Search Results - "Cheillan, David"

Sphingolipid-mediated inflammatory signaling leading to autophagy inhibition converts erythropoiesis to myelopoiesis in human hematopoietic stem/progenitor cells by Orsini, Marion, Chateauvieux, Sébastien, Rhim, Jiyun, Gaigneaux, Anthoula, Cheillan, David, Christov, Christo, Dicato, Mario, Morceau, Franck, Diederich, Marc

“…Elevated levels of the pro-inflammatory cytokine tumor necrosis factor-α (TNFα) inhibit erythropoiesis and cause anemia in patients with cancer and chronic…”
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Increased incidence of congenital hypothyroidism in France from 1982 to 2012: a nationwide multicenter analysis by Barry, Yaya, MS, Bonaldi, Christophe, PhD, Goulet, Véronique, MD, PhD, Coutant, Régis, MD, PhD, Léger, Juliane, MD, PhD, Paty, Annie-Claude, MS, Delmas, Dominique, MS, Cheillan, David, PhD, Roussey, Michel, MD, PhD

“…Abstract Purpose Recent studies have shown an increased incidence of congenital hypothyroidism over the past 2 or 3 decades. The etiology of this change is…”
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Creatine biosynthesis and transport in health and disease by Joncquel-Chevalier Curt, Marie, Voicu, Pia-Manuela, Fontaine, Monique, Dessein, Anne-Frédérique, Porchet, Nicole, Mention-Mulliez, Karine, Dobbelaere, Dries, Soto-Ares, Gustavo, Cheillan, David, Vamecq, Joseph

“…Creatine is physiologically provided equally by diet and by endogenous synthesis from arginine and glycine with successive involvements of arginine glycine…”
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LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease by Pettazzoni, Magali, Froissart, Roseline, Pagan, Cécile, Vanier, Marie T, Ruet, Séverine, Latour, Philippe, Guffon, Nathalie, Fouilhoux, Alain, Germain, Dominique P, Levade, Thierry, Vianey-Saban, Christine, Piraud, Monique, Cheillan, David

“…The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids…”
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Intestinal absorption of sphingosine: new insights on generated ceramide species using stable isotope tracing in vitro by Calzada, Catherine, Cheillan, David, Ritsch, Nina, Vors, Cécile, Durand, Annie, Pesenti, Sandra, Pettazzoni, Magali, Meugnier, Emmanuelle, Michalski, Marie-Caroline, Penhoat, Armelle

“…Dietary sphingomyelin (SM) has been reported to favorably modulate postprandial lipemia. Mechanisms underlying these beneficial effects on cardiovascular risk…”
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Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model by Martins, Carla, Hůlková, Helena, Dridi, Larbi, Dormoy-Raclet, Virginie, Grigoryeva, Lubov, Choi, Yoo, Langford-Smith, Alexander, Wilkinson, Fiona L, Ohmi, Kazuhiro, DiCristo, Graziella, Hamel, Edith, Ausseil, Jerôme, Cheillan, David, Moreau, Alain, Svobodová, Eva, Hájková, Zuzana, Tesařová, Markéta, Hansíková, Hana, Bigger, Brian W, Hrebícek, Martin, Pshezhetsky, Alexey V

“…Severe progressive neurological paediatric disease mucopolysaccharidosis III type C is caused by mutations in the HGSNAT gene leading to deficiency of…”
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Acute effects of milk polar lipids on intestinal tight junction expression: towards an impact of sphingomyelin through the regulation of IL-8 secretion? by Milard, Marine, Penhoat, Armelle, Durand, Annie, Buisson, Charline, Loizon, Emmanuelle, Meugnier, Emmanuelle, Bertrand, Karène, Joffre, Florent, Cheillan, David, Garnier, Lorna, Viel, Sébastien, Laugerette, Fabienne, Michalski, Marie-Caroline

“…Milk polar lipids (MPL) are specifically rich in milk sphingomyelin (MSM) which represents 24% of MPL. Beneficial effects of MPL or MSM have been reported on…”
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Role of circulating sphingolipids in lipid metabolism: Why dietary lipids matter by Calzada, Catherine, Vors, Cécile, Penhoat, Armelle, Cheillan, David, Michalski, Marie-Caroline

“…Sphingolipids are structural components of cell membranes and lipoproteins but also act as signaling molecules in many pathophysiological processes. Although…”
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Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders by Piraud, Monique, Pettazzoni, Magali, Lavoie, Pamela, Ruet, Séverine, Pagan, Cécile, Cheillan, David, Latour, Philippe, Vianey-Saban, Christine, Auray-Blais, Christiane, Froissart, Roseline

“…Tandem mass spectrometry (MS/MS) is a highly sensitive and specific technique. Thanks to the development of triple quadrupole analyzers, it is becoming more…”
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Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia by Renaud, Mathilde, Guissart, Claire, Mallaret, Martial, Ferdinandusse, Sacha, Cheillan, David, Drouot, Nathalie, Muller, Jean, Claustres, Mireille, Tranchant, Christine, Anheim, Mathieu, Koenig, Michel

“…Peroxisomal biogenesis disorders (PBDs) consist of a heterogeneous group of autosomal recessive diseases, in which peroxisome assembly and proliferation are…”
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Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice by Ausseil, Jérôme, Desmaris, Nathalie, Bigou, Stéphanie, Attali, Ruben, Corbineau, Sébastien, Vitry, Sandrine, Parent, Mathieu, Cheillan, David, Fuller, Maria, Maire, Irène, Vanier, Marie-Thérèse, Heard, Jean-Michel

“…In mucopolysaccharidosis type IIIB, a lysosomal storage disease causing early onset mental retardation in children, the production of abnormal oligosaccharidic…”
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Screening of Wilson's disease in a psychiatric population: difficulties and pitfalls. A preliminary study by Demily, Caroline, Parant, François, Cheillan, David, Broussolle, Emmanuel, Pavec, Alice, Guillaud, Olivier, Restier, Lioara, Lachaux, Alain, Bost, Muriel

“…Wilson's disease (WD) is a rare autosomal-recessive, inherited disorder caused by a mutation in the copper-transporting gene affecting the liver and nervous…”
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TNF-α- and tumor-induced skeletal muscle atrophy involves sphingolipid metabolism by De Larichaudy, Joffrey, Zufferli, Alessandra, Serra, Filippo, Isidori, Andrea M, Naro, Fabio, Dessalle, Kevin, Desgeorges, Marine, Piraud, Monique, Cheillan, David, Vidal, Hubert, Lefai, Etienne, Némoz, Georges

“…Muscle atrophy associated with various pathophysiological conditions represents a major health problem, because of its contribution to the deterioration of…”
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Milk polar lipids favorably alter circulating and intestinal ceramide and sphingomyelin species in postmenopausal women by Le Barz, Mélanie, Vors, Cécile, Combe, Emmanuel, Joumard-Cubizolles, Laurie, Lecomte, Manon, Joffre, Florent, Trauchessec, Michèle, Pesenti, Sandra, Loizon, Emmanuelle, Breyton, Anne-Esther, Meugnier, Emmanuelle, Bertrand, Karène, Drai, Jocelyne, Robert, Chloé, Durand, Annie, Cuerq, Charlotte, Gaborit, Patrice, Leconte, Nadine, Bernalier-Donadille, Annick, Cotte, Eddy, Laville, Martine, Lambert-Porcheron, Stéphanie, Ouchchane, Lemlih, Vidal, Hubert, Malpuech-Brugère, Corinne, Cheillan, David, Michalski, Marie-Caroline

“…BACKGROUNDHigh circulating levels of ceramides (Cer) and sphingomyelins (SM) are associated with cardiometabolic diseases. The consumption of whole fat dairy…”
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Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8 , 20" by Jones, Simon A, Cheillan, David, Chakrapani, Anupam, Church, Heather J, Heales, Simon, Wu, Teresa H Y, Morton, Georgina, Roberts, Patricia, Sluys, Erica F, Burlina, Alberto

“…The commentary provided by Maase et al. [...]…”
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Towards Achieving Equity and Innovation in Newborn Screening across Europe by Sikonja, Jaka, Groselj, Urh, Scarpa, Maurizio, la Marca, Giancarlo, Cheillan, David, Kölker, Stefan, Zetterström, Rolf H, Kožich, Viktor, Le Cam, Yann, Gumus, Gulcin, Bottarelli, Valentina, van der Burg, Mirjam, Dekkers, Eugenie, Battelino, Tadej, Prevot, Johan, Schielen, Peter C J I, Bonham, James R

“…Although individual rare disorders are uncommon, it is estimated that, together, 6000+ known rare diseases affect more than 30 million people in Europe, and…”
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Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe by Jones, Simon A, Cheillan, David, Chakrapani, Anupam, Church, Heather J, Heales, Simon, Wu, Teresa H Y, Morton, Georgina, Roberts, Patricia, Sluys, Erica F, Burlina, Alberto

“…Inherited metabolic disorders (IMDs) are mostly rare, have overlapping symptoms, and can be devastating and progressive. However, in many disorders, early…”
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Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France by Lefèvre, Charles R, Labarthe, François, Dufour, Diane, Moreau, Caroline, Faoucher, Marie, Rollier, Paul, Arnoux, Jean-Baptiste, Tardieu, Marine, Damaj, Léna, Bendavid, Claude, Dessein, Anne-Frédérique, Acquaviva-Bourdain, Cécile, Cheillan, David

“…Primary Carnitine Deficiency (PCD) is a fatty acid oxidation disorder that will be included in the expansion of the French newborn screening (NBS) program at…”
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A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes by Burlina, Alberto, Jones, Simon A, Chakrapani, Anupam, Church, Heather J, Heales, Simon, Wu, Teresa H Y, Morton, Georgina, Roberts, Patricia, Sluys, Erica F, Cheillan, David

“…Newborn screening (NBS) programmes are essential in the diagnosis of inherited metabolic diseases (IMDs) and for access to disease modifying treatment. Most…”
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Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation by Cheillan, David

“…Zellweger syndrome disorders (ZSD) is the principal group of peroxisomal disorders characterized by a defect of peroxisome biogenesis due to mutations in one…”
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