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Items: 1 to 20 of 284

1.

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.

PMID:
17331980
2.

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.

PMID:
17220172
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 15;18(22):4350-6. doi: 10.1093/hmg/ddp389. Epub 2009 Aug 18.

PMID:
19690088
4.

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.

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. Epub 2004 Apr 25.

PMID:
15107842
6.

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.

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

8.

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.

PMID:
20605848
9.

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.

10.

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. Epub 2007 Mar 14. Erratum in: Eur J Hum Genet. 2007 Jul;15(7):819.

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.

PMID:
21062782
12.

Identification of the first COG-CDG patient of Indian origin.

Ng BG, Sharma V, Sun L, Loh E, Hong W, Tay SK, Freeze HH.

Mol Genet Metab. 2011 Mar;102(3):364-7. doi: 10.1016/j.ymgme.2010.11.161. Epub 2010 Nov 24.

13.

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 Sep-Oct;52(5):303-5. doi: 10.1016/j.ejmg.2009.06.006. Epub 2009 Jul 3.

PMID:
19577670
14.

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
15.

COG-7-deficient Human Fibroblasts Exhibit Altered Recycling of Golgi Proteins.

Steet R, Kornfeld S.

Mol Biol Cell. 2006 May;17(5):2312-21. Epub 2006 Mar 1.

16.

Molecular and clinical characterization of a Moroccan Cog7 deficient patient.

Ng BG, Kranz C, Hagebeuk EE, Duran M, Abeling NG, Wuyts B, Ungar D, Lupashin V, Hartdorff CM, Poll-The BT, Freeze HH.

Mol Genet Metab. 2007 Jun;91(2):201-4. Epub 2007 Mar 28.

17.

Mislocalization of large ARF-GEFs as a potential mechanism for BFA resistance in COG-deficient cells.

Flanagan-Steet H, Johnson S, Smith RD, Bangiyeva J, Lupashin V, Steet R.

Exp Cell Res. 2011 Oct 1;317(16):2342-52. doi: 10.1016/j.yexcr.2011.06.005. Epub 2011 Jun 22.

18.

Mass spectrometry for congenital disorders of glycosylation, CDG.

Wada Y.

J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Jun 21;838(1):3-8. Epub 2006 Mar 6. Review. Erratum in: J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Aug 18;840(2):146.

PMID:
16517226
19.

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.

PMID:
20080937
20.

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

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