Search Results - "Potelle, Sven"

Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis by Potelle, Sven, Morelle, Willy, Dulary, Eudoxie, Duvet, Sandrine, Vicogne, Dorothée, Spriet, Corentin, Krzewinski-Recchi, Marie-Ange, Morsomme, Pierre, Jaeken, Jaak, Matthijs, Gert, De Bettignies, Geoffroy, Foulquier, François

“…Congenital disorders of glycosylation (CDG) are severe inherited diseases in which aberrant protein glycosylation is a hallmark. From this genetically and…”
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The promiscuous binding pocket of SLC35A1 ensures redundant transport of CDP-ribitol to the Golgi by Ury, Benoît, Potelle, Sven, Caligiore, Francesco, Whorton, Matthew R., Bommer, Guido T.

“…The glycoprotein α-dystroglycan helps to link the intracellular cytoskeleton to the extracellular matrix. A unique glycan structure attached to this protein is…”
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TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis by Dulary, Eudoxie, Potelle, Sven, Legrand, Dominique, Foulquier, François

“…Graphical abstract…”
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Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects by Morelle, Willy, Potelle, Sven, Witters, Peter, Wong, Sunnie, Climer, Leslie, Lupashin, Vladimir, Matthijs, Gert, Gadomski, Therese, Jaeken, Jaak, Cassiman, David, Morava, Eva, Foulquier, François

“…Abstract Context: TMEM165 deficiency is a severe multisystem disease that manifests with metabolic, endocrine, and skeletal involvement. It leads to one type…”
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Golgi post-translational modifications and associated diseases by Potelle, Sven, Klein, André, Foulquier, François

“…For non specialists, Golgi is a very well known subcellular compartment involved in secretion and correct targeting of soluble and transmembrane proteins…”
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Involvement of thapsigargin– and cyclopiazonic acid–sensitive pumps in the rescue of TMEM165‐associated glycosylation defects by Mn2 by Houdou, Marine, Lebredonchel, Elodie, Garat, Anne, Duvet, Sandrine, Legrand, Dominique, Decool, Valérie, Klein, André, Ouzzine, Mohamed, Gasnier, Bruno, Potelle, Sven, Foulquier, François

“…ABSTRACT Congenital disorders of glycosylation are severe inherited diseases in which aberrant protein glycosylation is a hallmark. Transmembrane protein 165…”
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Manganese-induced turnover of TMEM165 by Potelle, Sven, Dulary, Eudoxie, Climer, Leslie, Duvet, Sandrine, Morelle, Willy, Vicogne, Dorothée, Lebredonchel, Elodie, Houdou, Marine, Spriet, Corentin, Krzewinski-Recchi, Marie-Ange, Peanne, Romain, Klein, André, de Bettignies, Geoffroy, Morsomme, Pierre, Matthijs, Gert, Marquardt, Thorsten, Lupashin, Vladimir, Foulquier, François

“…TMEM165 deficiencies lead to one of the congenital disorders of glycosylation (CDG), a group of inherited diseases where the glycosylation process is altered…”
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Dissection of TMEM165 function in Golgi glycosylation and its Mn2+ sensitivity by Lebredonchel, Elodie, Houdou, Marine, Potelle, Sven, de Bettignies, Geoffroy, Schulz, Céline, Krzewinski Recchi, Marie-Ange, Lupashin, Vladimir, Legrand, Dominique, Klein, André, Foulquier, François

“…Since 2012, the interest for TMEM165 increased due to its implication in a rare genetic human disease named TMEM165-CDG (Congenital Disorder(s) of…”
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Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder by Morava, Eva, Schatz, Ulrich A., Torring, Pernille M., Abbott, Mary-Alice, Baumann, Matthias, Brasch-Andersen, Charlotte, Chevalier, Nathalie, Dunkhase-Heinl, Ulrike, Fleger, Martin, Haack, Tobias B., Nelson, Stephen, Potelle, Sven, Radenkovic, Silvia, Bommer, Guido T., Van Schaftingen, Emile, Veiga-da-Cunha, Maria

“…We describe a genetic syndrome due to PGM2L1 deficiency. PGM2 and PGM2L1 make hexose-bisphosphates, like glucose-1,6-bisphosphate, which are indispensable…”
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Investigating the function of Gdt1p in yeast Golgi glycosylation by Dulary, Eudoxie, Yu, Shin-Yi, Houdou, Marine, de Bettignies, Geoffroy, Decool, Valérie, Potelle, Sven, Duvet, Sandrine, Krzewinski-Recchi, Marie-Ange, Garat, Anne, Matthijs, Gert, Guerardel, Yann, Foulquier, François

“…The Golgi ion homeostasis is tightly regulated to ensure essential cellular processes such as glycosylation, yet our understanding of this regulation remains…”
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Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder by Maia, Nuno, Potelle, Sven, Yildirim, Hamide, Duvet, Sandrine, Akula, Shyam K., Schulz, Celine, Wiame, Elsa, Gheldof, Alexander, O’Kane, Katherine, Lai, Abbe, Sermon, Karen, Proisy, Maïa, Loget, Philippe, Attié-Bitach, Tania, Quelin, Chloé, Fortuna, Ana Maria, Soares, Ana Rita, de Brouwer, Arjan P.M., Van Schaftingen, Emile, Nassogne, Marie-Cécile, Walsh, Christopher A., Stouffs, Katrien, Jorge, Paula, Jansen, Anna C., Foulquier, François

“…Free oligosaccharides (fOSs) are soluble oligosaccharide species generated during N-glycosylation of proteins. Although little is known about fOS metabolism,…”
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Involvement of thapsigargin- and cyclopiazonic acid-sensitive pumps in the rescue of TMEM165-associated glycosylation defects by Mn 2 by Houdou, Marine, Lebredonchel, Elodie, Garat, Anne, Duvet, Sandrine, Legrand, Dominique, Decool, Valérie, Klein, André, Ouzzine, Mohamed, Gasnier, Bruno, Potelle, Sven, Foulquier, François

“…Congenital disorders of glycosylation are severe inherited diseases in which aberrant protein glycosylation is a hallmark. Transmembrane protein 165 (TMEM165)…”
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Evidence for splice transcript variants of TMEM165, a gene involved in CDG by Krzewinski-Recchi, Marie-Ange, Potelle, Sven, Mir, Anne-Marie, Vicogne, Dorothée, Dulary, Eudoxie, Duvet, Sandrine, Morelle, Willy, de Bettignies, Geoffroy, Foulquier, François

“…Defects in TMEM165 gene cause a type-II Congenital Disorder of Glycosylation affecting Golgi glycosylation processes. TMEM165 patients exhibit psychomotor…”
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Dissection of TMEM165 function in Golgi glycosylation and its Mn 2+ sensitivity by Lebredonchel, Elodie, Houdou, Marine, Potelle, Sven, de Bettignies, Geoffroy, Schulz, Céline, Krzewinski Recchi, Marie-Ange, Lupashin, Vladimir, Legrand, Dominique, Klein, André, Foulquier, François

“…Since 2012, the interest for TMEM165 increased due to its implication in a rare genetic human disease named TMEM165-CDG (Congenital Disorder(s) of…”
Get full text