Absence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cells

Authors: Kentache, Takfarinas ¹, Althoff, Charlotte R. ^{2, 3, ‡}, Caligiore, Francesco ^{1, ‡}, Souche, Erika ⁴, Schulz, Céline ³, Graff, Julie ¹, Pieters, Eline ², Stanley, Pamela ⁵, Contessa, Joseph N. ^{6, 7}, Van Schaftingen, Emile ¹, Matthijs, Gert ², Foulquier, François ³, Bommer, Guido T. ^{1, ∗}, Wilson, Matthew P. ^{2, ∗}

Source: In Journal of Biological Chemistry December 2024 300(12)

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis

Authors: Wilson, Matthew P., Kentache, Takfarinas, Althoff, Charlotte R., Schulz, Céline, de Bettignies, Geoffroy, Mateu Cabrera, Gisèle, Cimbalistiene, Loreta, Burnyte, Birute, Yoon, Grace, Costain, Gregory, Vuillaumier-Barrot, Sandrine, Cheillan, David, Rymen, Daisy, Rychtarova, Lucie, Hansikova, Hana, Bury, Marina, Dewulf, Joseph P., Caligiore, Francesco, Jaeken, Jaak, Cantagrel, Vincent, Van Schaftingen, Emile, Matthijs, Gert, Foulquier, François, Bommer, Guido T.

Source: In Cell 11 July 2024 187(14):3585-3601

Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant

Authors: Durin, Zoé, Raynor, Alexandre, Fenaille, François, Cholet, Sophie, Vuillaumier-Barrot, Sandrine, Alili, Jean-Meidi, Poupon, Joël, Oussedik, Nouzha Djebrani, Tuchmann-Durand, Caroline, Attali, Jennifer, Touzé, Romain, Dupré, Thierry, Lebredonchel, Elodie, Akaffou, Marlyse Angah, Legrand, Dominique, de Lonlay, Pascale, Bruneel, Arnaud, Foulquier, François

Source: In Translational Research April 2024 266:57-67

Metalloglycobiology: The power of metals in regulating glycosylation

Authors: Durin, Zoé, Houdou, Marine, Legrand, Dominique, Foulquier, François

Source: In BBA - General Subjects September 2023 1867(9)

Insights into the regulation of cellular Mn2+ homeostasis via TMEM165

Authors: Vicogne, Dorothée, Beauval, Nicolas, Durin, Zoé, Allorge, Delphine, Kondratska, Kateryna, Haustrate, Aurélien, Prevarskaya, Natasha, Lupashin, Vladimir, Legrand, Dominique, Foulquier, François

Source: In BBA - Molecular Basis of Disease August 2023 1869(6)

New insights into the pathogenicity of TMEM165 variants using structural modeling based on AlphaFold 2 predictions

Authors: Legrand, Dominique, Herbaut, Mélissandre, Durin, Zoé, Brysbaert, Guillaume, Bardor, Muriel, Lensink, Marc F., Foulquier, François

Source: In Computational and Structural Biotechnology Journal 2023 21:3424-3436

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

Authors: 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

Source: American journal of human genetics. 109(2):345-360

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100179602973.0x000001&indx=1&recIds=ETOCvdc_100179602973.0x000001

Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis

Authors: Lemoine, Hugo, Raud, Loann, Foulquier, François, Sayer, John A., Lambert, Baptiste, Olinger, Eric, Lefèvre, Siriane, Knebelmann, Bertrand, Harris, Peter C., Trouvé, Pascal, Desprès, Aurore, Duneau, Gabrielle, Matignon, Marie, Poyet, Anais, Jourde-Chiche, Noémie, Guerrot, Dominique, Lemoine, Sandrine, Seret, Guillaume, Barroso-Gil, Miguel, Bingham, Coralie, Gilbert, Rodney, Le Meur, Yannick, Audrézet, Marie-Pierre, Cornec-Le Gall, Emilie

Source: American journal of human genetics. 109(8):1484-1499

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100169003917.0x000001&indx=1&recIds=ETOCvdc_100169003917.0x000001

CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking

Authors: Wilson, Matthew P, Durin, Zoé, Unal, Özlem, Ng, Bobby G, Marrecau, Thomas, Keldermans, Liesbeth, Souche, Erika, Rymen, Daisy, Gündüz, Mehmet, Köse, Gülşen, Sturiale, Luisa, Garozzo, Domenico, Freeze, Hudson H, Jaeken, Jaak, Foulquier, François, Matthijs, Gert

Source: Human molecular genetics. 31(15):2571-2581

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100163722808.0x000001&indx=1&recIds=ETOCvdc_100163722808.0x000001

Towards understanding the extensive diversity of protein N‐glycan structures in eukaryotes

Authors: Toustou, Charlotte, Walet‐Balieu, Marie‐Laure, Kiefer‐Meyer, Marie‐Christine, Houdou, Marine, Lerouge, Patrice, Foulquier, François, Bardor, Muriel

Source: Biological reviews. 97(2):732-748

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100162415753.0x000001&indx=1&recIds=ETOCvdc_100162415753.0x000001

SLC10A7 regulates O-GalNAc glycosylation and Ca²⁺ homeostasis in the secretory pathway: insights into SLC10A7-CDG.

Authors: Durin, Zoé, Layotte, Aurore, Morelle, Willy, Houdou, Marine, Folcher, Antoine, Legrand, Dominique, Lefeber, Dirk, Prevarskaya, Natalia, Von Blume, Julia, Cormier-Daire, Valérie, Foulquier, François

Source: Cellular & Molecular Life Sciences; 1/8/2025, Vol. 82 Issue 1, p1-14, 14p

Subject Terms: LIFE sciences, MEMBRANE proteins, CYTOLOGY, CELL physiology, BILE acids

Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient

Authors: Lebredonchel, Elodie, Duvet, Sandrine, Douillard, Claire, Foulquier, François, Klein, André

Source: JIMD reports. 62(1):22-29

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100134619285.0x000001&indx=1&recIds=ETOCvdc_100134619285.0x000001

SLC37A4‐CDG: Second patient

Authors: Wilson, Matthew P., Quelhas, Dulce, Leão‐Teles, Elisa, Sturiale, Luisa, Rymen, Daisy, Keldermans, Liesbeth, Race, Valérie, Souche, Erika, Rodrigues, Esmeralda, Campos, Teresa, Van Schaftingen, Emile, Foulquier, François, Garozzo, Domenico, Matthijs, Gert, Jaeken, Jaak

Source: JIMD reports. 58(1):122-128

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100116116884.0x000001&indx=1&recIds=ETOCvdc_100116116884.0x000001

Reticular and Golgi glyeosylation: Advances and associated diseases

Authors: Groux-Degroote, Sophie, Foulquier, François, Cavdarli, Sumeyye, Delannoy, Philippe

Source: M/S. 37(6/7):609-617

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN626829592&indx=1&recIds=ETOCRN626829592

Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.

Authors: Kopp, Johannes, Jahn, Denise, Vogt, Guido, Psoma, Anthi, Ratto, Edoardo, Morelle, Willy, Stelzer, Nina, Hausser, Ingrid, Hoffmann, Anne, de los Santos, Miguel Rodriguez, Koch, Leonard A., Fischer-Zirnsak, Björn, Thiel, Christian, Palm, Wilhelm, Meierhofer, David, van den Bogaart, Geert, Foulquier, François, Meinhardt, Andreas, Kornak, Uwe

Source: Cellular & Molecular Life Sciences; 12/16/2024, Vol. 82 Issue 1, p1-19, 19p

Subject Terms: LIFE sciences, CYTOLOGY, PROTON pumps (Biology), CUTIS laxa, BIOCHEMISTRY

Biometals and glycosylation in humans: Congenital disorders of glycosylation shed lights into the crucial role of Golgi manganese homeostasis

Authors: Foulquier, François, Legrand, Dominique

Source: In BBA - General Subjects October 2020 1864(10)

SPCA1 governs the stability of TMEM165 in Hailey-Hailey disease

Authors: Roy, Anne-Sophie, Miskinyte, Snaigune, Garat, Anne, Hovnanian, Alain, Krzewinski-recchi, Marie-Ange, Foulquier, François

Source: In Biochimie July 2020 174:159-170

Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype

Authors: Blommaert, Eline, Péanne, Romain, Cherepanova, Natalia A., Rymen, Daisy, Staels, Frederik, Jaeken, Jaak, Race, Valérie, Keldermans, Liesbeth, Souche, Erika, Corveleyn, Anniek, Sparkes, Rebecca, Bhattacharya, Kaustuv, Devalck, Christine, Schrijvers, Rik, Foulquier, François, Gilmore, Reid, Matthijs, Gert

Source: Proceedings of the National Academy of Sciences of the United States of America, 2019 May . 116(20), 9865-9870.

Access URL: https://www.jstor.org/stable/26705225

Dissection of TMEM165 function in Golgi glycosylation and its Mn2+ sensitivity

Authors: Lebredonchel, Elodie, Houdou, Marine, Potelle, Sven, de Bettignies, Geoffroy, Schulz, Céline, Krzewinski Recchi, Marie-Ange, Lupashin, Vladimir, Legrand, Dominique, Klein, André, Foulquier, François

Source: In Biochimie October 2019 165:123-130

Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies

Authors: Haouari, Walid, Dubail, Johanne, Lounis‐Ouaras, Samra, Prada, Pierre, Bennani, Rizk, Roseau, Charles, Huber, Céline, Afenjar, Alexandra, Colin, Estelle, Vuillaumier‐Barrot, Sandrine, Seta, Nathalie, Foulquier, François, Poüs, Christian, Cormier‐Daire, Valérie, Bruneel, Arnaud

Source: Journal of inherited metabolic disease. 43(6):1349-1359

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100128476415.0x000001&indx=1&recIds=ETOCvdc_100128476415.0x000001