin, Aurélien, Laforêt, Pascal, Attarian, Shahram, Krahn, Martin, Cossée, Mireille

“…The implementation of high-throughput diagnostic sequencing has led to the generation of large amounts of mutational data, making their interpretation more…”
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Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes by Gautheron, Jérémie, Lima, Lara, Akinci, Baris, Zammouri, Jamila, Auclair, Martine, Ucar, Sema Kalkan, Ozen, Samim, Altay, Canan, Bax, Bridget E, Nemazanyy, Ivan, Lenoir, Véronique, Prip-Buus, Carina, Acquaviva-Bourdain, Cécile, Lascols, Olivier, Fève, Bruno, Vigouroux, Corinne, Noel, Esther, Jéru, Isabelle

“…Thymidine phosphorylase (TP), encoded by the TYMP gene, is a cytosolic enzyme essential for the nucleotide salvage pathway. TP catalyzes the phosphorylation of…”
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Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis by Curie, Aurore, Touil, Nathalie, Gaillard, Ségolène, Galanaud, Damien, Leboucq, Nicolas, Deschênes, Georges, Morin, Denis, Abad, Fanny, Luauté, Jacques, Bodenan, Eurielle, Roche, Laurent, Acquaviva, Cécile, Vianey-Saban, Christine, Cochat, Pierre, Cotton, François, Bertholet-Thomas, Aurélia

“…Cystinosis is a rare autosomal recessive disorder caused by intracellular cystine accumulation. Proximal tubulopathy (Fanconi syndrome) is one of the first…”
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Genotype–phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome by Harambat, Jérôme, Fargue, Sonia, Acquaviva, Cécile, Gagnadoux, Marie-France, Janssen, Françoise, Liutkus, Aurélia, Mourani, Chebl, Macher, Marie-Alice, Abramowicz, Daniel, Legendre, Christophe, Durrbach, Antoine, Tsimaratos, Michel, Nivet, Hubert, Girardin, Eric, Schott, Anne-Marie, Rolland, Marie-Odile, Cochat, Pierre

“…We sought to ascertain the long-term outcome and genotype–phenotype correlations available for primary hyperoxaluria type 1 in a large retrospective cohort…”
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Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay by Pszczolinski, Romain, Acquaviva, Cécile, Berrahal, Insaf, Biebuyck, Nathalie, Burtey, Stéphane, Clabault, Karine, Dossier, Claire, Guillet, Matthieu, Hemery, Floriane, Letavernier, Emmanuel, Rousset-Rouvière, Caroline, Bacchetta, Justine, Moulin, Bruno

“…Primary hyperoxalurias (PH) are extremely rare genetic disorders characterized by clinical heterogeneity. Delay in diagnosing these conditions can have…”
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Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria by Abily-Donval, Lenaig, Torre, Stéphanie, Samson, Aurélie, Sudrié-Arnaud, Bénédicte, Acquaviva, Cécile, Guerrot, Anne-Marie, Benoist, Jean-François, Marret, Stéphane, Bekri, Soumeya, Tebani, Abdellah

“…Methylmalonyl-CoA epimerase (MCE) converts d-methylmalonyl-CoA epimer to l-methylmalonyl-CoA epimer in the propionyl-CoA to succinyl-CoA pathway. Only seven…”
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Inflammation-linked adaptations in dermal microvascular reactivity accompany the development of obesity and type 2 diabetes by Nguyen-Tu, Marie-Sophie, Nivoit, Pierre, Oréa, Valérie, Lemoine, Sandrine, Acquaviva, Cécile, Pagnon-Minot, Aurélie, Fromy, Bérengère, Sethi, Jaswinder K., Sigaudo-Roussel, Dominique

“…Background/Objectives The increased prevalence of obesity has prompted great strides in our understanding of specific adipose depots and their involvement in…”
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