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Items: 1 to 20 of 92

1.

Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.

Zdebska E, Bader-Meunier B, Schischmanoff PO, Dupré T, Seta N, Tchernia G, Kościelak J, Delaunay J.

Pediatr Res. 2003 Aug;54(2):224-9. Epub 2003 May 7.

PMID:
12736397
2.
3.

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.

Chantret I, Dupré T, Delenda C, Bucher S, Dancourt J, Barnier A, Charollais A, Heron D, Bader-Meunier B, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE.

J Biol Chem. 2002 Jul 12;277(28):25815-22. Epub 2002 Apr 30.

4.

ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.

Grubenmann CE, Frank CG, Kjaergaard S, Berger EG, Aebi M, Hennet T.

Hum Mol Genet. 2002 Sep 15;11(19):2331-9.

PMID:
12217961
5.

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
6.

Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins.

Denecke J, Kranz C, von Kleist-Retzow JCh, Bosse K, Herkenrath P, Debus O, Harms E, Marquardt T.

Pediatr Res. 2005 Aug;58(2):248-53. Epub 2005 Jul 8.

PMID:
16006436
7.

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.

Grubenmann CE, Frank CG, Hülsmeier AJ, Schollen E, Matthijs G, Mayatepek E, Berger EG, Aebi M, Hennet T.

Hum Mol Genet. 2004 Mar 1;13(5):535-42. Epub 2004 Jan 6.

PMID:
14709599
8.

Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.

Thiel C, Schwarz M, Hasilik M, Grieben U, Hanefeld F, Lehle L, von Figura K, Körner C.

Biochem J. 2002 Oct 1;367(Pt 1):195-201.

10.

Increased biosynthesis of glycosphingolipids in congenital disorder of glycosylation Ia (CDG-Ia) fibroblasts.

Sala G, Dupré T, Seta N, Codogno P, Ghidoni R.

Pediatr Res. 2002 Nov;52(5):645-51.

PMID:
12409508
11.

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

Kim S, Westphal V, Srikrishna G, Mehta DP, Peterson S, Filiano J, Karnes PS, Patterson MC, Freeze HH.

J Clin Invest. 2000 Jan;105(2):191-8.

12.

Recombinant Miltenberger I and II human blood group antigens: the role of glycosylation in cell surface expression and antigenicity of glycophorin A.

Ugorski M, Blackall DP, Påhlsson P, Shakin-Eshleman SH, Moore J, Spitalnik SL.

Blood. 1993 Sep 15;82(6):1913-20.

13.

Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome.

Krasnewich DM, Holt GD, Brantly M, Skovby F, Redwine J, Gahl WA.

Glycobiology. 1995 Jul;5(5):503-10.

PMID:
8563136
14.

Glycophorin A in two patients with congenital dyserythropoietic anemia type I and type II is partly unglycosylated.

Zdebska E, Adamczyk-Popławska M, Kościelak J.

Acta Biochim Pol. 2000;47(3):773-9.

15.

A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.

Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, Kohlschütter A, von Figura K, Lehle L, Körner C.

J Biol Chem. 2003 Jun 20;278(25):22498-505. Epub 2003 Apr 8.

17.

Heterozygosity of CDAN II (HEMPAS) gene may be detected by the analysis of erythrocyte membrane glycoconjugates from healthy carriers.

Zdebska E, Mendek-Czajkowska E, Ploski R, Woêniewicz B, Koscielak J.

Haematologica. 2002 Feb;87(2):126-30.

19.

Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS).

Denecke J, Kranz C, Nimtz M, Conradt HS, Brune T, Heimpel H, Marquardt T.

Glycoconj J. 2008 May;25(4):375-82. doi: 10.1007/s10719-007-9089-1. Epub 2007 Dec 29.

PMID:
18166993
20.

Ethanol-induced impairment in the biosynthesis of N-linked glycosylation.

Welti M, Hülsmeier AJ.

J Cell Biochem. 2014 Apr;115(4):754-62. doi: 10.1002/jcb.24713.

PMID:
24243557

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