369 related articles for article (PubMed ID: 17220172)
1. A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation.
Foulquier F; Ungar D; Reynders E; Zeevaert R; Mills P; García-Silva MT; Briones P; Winchester B; Morelle W; Krieger M; Annaert W; Matthijs G
Hum Mol Genet; 2007 Apr; 16(7):717-30. PubMed ID: 17220172
[TBL] [Abstract][Full Text] [Related]
2. COG8 deficiency causes new congenital disorder of glycosylation type IIh.
Kranz C; Ng BG; Sun L; Sharma V; Eklund EA; Miura Y; Ungar D; Lupashin V; Winkel RD; Cipollo JF; Costello CE; Loh E; Hong W; Freeze HH
Hum Mol Genet; 2007 Apr; 16(7):731-41. PubMed ID: 17331980
[TBL] [Abstract][Full Text] [Related]
3. Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.
Paesold-Burda P; Maag C; Troxler H; Foulquier F; Kleinert P; Schnabel S; Baumgartner M; Hennet T
Hum Mol Genet; 2009 Nov; 18(22):4350-6. PubMed ID: 19690088
[TBL] [Abstract][Full Text] [Related]
4. Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.
Foulquier F; Vasile E; Schollen E; Callewaert N; Raemaekers T; Quelhas D; Jaeken J; Mills P; Winchester B; Krieger M; Annaert W; Matthijs G
Proc Natl Acad Sci U S A; 2006 Mar; 103(10):3764-9. PubMed ID: 16537452
[TBL] [Abstract][Full Text] [Related]
5. Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder.
Wu X; Steet RA; Bohorov O; Bakker J; Newell J; Krieger M; Spaapen L; Kornfeld S; Freeze HH
Nat Med; 2004 May; 10(5):518-23. PubMed ID: 15107842
[TBL] [Abstract][Full Text] [Related]
6. A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis.
Faid V; Chirat F; Seta N; Foulquier F; Morelle W
Proteomics; 2007 Jun; 7(11):1800-13. PubMed ID: 17520685
[TBL] [Abstract][Full Text] [Related]
7. Deficiency of the Cog8 subunit in normal and CDG-derived cells impairs the assembly of the COG and Golgi SNARE complexes.
Laufman O; Freeze HH; Hong W; Lev S
Traffic; 2013 Oct; 14(10):1065-77. PubMed ID: 23865579
[TBL] [Abstract][Full Text] [Related]
8. Genetic analysis of the subunit organization and function of the conserved oligomeric golgi (COG) complex: studies of COG5- and COG7-deficient mammalian cells.
Oka T; Vasile E; Penman M; Novina CD; Dykxhoorn DM; Ungar D; Hughson FM; Krieger M
J Biol Chem; 2005 Sep; 280(38):32736-45. PubMed ID: 16051600
[TBL] [Abstract][Full Text] [Related]
9. Mass spectrometry for congenital disorders of glycosylation, CDG.
Wada Y
J Chromatogr B Analyt Technol Biomed Life Sci; 2006 Jun; 838(1):3-8. PubMed ID: 16517226
[TBL] [Abstract][Full Text] [Related]
10. Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1.
Zeevaert R; Foulquier F; Dimitrov B; Reynders E; Van Damme-Lombaerts R; Simeonov E; Annaert W; Matthijs G; Jaeken J
Hum Mol Genet; 2009 Feb; 18(3):517-24. PubMed ID: 19008299
[TBL] [Abstract][Full Text] [Related]
11. Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation.
Zeevaert R; Foulquier F; Jaeken J; Matthijs G
Mol Genet Metab; 2008 Jan; 93(1):15-21. PubMed ID: 17904886
[TBL] [Abstract][Full Text] [Related]
12. IntraGolgi distribution of the Conserved Oligomeric Golgi (COG) complex.
Vasile E; Oka T; Ericsson M; Nakamura N; Krieger M
Exp Cell Res; 2006 Oct; 312(16):3132-41. PubMed ID: 16857184
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. A new mutation in COG7 extends the spectrum of COG subunit deficiencies.
Zeevaert R; Foulquier F; Cheillan D; Cloix I; Guffon N; Sturiale L; Garozzo D; Matthijs G; Jaeken J
Eur J Med Genet; 2009; 52(5):303-5. PubMed ID: 19577670
[TBL] [Abstract][Full Text] [Related]
15. Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of {beta}1,4-galactosyltransferase 1 and {alpha}2,6-sialyltransferase 1.
Peanne R; Legrand D; Duvet S; Mir AM; Matthijs G; Rohrer J; Foulquier F
Glycobiology; 2011 Jul; 21(7):864-76. PubMed ID: 21062782
[TBL] [Abstract][Full Text] [Related]
16. Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.
Wu X; Rush JS; Karaoglu D; Krasnewich D; Lubinsky MS; Waechter CJ; Gilmore R; Freeze HH
Hum Mutat; 2003 Aug; 22(2):144-50. PubMed ID: 12872255
[TBL] [Abstract][Full Text] [Related]
17. A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
Morava E; Zeevaert R; Korsch E; Huijben K; Wopereis S; Matthijs G; Keymolen K; Lefeber DJ; De Meirleir L; Wevers RA
Eur J Hum Genet; 2007 Jun; 15(6):638-45. PubMed ID: 17356545
[TBL] [Abstract][Full Text] [Related]
18. The first case of antenatal presentation in COG8-congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype.
Arora V; Puri RD; Bhai P; Sharma N; Bijarnia-Mahay S; Dimri N; Baijal A; Saxena R; Verma I
Am J Med Genet A; 2019 Mar; 179(3):480-485. PubMed ID: 30690882
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Golgi function and dysfunction in the first COG4-deficient CDG type II patient.
Reynders E; Foulquier F; Leão Teles E; Quelhas D; Morelle W; Rabouille C; Annaert W; Matthijs G
Hum Mol Genet; 2009 Sep; 18(17):3244-56. PubMed ID: 19494034
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
