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Items: 1 to 20 of 309

1.

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 1;18(17):3244-56. doi: 10.1093/hmg/ddp262. Epub 2009 Jun 3.

2.

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 7;103(10):3764-9. Epub 2006 Feb 28.

3.

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. Epub 2004 Apr 25.

PMID:
15107842
4.

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 1;16(7):717-30. Epub 2007 Jan 12.

5.

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 1;16(7):731-41. Epub 2007 Mar 1.

6.

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. doi: 10.1111/tra.12093. Epub 2013 Jul 31.

7.

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 15;18(22):4350-6. doi: 10.1093/hmg/ddp389. Epub 2009 Aug 18.

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 23;280(38):32736-45. Epub 2005 Jul 28.

9.

Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.

Lübke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Körner C.

Nat Genet. 2001 May;28(1):73-6.

PMID:
11326280
10.

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.

PMID:
16151902
11.

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. doi: 10.1093/glycob/cwq176. Epub 2010 Nov 8.

12.

COG defects, birth and rise!

Foulquier F.

Biochim Biophys Acta. 2009 Sep;1792(9):896-902. doi: 10.1016/j.bbadis.2008.10.020. Epub 2008 Nov 6. Review.

13.

A COG in the sugar machine.

Marquardt T.

Nat Med. 2004 May;10(5):457-8. No abstract available.

PMID:
15122242
14.

Conserved oligomeric Golgi complex specifically regulates the maintenance of Golgi glycosylation machinery.

Pokrovskaya ID, Willett R, Smith RD, Morelle W, Kudlyk T, Lupashin VV.

Glycobiology. 2011 Dec;21(12):1554-69. doi: 10.1093/glycob/cwr028. Epub 2011 Mar 18.

15.

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 15;19(18):3623-33. doi: 10.1093/hmg/ddq278. Epub 2010 Jul 6.

16.
17.

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. Epub 2007 Sep 29. Review.

PMID:
17904886
18.

Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb).

Völker C, De Praeter CM, Hardt B, Breuer W, Kalz-Füller B, Van Coster RN, Bause E.

Glycobiology. 2002 Aug;12(8):473-83.

19.

Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease.

Pérez-Cerdá C, Quelhas D, Vega AI, Ecay J, Vilarinho L, Ugarte M.

Clin Chem. 2008 Jan;54(1):93-100. Epub 2007 Nov 16.

20.

A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.

Rind N, Schmeiser V, Thiel C, Absmanner B, Lübbehusen J, Hocks J, Apeshiotis N, Wilichowski E, Lehle L, Körner C.

Hum Mol Genet. 2010 Apr 15;19(8):1413-24. doi: 10.1093/hmg/ddq016. Epub 2010 Jan 15.

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