Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Sven Potelle"'
Autor:
Nuno Maia, Sven Potelle, Hamide Yildirim, Sandrine Duvet, Shyam K. Akula, Celine Schulz, Elsa Wiame, Alexander Gheldof, Katherine O’Kane, Abbe Lai, Karen Sermon, Maïa Proisy, Philippe Loget, Tania Attié-Bitach, Chloé Quelin, Ana Maria Fortuna, Ana Rita Soares, Arjan P.M. de Brouwer, Emile Van Schaftingen, Marie-Cécile Nassogne, Christopher A. Walsh, Katrien Stouffs, Paula Jorge, Anna C. Jansen, François Foulquier
Publikováno v:
American Journal of Human Genetics, 109, 2, pp. 345-360
American Journal of Human Genetics, 109, 345-360
American Journal of Human Genetics
American Journal of Human Genetics, 2022, The American Journal of Human Genetics, 109, ⟨10.1016/j.ajhg.2021.12.010⟩
American Journal of Human Genetics, 109, 345-360
American Journal of Human Genetics
American Journal of Human Genetics, 2022, The American Journal of Human Genetics, 109, ⟨10.1016/j.ajhg.2021.12.010⟩
International audience; Free oligosaccharides (fOSs) are soluble oligosaccharide species generated during N-glycosylation of proteins. Although little is knownabout fOS metabolism, the recent identification of NGLY1 deficiency, a congenital disorder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ade79422f56e0a567e70b2ea5e783406
https://biblio.vub.ac.be/vubir/impaired-catabolism-of-free-oligosaccharides-due-to-man2c1-variants-causes-a-neurodevelopmental-disorder(96caf5ec-f9c4-429e-bb48-d636ee0ac948).html
https://biblio.vub.ac.be/vubir/impaired-catabolism-of-free-oligosaccharides-due-to-man2c1-variants-causes-a-neurodevelopmental-disorder(96caf5ec-f9c4-429e-bb48-d636ee0ac948).html
Publikováno v:
Journal of Biological Chemistry
The Journal of Biological Chemistry
The Journal of Biological Chemistry
The glycoprotein α-dystroglycan helps to link the intracellular cytoskeleton to the extracellular matrix. A unique glycan structure attached to this protein is required for its interaction with extracellular matrix proteins such as laminin. Up to no
Autor:
Pernille Mathiesen Tørring, Stephen Nelson, Martin Fleger, Sven Potelle, Guido T. Bommer, Charlotte Brasch-Andersen, Ulrich A. Schatz, Maria Veiga-da-Cunha, Nathalie Chevalier, Matthias Baumann, Eva Morava, Emile Van Schaftingen, Silvia Radenkovic, Mary Alice Abbott, Ulrike Dunkhase-Heinl, Tobias B. Haack
Publikováno v:
American Journal of Human Genetics
American journal of human genetics, Vol. 108, no.6, p. 1151-1160 (2021)
Morava, E, Schatz, U A, Torring, P M, Abbott, M A, Baumann, M, Brasch-Andersen, C, Chevalier, N, Dunkhase-Heinl, U, Fleger, M, Haack, T B, Nelson, S, Potelle, S, Radenkovic, S, Bommer, G T, Van Schaftingen, E & Veiga-da-Cunha, M 2021, ' Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1151-1160 . https://doi.org/10.1016/j.ajhg.2021.04.017
American journal of human genetics, Vol. 108, no.6, p. 1151-1160 (2021)
Morava, E, Schatz, U A, Torring, P M, Abbott, M A, Baumann, M, Brasch-Andersen, C, Chevalier, N, Dunkhase-Heinl, U, Fleger, M, Haack, T B, Nelson, S, Potelle, S, Radenkovic, S, Bommer, G T, Van Schaftingen, E & Veiga-da-Cunha, M 2021, ' Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1151-1160 . https://doi.org/10.1016/j.ajhg.2021.04.017
We describe a genetic syndrome due to PGM2L1 deficiency. PGM2 and PGM2L1 make hexose-bisphosphates, like glucose-1,6-bisphosphate, which are indispensable cofactors for sugar phosphomutases. These enzymes form the hexose-1-phosphates crucial for NDP-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97207603551ef8c236a1b59cb1368c39
https://mediatum.ub.tum.de/1616866
https://mediatum.ub.tum.de/1616866
Autor:
Eudoxie Dulary, Thorsten Marquardt, Willy Morelle, Marie-Ange Krzewinski-Recchi, Marine Houdou, Romain Péanne, Corentin Spriet, Dorothée Vicogne, André Klein, François Foulquier, Geoffroy de Bettignies, Vladimir Lupashin, Sven Potelle, Sandrine Duvet, Leslie K. Climer, Gert Matthijs, Pierre Morsomme, Elodie Lebredonchel
Publikováno v:
Biochemical Journal
Biochemical Journal, 2017, 474 (9), pp.1481-1493. ⟨10.1042/BCJ20160910⟩
Biochemical Journal, 2017, 474 (9), pp.1481-1493. ⟨10.1042/BCJ20160910⟩
International audience; TMEM165 deficiencies lead to one of the congenital disorders of glycosylation (CDG), a group of inherited diseases where the glycosylation process is altered. We recently demonstrated that the Golgi glycosylation defect due to
Autor:
Anne-Marie Mir, François Foulquier, Marie-Ange Krzewinski-Recchi, Eudoxie Dulary, Willy Morelle, Dorothée Vicogne, Geoffroy de Bettignies, Sven Potelle, Sandrine Duvet
Publikováno v:
BBA-Biochimica et Biophysica Acta
BBA-Biochimica et Biophysica Acta, 2017, Biochimica et biophysica acta, 1861 (4), pp.737-748. ⟨10.1016/j.bbagen.2017.01.011⟩
BBA-Biochimica et Biophysica Acta, Elsevier, 2017, Biochimica et biophysica acta, 1861 (4), pp.737-748. ⟨10.1016/j.bbagen.2017.01.011⟩
BBA-Biochimica et Biophysica Acta, 2017, Biochimica et biophysica acta, 1861 (4), pp.737-748. ⟨10.1016/j.bbagen.2017.01.011⟩
BBA-Biochimica et Biophysica Acta, Elsevier, 2017, Biochimica et biophysica acta, 1861 (4), pp.737-748. ⟨10.1016/j.bbagen.2017.01.011⟩
International audience; BACKGROUND: Defects in TMEM165 gene cause a type-II Congenital Disorder of Glycosylation affecting Golgi glycosylation processes. TMEM165 patients exhibit psychomotor retardation, important osteoporosis, scoliosis, irregular e
Autor:
Gert Matthijs, Eva Morava, Leslie K. Climer, Sunnie Wong, Willy Morelle, Vladimir Lupashin, Peter Witters, David Cassiman, Sven Potelle, Therese Gadomski, François Foulquier, Jaak Jaeken
Publikováno v:
The Journal of clinical endocrinology & metabolism
The Journal of clinical endocrinology & metabolism, 2017, The Journal of clinical endocrinology and metabolism, 102 (4), pp.1375-1386. ⟨10.1210/jc.2016-3443⟩
The Journal of clinical endocrinology & metabolism, 2017, The Journal of clinical endocrinology and metabolism, 102 (4), pp.1375-1386. ⟨10.1210/jc.2016-3443⟩
International audience; Context: TMEM165 deficiency is a severe multisystem disease that manifests with metabolic, endocrine, and skeletal involvement. It leads to one type of congenital disorders of glycosylation (CDG), a rapidly growing group of in
Autor:
Elodie, Lebredonchel, Marine, Houdou, Sven, Potelle, Geoffroy, de Bettignies, Céline, Schulz, Marie-Ange, Krzewinski Recchi, Vladimir, Lupashin, Dominique, Legrand, André, Klein, François, Foulquier
Publikováno v:
Biochimie. 165
Since 2012, the interest for TMEM165 increased due to its implication in a rare genetic human disease named TMEM165-CDG (Congenital Disorder(s) of Glycosylation). TMEM165 is a Golgi localized protein, highly conserved through evolution and belonging
Autor:
André Klein, Valérie Decool, Elodie Lebredonchel, Sandrine Duvet, Anne Garat, Marine Houdou, François Foulquier, Mohamed Ouzzine, Dominique Legrand, Sven Potelle, Bruno Gasnier
Publikováno v:
FASEB Journal
FASEB Journal, 2019, 33 (2), pp.2669-2679. ⟨10.1096/fj.201800387R⟩
FASEB Journal, Federation of American Society of Experimental Biology, 2019, 33 (2), pp.2669-2679. ⟨10.1096/fj.201800387R⟩
FASEB Journal, 2019, 33 (2), pp.2669-2679. ⟨10.1096/fj.201800387R⟩
FASEB Journal, Federation of American Society of Experimental Biology, 2019, 33 (2), pp.2669-2679. ⟨10.1096/fj.201800387R⟩
International audience; Congenital disorders of glycosylation are severe inherited diseases in which aberrant protein glycosylation is a hallmark. Transmembrane protein 165 (TMEM165) is a novel Golgi transmembrane protein involved in type II congenit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fc990d51c4635f878dd96602737e1de
https://hal.science/hal-02390809
https://hal.science/hal-02390809
Autor:
Marine, Houdou, Elodie, Lebredonchel, Anne, Garat, Sandrine, Duvet, Dominique, Legrand, Valérie, Decool, André, Klein, Mohamed, Ouzzine, Bruno, Gasnier, Sven, Potelle, François, Foulquier
Publikováno v:
FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 33(2)
Congenital disorders of glycosylation are severe inherited diseases in which aberrant protein glycosylation is a hallmark. Transmembrane protein 165 (TMEM165) is a novel Golgi transmembrane protein involved in type II congenital disorders of glycosyl
Autor:
Gert Matthijs, Valérie Decool, Sven Potelle, Marine Houdou, Eudoxie Dulary, Sandrine Duvet, Yann Guérardel, François Foulquier, Marie-Ange Krzewinski-Recchi, Shin-Yi Yu, Geoffroy de Bettignies, Anne Garat
Publikováno v:
Biochimica et Biophysica Acta (BBA)-General Subjects
Biochimica et Biophysica Acta (BBA)-General Subjects, Elsevier, 2018, 1862 (3), pp.394-402. ⟨10.1016/j.bbagen.2017.11.006⟩
Biochimica et Biophysica Acta (BBA)-General Subjects, 2018, 1862 (3), pp.394-402. ⟨10.1016/j.bbagen.2017.11.006⟩
Biochimica et Biophysica Acta (BBA)-General Subjects, Elsevier, 2018, 1862 (3), pp.394-402. ⟨10.1016/j.bbagen.2017.11.006⟩
Biochimica et Biophysica Acta (BBA)-General Subjects, 2018, 1862 (3), pp.394-402. ⟨10.1016/j.bbagen.2017.11.006⟩
The Golgi ion homeostasis is tightly regulated to ensure essential cellular processes such as glycosylation, yet our understanding of this regulation remains incomplete. Gdt1p is a member of the conserved Uncharacterized Protein Family (UPF0016). Our
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66cc36d00669252522f3cccd2513f03d
https://hal.archives-ouvertes.fr/hal-02371931
https://hal.archives-ouvertes.fr/hal-02371931