Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Eudoxie Dulary"'
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, 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
Publikováno v:
Tissuecell. 49(2 Pt)
Congenital Disorders of Glycosylation (CDG) are rare inherited diseases causing glycosylation defects responsible for severe growth and psychomotor retardations in patients. Whereas most genetic defects affect enzymes directly involved in the glycosy