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Items: 1 to 20 of 202

1.

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
2.

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
3.

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.

4.

Mass spectrometry in the characterization of human genetic N-glycosylation defects.

Barone R, Sturiale L, Garozzo D.

Mass Spectrom Rev. 2009 May-Jun;28(3):517-42. doi: 10.1002/mas.20201.

PMID:
18844296
5.

The repertoire of glycan determinants in the human glycome.

Cummings RD.

Mol Biosyst. 2009 Oct;5(10):1087-104. doi: 10.1039/b907931a. Epub 2009 Jul 28. Review.

PMID:
19756298
6.
7.

Sweet spots in functional glycomics.

Paulson JC, Blixt O, Collins BE.

Nat Chem Biol. 2006 May;2(5):238-48. Review.

PMID:
16619023
8.

Defective protein glycosylation in patients with cutis laxa syndrome.

Morava E, Wopereis S, Coucke P, Gillessen-Kaesbach G, Voit T, Smeitink J, Wevers R, Grünewald S.

Eur J Hum Genet. 2005 Apr;13(4):414-21.

9.

Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis.

Butler M, Quelhas D, Critchley AJ, Carchon H, Hebestreit HF, Hibbert RG, Vilarinho L, Teles E, Matthijs G, Schollen E, Argibay P, Harvey DJ, Dwek RA, Jaeken J, Rudd PM.

Glycobiology. 2003 Sep;13(9):601-22. Epub 2003 May 28.

PMID:
12773475
10.

Analytical strategies to investigate plant N-glycan profiles in the context of plant-made pharmaceuticals.

Bardor M, Cabrera G, Rudd PM, Dwek RA, Cremata JA, Lerouge P.

Curr Opin Struct Biol. 2006 Oct;16(5):576-83. Epub 2006 Sep 11. Review.

PMID:
16963259
11.

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
12.

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.

13.

Protein glycosylation pathways in filamentous fungi.

Deshpande N, Wilkins MR, Packer N, Nevalainen H.

Glycobiology. 2008 Aug;18(8):626-37. doi: 10.1093/glycob/cwn044. Epub 2008 May 26.

PMID:
18504293
14.

Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I.

Callewaert N, Schollen E, Vanhecke A, Jaeken J, Matthijs G, Contreras R.

Glycobiology. 2003 May;13(5):367-75. Epub 2003 Jan 22.

PMID:
12626389
15.

Human glycosylation disorders and sugar supplement therapy.

Freeze HH.

Biochem Biophys Res Commun. 1999 Feb 16;255(2):189-93. Review.

PMID:
10049684
16.

The N-glycome of human embryonic stem cells.

Satomaa T, Heiskanen A, Mikkola M, Olsson C, Blomqvist M, Tiittanen M, Jaatinen T, Aitio O, Olonen A, Helin J, Hiltunen J, Natunen J, Tuuri T, Otonkoski T, Saarinen J, Laine J.

BMC Cell Biol. 2009 Jun 2;10:42. doi: 10.1186/1471-2121-10-42.

17.

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
18.

Therapies and therapeutic approaches in Congenital Disorders of Glycosylation.

Thiel C, Körner C.

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

PMID:
22983739
19.

Extraction of species-specific glycan substructures.

Hizukuri Y, Yamanishi Y, Hashimoto K, Kanehisa M.

Genome Inform. 2004;15(1):69-81.

PMID:
15712111
20.

Protein glycosylation in development and disease.

Dennis JW, Granovsky M, Warren CE.

Bioessays. 1999 May;21(5):412-21. Review.

PMID:
10376012

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