Search Results - "Elise, Lebigot"

UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia by Gaignard, Pauline, Eyer, Didier, Lebigot, Elise, Oliveira, Christophe, Therond, Patrice, Boutron, Audrey, Slama, Abdelhamid

“…An isolated mitochondrial complex III (CIII) defect constitutes a rare cause of mitochondrial disorder. Here we present the second case involving UQCRC2 gene,…”
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A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation by Lebigot, Elise, Schiff, Manuel, Golinelli-Cohen, Marie-Pierre

“…Mitochondrial proteins carrying iron-sulfur (Fe-S) clusters are involved in essential cellular pathways such as oxidative phosphorylation, lipoic acid…”
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Human Dermal Fibroblast: A Promising Cellular Model to Study Biological Mechanisms of Major Depression and Antidepressant Drug Response by Mesdom, Pierre, Colle, Romain, Lebigot, Elise, Trabado, Séverine, Deflesselle, Eric, Fève, Bruno, Becquemont, Laurent, Corruble, Emmanuelle, Verstuyft, Céline

“…Background: Human dermal fibroblasts (HDF) can be used as a cellular model relatively easily and without genetic engineering. Therefore, HDF represent an…”
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FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation by Montealegre, Sebastian, Lebigot, Elise, Debruge, Hugo, Romero, Norma, Héron, Bénédicte, Gaignard, Pauline, Legendre, Antoine, Imbard, Apolline, Gobin, Stéphanie, Lacène, Emmanuelle, Nusbaum, Patrick, Hubas, Arnaud, Desguerre, Isabelle, Servais, Aude, Laforêt, Pascal, van Endert, Peter, Authier, François Jérome, Gitiaux, Cyril, de Lonlay, Pascale

“…To determine common clinical and biological traits in 2 individuals with variants in and , displaying severe and recurrent rhabdomyolyses and lactic acidosis…”
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Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort by Bérat, Claire-Marine, Roda, Célina, Brassier, Anais, Bouchereau, Juliette, Wicker, Camille, Servais, Aude, Dubois, Sandrine, Assoun, Murielle, Belloche, Claire, Barbier, Valérie, Leboeuf, Virginie, Petit, François M., Gaignard, Pauline, Lebigot, Elise, Bérat, Pierre-Jean, Pontoizeau, Clément, Touati, Guy, Talbotec, Cécile, Campeotto, Florence, Ottolenghi, Chris, Arnoux, Jean-Baptiste, de Lonlay pascale, Pascale

“…A strictly controlled diet (often involving enteral tube feeding (ETF)) is part of the treatment of many inherited metabolic diseases (IMDs). To describe the…”
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CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder by de Thonel, Aurélie, Ahlskog, Johanna K., Daupin, Kevin, Dubreuil, Véronique, Berthelet, Jérémy, Chaput, Carole, Pires, Geoffrey, Leonetti, Camille, Abane, Ryma, Barris, Lluís Cordón, Leray, Isabelle, Aalto, Anna L., Naceri, Sarah, Cordonnier, Marine, Benasolo, Carène, Sanial, Matthieu, Duchateau, Agathe, Vihervaara, Anniina, Puustinen, Mikael C., Miozzo, Federico, Fergelot, Patricia, Lebigot, Élise, Verloes, Alain, Gressens, Pierre, Lacombe, Didier, Gobbo, Jessica, Garrido, Carmen, Westerheide, Sandy D., David, Laurent, Petitjean, Michel, Taboureau, Olivier, Rodrigues-Lima, Fernando, Passemard, Sandrine, Sabéran-Djoneidi, Délara, Nguyen, Laurent, Lancaster, Madeline, Sistonen, Lea, Mezger, Valérie

“…Patients carrying autosomal dominant mutations in the histone/lysine acetyl transferases CBP or EP300 develop a neurodevelopmental disorder: Rubinstein-Taybi…”
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Elevated MCHC reveals a Southeast Asian Ovalocytosis by Souissi, Maïssa, Daliphard, Sylvie, Picard, Véronique, Lebigot, Elise, Jardin, Fabrice, Bobée, Victor

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A novel mutation in the NR3C1 gene associated with reversible glucocorticoid resistance: Reversible glucocorticoid resistance: case report by Laulhé, Margaux, Kuhn, Emmanuelle, Bouligand, Jérôme, Amazit, Larbi, Perrot, Julie, Lebigot, Elise, Kamenickỷ, Peter, Lombès, Marc, Fagart, Jérôme, Viengchareun, Say, Martinerie, Laetitia

“…Abstract Objective Glucocorticoid resistance is a rare endocrine disease caused by variants of the NR3C1 gene encoding the glucocorticoid receptor (GR). We…”
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Recurrent Liver Failure in an 11-Year-Old Boy by Neveu, Julien, Hoebeke, Célia, Lebigot, Elise, Naïmi, Mourad

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Mitochondrial dysfunction caused by novel ATAD3A mutations by Dorison, Nathalie, Gaignard, Pauline, Bayot, Aurélien, Gelot, Antoinette, Becker, Pierre Hadrien, Fourati, Salma, Lebigot, Elise, Charles, Perrine, Wai, Timothy, Therond, Patrice, Slama, Abdelhamid

“…Mitochondrial respiratory chain integrity depends on a number of proteins encoded by nuclear and mitochondrial genomes. Mutations of such factors can result in…”
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MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy by Pujol, Claire, Lebigot, Elise, Gaignard, Pauline, Galai, Said, Kraoua, Ichraf, Bault, Jean-Philippe, Dard, Rodolphe, Youssef-Turki, Ilhem Ben, Omar, Souheil, Boutron, Audrey, Wai, Timothy, Slama, Abdelhamid

“…Abstract Pyruvate is an essential metabolite produced by glycolysis in the cytosol and must be transported across the inner mitochondrial membrane into the…”
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A novel mutation in the NR3C1 gene associated with reversible glucocorticoid resistance by Laulhé, Margaux, Kuhn, Emmanuelle, Bouligand, Jérôme, Amazit, Larbi, Perrot, Julie, Lebigot, Elise, Kamenickỷ, Peter, Lombès, Marc, Fagart, Jérôme, Viengchareun, Say, Martinerie, Laetitia

“…Glucocorticoid resistance is a rare endocrine disease caused by variants of the NR3C1 gene encoding the glucocorticoid receptor (GR). We identified a novel…”
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Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy by Habarou, Florence, Hamel, Yamina, Haack, Tobias B., Feichtinger, René G., Lebigot, Elise, Marquardt, Iris, Busiah, Kanetee, Laroche, Cécile, Madrange, Marine, Grisel, Coraline, Pontoizeau, Clément, Eisermann, Monika, Boutron, Audrey, Chrétien, Dominique, Chadefaux-Vekemans, Bernadette, Barouki, Robert, Bole-Feysot, Christine, Nitschke, Patrick, Goudin, Nicolas, Boddaert, Nathalie, Nemazanyy, Ivan, Delahodde, Agnès, Kölker, Stefan, Rodenburg, Richard J., Korenke, G. Christoph, Meitinger, Thomas, Strom, Tim M., Prokisch, Holger, Rotig, Agnes, Ottolenghi, Chris, Mayr, Johannes A., de Lonlay, Pascale

“…Lipoate serves as a cofactor for the glycine cleavage system (GCS) and four 2-oxoacid dehydrogenases functioning in energy metabolism (α-oxoglutarate…”
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Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1 by Emecen Sanli, Merve, Cengiz, Basak, Kilic, Ayse, Ozsaydi, Ekin, Inci, Asli, Okur, Ilyas, Tumer, Leyla, Lebigot, Elise, Ezgu, Fatih

“…Fructose 1,6 bisphosphatase (FBPase) deficiency is a rare autosomal recessively inherited metabolic disease. It is encoded by , and the enzyme catalyzes the…”
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Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients by Lebigot, Elise, Brassier, Anaïs, Zater, Mokhtar, Imanci, Dilek, Feillet, François, Thérond, Patrice, de Lonlay, Pascale, Boutron, Audrey

“…Fructose-1,6-bisphosphatase (FBPase) deficiency is a very rare autosomal recessive disorder caused by a mutation of the fructose-1,6-bisphosphatase gene( FBP1…”
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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy by Hengel, Holger, Bosso-Lefèvre, Célia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Élise, Tan, Thong-Teck, Eio, Michelle Y., Narayanan, Gunaseelan, Utami, Kagistia Hana, Yau, Monica, Handal, Nader, Deigendesch, Werner, Keimer, Reinhard, Marzouqa, Hiyam M., Gunay-Aygun, Meral, Muriello, Michael J., Verhelst, Helene, Weckhuysen, Sarah, Mahida, Sonal, Naidu, Sakkubai, Thomas, Terrence G., Lim, Jiin Ying, Tan, Ee Shien, Haye, Damien, Willemsen, Michèl A. A. P., Oegema, Renske, Mitchell, Wendy G., Pierson, Tyler Mark, Andrews, Marisa V., Willing, Marcia C., Rodan, Lance H., Barakat, Tahsin Stefan, van Slegtenhorst, Marjon, Gavrilova, Ralitza H., Martinelli, Diego, Gilboa, Tal, Tamim, Abdullah M., Hashem, Mais O., AlSayed, Moeenaldeen D., Abdulrahim, Maha M., Al-Owain, Mohammed, Awaji, Ali, Mahmoud, Adel A. H., Faqeih, Eissa A., Asmari, Ali Al, Algain, Sulwan M., Jad, Lamyaa A., Aldhalaan, Hesham M., Helbig, Ingo, Koolen, David A., Riess, Angelika, Kraegeloh-Mann, Ingeborg, Bauer, Peter, Gulsuner, Suleyman, Stamberger, Hannah, Ng, Alvin Yu Jin, Tang, Sha, Tohari, Sumanty, Keren, Boris, Schultz-Rogers, Laura E., Klee, Eric W., Barresi, Sabina, Tartaglia, Marco, Mor-Shaked, Hagar, Maddirevula, Sateesh, Begtrup, Amber, Telegrafi, Aida, Pfundt, Rolph, Schüle, Rebecca, Ciruna, Brian, Bonnard, Carine, Pouladi, Mahmoud A., Stewart, James C., Claridge-Chang, Adam, Lefeber, Dirk J., Alkuraya, Fowzan S., Mathuru, Ajay S., Venkatesh, Byrappa, Barycki, Joseph J., Simpson, Melanie A., Jamuar, Saumya S., Schöls, Ludger, Reversade, Bruno

“…Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an…”
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Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory by Chappell, Kenneth, Francou, Bruno, Habib, Christophe, Huby, Thomas, Leoni, Marco, Cottin, Aurélien, Nadal, Florian, Adnet, Eric, Paoli, Eric, Oliveira, Christophe, Verstuyft, Céline, Davit-Spraul, Anne, Gaignard, Pauline, Lebigot, Elise, Duclos-Vallee, Jean-Charles, Young, Jacques, Kamenicky, Peter, Adams, David, Echaniz-Laguna, Andoni, Gonzales, Emmanuel, Bouvattier, Claire, Linglart, Agnes, Picard, Véronique, Bergoin, Emilie, Jacquemin, Emmanuel, Guiochon-Mantel, Anne, Proust, Alexis, Bouligand, Jérôme

“…To date, the usage of Galaxy, an open-source bioinformatics platform, has been reported primarily in research. We report 5 years' experience (2015 to 2020)…”
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Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up by Gorce, Magali, Lebigot, Elise, Arion, Alina, Brassier, Anaïs, Cano, Aline, De Lonlay, Pascale, Feillet, François, Gay, Claire, Labarthe, François, Nassogne, Marie‐Cécile, Roche, Sandrine, Roubertie, Agathe, Sacaze, Elise, Touati, Guy, Broué, Pierre

“…Liver disease, occurring during pediatric or adult age, is often of undetermined cause. Some cases are probably related to undiagnosed inherited metabolic…”
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UQCRC2-related mitochondrial complex III deficiency, about 7 patients by Bansept, Claire, Gaignard, Pauline, Lebigot, Elise, Eyer, Didier, Delplancq, Geoffroy, Hoebeke, Célia, Mazodier, Karin, Ledoyen, Anaïs, Rouzier, Cécile, Fragaki, Konstantina, Ait-El-Mkadem Saadi, Samira, Philippe, Christophe, Bruel, Ange-Line, Faivre, Laurence, Feillet, François, Abi Warde, Marie-Thérèse

“…•UQCRC2 deficiency is characterised by hypoglycaemia with hyperlactatemia and recurrent episodes of severe hepatic failure.•Decompensations are frequent in…”
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Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies by François‐Heude, Marie‐Céline, Lebigot, Elise, Roze, Emmanuel, Warde, Marie Thérèse Abi, Cances, Claude, Damaj, Lena, Espil, Caroline, Fluss, Joel, Lonlay, Pascale, Kern, Ilse, Lenaers, Guy, Munnich, Arnold, Meyer, Pierre, Spitz, Marie‐Aude, Torre, Stéphanie, Doummar, Diane, Touati, Guy, Leboucq, Nicolas, Roubertie, Agathe

“…Background and purpose HIBCH and ECHS1 genes encode two enzymes implicated in the critical steps of valine catabolism, 3‐hydroxyisobutyryl‐coenzyme A (CoA)…”
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