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Items: 1 to 20 of 144

1.

COG5-CDG: expanding the clinical spectrum.

Rymen D, Keldermans L, Race V, Régal L, Deconinck N, Dionisi-Vici C, Fung CW, Sturiale L, Rosnoblet C, Foulquier F, Matthijs G, Jaeken J.

Orphanet J Rare Dis. 2012 Dec 10;7:94. doi: 10.1186/1750-1172-7-94. Erratum in: Orphanet J Rare Dis. 2013;8:120.

2.

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
3.

Key features and clinical variability of COG6-CDG.

Rymen D, Winter J, Van Hasselt PM, Jaeken J, Kasapkara C, Gokçay G, Haijes H, Goyens P, Tokatli A, Thiel C, Bartsch O, Hecht J, Krawitz P, Prinsen HC, Mildenberger E, Matthijs G, Kornak U.

Mol Genet Metab. 2015 Nov;116(3):163-70. doi: 10.1016/j.ymgme.2015.07.003. Epub 2015 Jul 29.

PMID:
26260076
4.

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.

5.

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.

6.

COG5-CDG with a Mild Neurohepatic Presentation.

Fung CW, Matthijs G, Sturiale L, Garozzo D, Wong KY, Wong R, Wong V, Jaeken J.

JIMD Rep. 2012;3:67-70. doi: 10.1007/8904_2011_61. Epub 2011 Sep 22.

7.

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.

Kodera H, Ando N, Yuasa I, Wada Y, Tsurusaki Y, Nakashima M, Miyake N, Saitoh S, Matsumoto N, Saitsu H.

Clin Genet. 2015 May;87(5):455-60. doi: 10.1111/cge.12417. Epub 2014 May 24.

PMID:
24784932
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.

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. doi: 10.1093/glycob/cwq179. Epub 2010 Nov 26. Review.

PMID:
21112967
10.

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
11.

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
12.

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
13.

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
14.

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
15.

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ.

Ann Neurol. 2012 Oct;72(4):550-8. doi: 10.1002/ana.23632.

PMID:
23109149
16.

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.

17.

MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG.

Palmigiano A, Bua RO, Barone R, Rymen D, Régal L, Deconinck N, Dionisi-Vici C, Fung CW, Garozzo D, Jaeken J, Sturiale L.

J Mass Spectrom. 2017 Jun;52(6):372-377. doi: 10.1002/jms.3936.

PMID:
28444691
18.

Comparative analyses of the Conserved Oligomeric Golgi (COG) complex in vertebrates.

Quental R, Azevedo L, Matthiesen R, Amorim A.

BMC Evol Biol. 2010 Jul 15;10:212. doi: 10.1186/1471-2148-10-212.

19.

SRD5A3-CDG: a patient with a novel mutation.

Kasapkara CS, Tümer L, Ezgü FS, Hasanoğlu A, Race V, Matthijs G, Jaeken J.

Eur J Paediatr Neurol. 2012 Sep;16(5):554-6. doi: 10.1016/j.ejpn.2011.12.011. Epub 2012 Jan 10.

PMID:
22240719
20.

Cog5-Cog7 crystal structure reveals interactions essential for the function of a multisubunit tethering complex.

Ha JY, Pokrovskaya ID, Climer LK, Shimamura GR, Kudlyk T, Jeffrey PD, Lupashin VV, Hughson FM.

Proc Natl Acad Sci U S A. 2014 Nov 4;111(44):15762-7. doi: 10.1073/pnas.1414829111. Epub 2014 Oct 20.

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