BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

187 related articles for article (PubMed ID: 24153356)

  • 1. Alkynyl monosaccharide analogues as a tool for evaluating Golgi glycosylation efficiency: application to Congenital Disorders of Glycosylation (CDG).
    Vanbeselaere J; Vicogne D; Matthijs G; Biot C; Foulquier F; Guerardel Y
    Chem Commun (Camb); 2013 Dec; 49(96):11293-5. PubMed ID: 24153356
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Assessing ER and Golgi N-glycosylation process using metabolic labeling in mammalian cultured cells.
    Péanne R; Vanbeselaere J; Vicogne D; Mir AM; Biot C; Matthijs G; Guérardel Y; Foulquier F
    Methods Cell Biol; 2013; 118():157-76. PubMed ID: 24295306
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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.
    Dulary E; Potelle S; Legrand D; Foulquier F
    Tissue Cell; 2017 Apr; 49(2 Pt A):150-156. PubMed ID: 27401145
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Congenital disorders of glycosylation: sweet news.
    Theodore M; Morava E
    Curr Opin Pediatr; 2011 Dec; 23(6):581-7. PubMed ID: 21970833
    [TBL] [Abstract][Full Text] [Related]  

  • 5. N-Glycosylation of Serum IgG and Total Glycoproteins in MAN1B1 Deficiency.
    Saldova R; Stöckmann H; O'Flaherty R; Lefeber DJ; Jaeken J; Rudd PM
    J Proteome Res; 2015 Oct; 14(10):4402-12. PubMed ID: 26401844
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
    Radenkovic S; Bird MJ; Emmerzaal TL; Wong SY; Felgueira C; Stiers KM; Sabbagh L; Himmelreich N; Poschet G; Windmolders P; Verheijen J; Witters P; Altassan R; Honzik T; Eminoglu TF; James PM; Edmondson AC; Hertecant J; Kozicz T; Thiel C; Vermeersch P; Cassiman D; Beamer L; Morava E; Ghesquière B
    Am J Hum Genet; 2019 May; 104(5):835-846. PubMed ID: 30982613
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Congenital disorders of glycosylation: a concise chart of glycocalyx dysfunction.
    Hennet T; Cabalzar J
    Trends Biochem Sci; 2015 Jul; 40(7):377-84. PubMed ID: 25840516
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital disorders of glycosylation. Part I. Defects of protein N-glycosylation.
    Cylwik B; Naklicki M; Chrostek L; Gruszewska E
    Acta Biochim Pol; 2013; 60(2):151-61. PubMed ID: 23730680
    [TBL] [Abstract][Full Text] [Related]  

  • 9. High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation.
    van Scherpenzeel M; Steenbergen G; Morava E; Wevers RA; Lefeber DJ
    Transl Res; 2015 Dec; 166(6):639-649.e1. PubMed ID: 26307094
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Golgi inCOGnito: From vesicle tethering to human disease.
    D'Souza Z; Taher FS; Lupashin VV
    Biochim Biophys Acta Gen Subj; 2020 Nov; 1864(11):129694. PubMed ID: 32730773
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Congenital disorders of glycosylation.
    Jaeken J
    Handb Clin Neurol; 2013; 113():1737-43. PubMed ID: 23622397
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A new method for the rapid diagnosis of protein N-linked congenital disorders of glycosylation.
    Heywood WE; Mills P; Grunewald S; Worthington V; Jaeken J; Carreno G; Lemonde H; Clayton PT; Mills K
    J Proteome Res; 2013 Jul; 12(7):3471-9. PubMed ID: 23742123
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.
    Spaapen LJ; Bakker JA; van der Meer SB; Sijstermans HJ; Steet RA; Wevers RA; Jaeken J
    J Inherit Metab Dis; 2005; 28(5):707-14. PubMed ID: 16151902
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis.
    Wang Y; Tan J; Sutton-Smith M; Ditto D; Panico M; Campbell RM; Varki NM; Long JM; Jaeken J; Levinson SR; Wynshaw-Boris A; Morris HR; Le D; Dell A; Schachter H; Marth JD
    Glycobiology; 2001 Dec; 11(12):1051-70. PubMed ID: 11805078
    [TBL] [Abstract][Full Text] [Related]  

  • 15. How Golgi glycosylation meets and needs trafficking: the case of the COG complex.
    Reynders E; Foulquier F; Annaert W; Matthijs G
    Glycobiology; 2011 Jul; 21(7):853-63. PubMed ID: 21112967
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology.
    Ng BG; Freeze HH; Himmelreich N; Blau N; Ferreira CR
    Mol Genet Metab; 2024 May; 142(1):108476. PubMed ID: 38653092
    [TBL] [Abstract][Full Text] [Related]  

  • 17. COG7 deficiency in
    Frappaolo A; Sechi S; Kumagai T; Robinson S; Fraschini R; Karimpour-Ghahnavieh A; Belloni G; Piergentili R; Tiemeyer KH; Tiemeyer M; Giansanti MG
    J Cell Sci; 2017 Nov; 130(21):3637-3649. PubMed ID: 28883096
    [TBL] [Abstract][Full Text] [Related]  

  • 18. What is new in CDG?
    Jaeken J; Péanne R
    J Inherit Metab Dis; 2017 Jul; 40(4):569-586. PubMed ID: 28484880
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.
    Lübbehusen J; Thiel C; Rind N; Ungar D; Prinsen BH; de Koning TJ; van Hasselt PM; Körner C
    Hum Mol Genet; 2010 Sep; 19(18):3623-33. PubMed ID: 20605848
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Congenital disorders of glycosylation.
    Jaeken J; Matthijs G
    Annu Rev Genomics Hum Genet; 2001; 2():129-51. PubMed ID: 11701646
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.