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Results: 1 to 20 of 92

1.

Golgi glycosylation and human inherited diseases.

Freeze HH, Ng BG.

Cold Spring Harb Perspect Biol. 2011 Sep 1;3(9):a005371. doi: 10.1101/cshperspect.a005371. Review.

PMID:
21709180
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review.

Wopereis S, Lefeber DJ, Morava E, Wevers RA.

Clin Chem. 2006 Apr;52(4):574-600. Epub 2006 Feb 23. Review.

PMID:
16497938
[PubMed - indexed for MEDLINE]
Free Article
3.

Genetic defects in the human glycome.

Freeze HH.

Nat Rev Genet. 2006 Jul;7(7):537-51. Epub 2006 Jun 6. Review. Erratum in: Nat Rev Genet. 2006 Aug;7(8):660.

PMID:
16755287
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
Free Article
5.

Altered glycan structures: the molecular basis of congenital disorders of glycosylation.

Freeze HH, Aebi M.

Curr Opin Struct Biol. 2005 Oct;15(5):490-8. Review.

PMID:
16154350
[PubMed - indexed for MEDLINE]
6.

Congenital disorders of glycosylation: a review.

Grunewald S, Matthijs G, Jaeken J.

Pediatr Res. 2002 Nov;52(5):618-24. Review.

PMID:
12409504
[PubMed - indexed for MEDLINE]
7.

Role of the conserved oligomeric Golgi (COG) complex in protein glycosylation.

Smith RD, Lupashin VV.

Carbohydr Res. 2008 Aug 11;343(12):2024-31. doi: 10.1016/j.carres.2008.01.034. Epub 2008 Feb 2. Review.

PMID:
18353293
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.

Leroy JG.

Pediatr Res. 2006 Dec;60(6):643-56. Epub 2006 Oct 25. Review.

PMID:
17065563
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
16537452
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Congenital disorders of glycosylation: a booming chapter of pediatrics.

Jaeken J, Carchon H.

Curr Opin Pediatr. 2004 Aug;16(4):434-9. Review.

PMID:
15273506
[PubMed - indexed for MEDLINE]
13.

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. Epub 2013 May 31. Review.

PMID:
23730680
[PubMed - indexed for MEDLINE]
Free Article
14.

[Congenital disorders of glycosylation: state of the art and Spanish experience].

Vilaseca MA, Artuch R, Briones P.

Med Clin (Barc). 2004 May 15;122(18):707-16. Review. Spanish.

PMID:
15171833
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
Free Article
16.

A COG in the sugar machine.

Marquardt T.

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

PMID:
15122242
[PubMed - indexed for MEDLINE]
17.

Golgi glycosylation.

Stanley P.

Cold Spring Harb Perspect Biol. 2011 Apr 1;3(4). pii: a005199. doi: 10.1101/cshperspect.a005199. Review.

PMID:
21441588
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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.

PMID:
19028570
[PubMed - indexed for MEDLINE]
Free Article
19.

[Genes responsible for sugar chain synthesis in yeast].

Yoko-o T, Abe H, Jigami Y.

Tanpakushitsu Kakusan Koso. 2003 Jun;48(8 Suppl):1002-9. Review. Japanese. No abstract available.

PMID:
12807002
[PubMed - indexed for MEDLINE]
20.

Therapies and therapeutic approaches in Congenital Disorders of Glycosylation.

Thiel C, K├Ârner C.

Glycoconj J. 2013 Jan;30(1):77-84. doi: 10.1007/s10719-012-9447-5. Epub 2012 Sep 16. Review.

PMID:
22983739
[PubMed - indexed for MEDLINE]
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