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Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

Florence Molinari , Francois Foulquier , Patrick Tarpey , Willy Morelle , Sarah Boissel , et al.
American Journal of Human Genetics, 2008, 82 (5), pp.1150-1157. ⟨10.1016/j.ajhg.2008.03.021⟩
Article dans une revue hal-02142197v1

Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation

Peter Witters , Jeroen Breckpot , Francois Foulquier , Graem Preston , Jaak Jaeken , et al.
European Journal of Human Genetics, 2018, 26 (5), pp.618-621. ⟨10.1038/s41431-017-0044-8⟩
Article dans une revue hal-02399459v1
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Novel role for the Golgi membrane protein TMEM165 in control of migration and invasion for breast carcinoma

Pavitra Murali , Blake P. Johnson , Zhongpeng Lu , Leslie Climer , Danielle A. Scott , et al.
Oncotarget, 2020, 11 (28), pp.2747-2762. ⟨10.18632/oncotarget.27668⟩
Article dans une revue hal-03178870v1

Cohen syndrome is associated with major glycosylation defects

Laurence Duplomb , Sandrine Duvet , Damien Picot , Gaetan Jego , Salima El Chehadeh-Djebbar , et al.
Human Molecular Genetics, 2014, 23 (9), pp.2391 - 2399. ⟨10.1093/hmg/ddt630⟩
Article dans une revue hal-01687667v1

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation

Angel Ashikov , Nurulamin Abu Bakar , Xiao-Yan Wen , Marco Niemeijer , Glentino Rodrigues Pinto Osorio , et al.
Human Molecular Genetics, 2018, 27 (17), pp.3029-3045. ⟨10.1093/hmg/ddy213⟩
Article dans une revue hal-02399453v1
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Congenital disorders of glycosylation (CDG): Quo vadis ?

Romain Péanne , Pascale de Lonlay , Francois Foulquier , Uwe Kornak , Dirk J. Lefeber , et al.
European Journal of Medical Genetics, 2018, 61 (11), pp.643-663. ⟨10.1016/j.ejmg.2017.10.012⟩
Article dans une revue hal-03181211v1

The unfolded protein response in a dolichyl phosphate mannose-deficient Chinese hamster ovary cell line points out the key role of a demannosylation step in the quality-control mechanism of N-glycoproteins

Francois Foulquier , Anne Harduin-Lepers , Sandrine Duvet , Ingrid Marchal , Anne Marie Mir , et al.
Biochemical Journal, 2002, 362 (2), pp.491. ⟨10.1042/0264-6021:3620491⟩
Article dans une revue hal-02350712v1

A new mutation in COG7 extends the spectrum of COG subunit deficiencies.

Renate Zeevaert , François Foulquier , David Cheillan , Isabelle Cloix , Nathalie Guffon , et al.
European Journal of Medical Genetics, 2009, 52 (5), pp.303-5. ⟨10.1016/j.ejmg.2009.06.006⟩
Article dans une revue istex hal-00415800v1
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Insights into the regulation of cellular Mn2+ homeostasis via TMEM165

Dorothée Vicogne , Nicolas Beauval , Zoé Durin , Delphine Allorge , Kateryna Kondratska , et al.
Biochimica et Biophysica Acta - Molecular Basis of Disease, 2023, 1869 (6), pp.166717. ⟨10.1016/j.bbadis.2023.166717⟩
Article dans une revue hal-04143894v1

Heparan sulfate 3- O -sulfotransferase 2 (HS3ST2) displays an unexpected subcellular localization in the plasma membrane

Maxime Delos , Francois Foulquier , Charles Hellec , Dorothee Vicogne , Alexandre Fifre , et al.
Biochimica et Biophysica Acta (BBA) - General Subjects, 2018, Biochimica et Biophysica Acta (BBA) - General Subjects, 1862 (7), pp.1644-1655. ⟨10.1016/j.bbagen.2018.04.013⟩
Article dans une revue hal-03230591v1

Use of Endoglycosidase H as a diagnostic tool for MAN1B1‐CDG patients

Sandrine Duvet , Dounia Mouajjah , Romain Péanne , Gert Matthijs , Kimiyo Raymond , et al.
Electrophoresis, 2018, 39 (24), pp.3133-3141. ⟨10.1002/elps.201800020⟩
Article dans une revue hal-02399447v1

Investigating the functional link between TMEM165 and SPCA1

Elodie Lebredonchel , Marine Houdou , Hans-Heinrich Hoffmann , Kateryna Kondratska , Marie-Ange Krzewinski , et al.
Biochemical Journal, 2019, 476 (21), pp.3281-3293. ⟨10.1042/BCJ20190488⟩
Article dans une revue hal-02399430v1
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The extended cytoplasmic tail of the human B4GALNT2 is critical for its Golgi targeting and post-Golgi sorting

Sophie Groux-Degroote , Céline Schulz , Virginie Cogez , Maxence Noel , Lucie Portier , et al.
FEBS Journal, 2018, 285 (18), pp.3442-3463. ⟨10.1111/febs.14621⟩
Article dans une revue hal-01867603v1
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Metalloglycobiology: The power of metals in regulating glycosylation

Zoé Durin , Marine Houdou , Dominique Legrand , François Foulquier
Biochimica et Biophysica Acta (BBA) - General Subjects, 2023, 1867 (9), pp.130412. ⟨10.1016/j.bbagen.2023.130412⟩
Article dans une revue hal-04143878v1

Chemical glycomics enrichment: imaging the recycling of sialic acid in living cells

Pierre André Gilormini , Cédric Lion , Dorothée Vicogne , Yann Guerardel , Francois Foulquier , et al.
Journal of Inherited Metabolic Disease, 2018, 41 (3), pp.515-523. ⟨10.1007/s10545-017-0118-3⟩
Article dans une revue hal-02371922v1

Glycosylation disorders of membrane trafficking

Claire Rosnoblet , Romain Péanne , Dominique Legrand , Francois Foulquier
Glycoconjugate Journal, 2013, Glycoconjugate journal, 30 (1), pp.23-31. ⟨10.1007/s10719-012-9389-y⟩
Article dans une revue istex hal-03158962v1

Alkynyl monosaccharide analogues as a tool for evaluating Golgi glycosylation efficiency: application to Congenital Disorders of Glycosylation (CDG)

Jorick Vanbeselaere , Dorothee Vicogne , Gert Matthijs , Christophe Biot , Francois Foulquier , et al.
Chemical Communications, 2013, Chemical Communications (Cambridge, England), 49 (96), pp.11293-11295. ⟨10.1039/c3cc45914d⟩
Article dans une revue hal-03157338v1

COG defects, birth and rise!

François Foulquier
Biochimica et Biophysica Acta - Molecular Cell Research, 2008, epub ahead of print. ⟨10.1016/j.bbadis.2008.10.020⟩
Article dans une revue istex hal-00415803v1
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Anomalies congénitales de la glycosylation (CDG)

Marine Houdou , François Foulquier
Médecine/Sciences, 2020, 36 (8-9), pp.735-746. ⟨10.1051/medsci/2020128⟩
Article dans une revue hal-02919329v1
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MAN1B1 deficiency: an unexpected CDG-II

Daisy Rymen , Romain Péanne , María B. Millón , Valérie Race , Luisa Sturiale , et al.
PLoS Genetics, 2013, 9 (12), pp.e1003989. ⟨10.1371/journal.pgen.1003989⟩
Article dans une revue hal-03159404v1

Golgi function and dysfunction in the first COG4-deficient CDG type II patient.

Ellen Reynders , François Foulquier , Elisa Leão Teles , Dulce Quelhas , Willy Morelle , et al.
Human Molecular Genetics, 2009, 18 (17), pp.3244-56. ⟨10.1093/hmg/ddp262⟩
Article dans une revue hal-00415801v1

O-beta-N-acetylglucosaminylation modulates the binding specificity of Odorant-Binding Protein to social odors and pheromones

Alexandre Joly , Marine Houdou , Corentin Spriet , François Foulquier , Patricia Nagnan-Le Meillour
25th international Symposium on Glycoconjugates, Aug 2019, Milan, Italy
Communication dans un congrès hal-03341110v1
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Dissection of TMEM165 function in Golgi glycosylation and its Mn2+ sensitivity

Elodie Lebredonchel , Marine Houdou , Sven Potelle , Geoffroy de Bettignies , Céline Schulz , et al.
Biochimie, 2019, 165, pp.123-130. ⟨10.1016/j.biochi.2019.07.016⟩
Article dans une revue hal-02390802v1

Oral D-galactose supplementation in PGM1-CDG

Sunnie Wong , Therese Gadomski , Monique van Scherpenzeel , Tomas Honzik , Hana Hansikova , et al.
Genetics in Medicine, 2017, Genetics in Medicine. Official Journal of the American College of Medical Genetics, 19 (11), pp.1226-1235. ⟨10.1038/gim.2017.41⟩
Article dans une revue hal-03174615v1

Protein N-glycosylation alteration and glycolysis inhibition both contribute to the antiproliferative action of 2-deoxyglucose in breast cancer cells

Audrey Berthe , Marie Zaffino , Claire Muller , Francois Foulquier , Marine Houdou , et al.
Breast Cancer Research and Treatment, 2018, 171 (3), pp.581-591. ⟨10.1007/s10549-018-4874-z⟩
Article dans une revue hal-01946142v1

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

Eline Blommaert , Romain Péanne , Natalia Cherepanova , Daisy Rymen , Frederik Staels , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019, pp.201817815. ⟨10.1073/pnas.1817815116⟩
Article dans une revue hal-02399438v1

Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells

Didier Demaegd , Francois Foulquier , Anne-Sophie Colinet , Louis Gremillon , Dominique Legrand , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013, Proceedings of the National Academy of Sciences of the United States of America, 110 (17), pp.6859-6864. ⟨10.1073/pnas.1219871110⟩
Article dans une revue hal-03159522v1

Hypothesis: lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG

Hanneke A. Haijes , Jaak Jaeken , Francois Foulquier , Peter M. van Hasselt
Journal of Medical Genetics, 2018, Journal of medical genetics, 55 (2), pp.137-142. ⟨10.1136/jmedgenet-2017-104586⟩
Article dans une revue hal-03173349v1

Fetal bovine serum impacts the observed N‐glycosylation defects in TMEM165 KO HEK cells

Dorothée Vicogne , Marine Houdou , Anne Garat , Leslie Climer , Vladimir Lupashin , et al.
Journal of Inherited Metabolic Disease, 2019, ⟨10.1002/jimd.12161⟩
Article dans une revue hal-02399421v1

A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1–Cog8 interaction in COG complex formation

François Foulquier , Daniel Ungar , Ellen Reynders , Renate Zeevaert , Philippa Mills , et al.
Human Molecular Genetics, 2007, 16 (7), pp.717-730
Article dans une revue hal-00168242v1