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Items: 1 to 20 of 27

1.

Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.

Kranz C, Denecke J, Lehle L, Sohlbach K, Jeske S, Meinhardt F, Rossi R, Gudowius S, Marquardt T.

Am J Hum Genet. 2004 Mar;74(3):545-51. Epub 2004 Feb 17.

2.

Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.

Schwarz M, Thiel C, Lübbehusen J, Dorland B, de Koning T, von Figura K, Lehle L, Körner C.

Am J Hum Genet. 2004 Mar;74(3):472-81. Epub 2004 Feb 16.

3.

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
4.

Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!

Jaeken J.

J Inherit Metab Dis. 2003;26(2-3):99-118.

PMID:
12889654
5.

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.

Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH.

Hum Mutat. 2003 Aug;22(2):144-50.

PMID:
12872255
6.

Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.

Briones P, Vilaseca MA, Schollen E, Ferrer I, Maties M, Busquets C, Artuch R, Gort L, Marco M, van Schaftingen E, Matthijs G, Jaeken J, Chabás A.

J Inherit Metab Dis. 2002 Dec;25(8):635-46.

PMID:
12705494
7.

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.

8.

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
9.

A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family.

Baysal BE, Willett-Brozick JE, Badner JA, Corona W, Ferrell RE, Nimgaonkar VL, Detera-Wadleigh SD.

Neurogenetics. 2002 Mar;4(1):43-53.

PMID:
12030331
10.

Update and perspectives on congenital disorders of glycosylation.

Freeze HH.

Glycobiology. 2001 Dec;11(12):129R-143R. Review.

PMID:
11805072
11.

Congenital disorders of glycosylation.

Jaeken J, Matthijs G.

Annu Rev Genomics Hum Genet. 2001;2:129-51. Review.

PMID:
11701646
12.

Congenital disorders of glycosylation: genetic model systems lead the way.

Aebi M, Hennet T.

Trends Cell Biol. 2001 Mar;11(3):136-41. Review.

PMID:
11306275
13.

Intracellular functions of N-linked glycans.

Helenius A, Aebi M.

Science. 2001 Mar 23;291(5512):2364-9. Review.

PMID:
11269317
14.

High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

Grünewald S, Schollen E, Van Schaftingen E, Jaeken J, Matthijs G.

Am J Hum Genet. 2001 Feb;68(2):347-54. Epub 2001 Jan 11.

15.

Protein glucosylation and its role in protein folding.

Parodi AJ.

Annu Rev Biochem. 2000;69:69-93. Review.

PMID:
10966453
16.

Retrograde protein translocation: ERADication of secretory proteins in health and disease.

Plemper RK, Wolf DH.

Trends Biochem Sci. 1999 Jul;24(7):266-70. Review.

PMID:
10390615
17.

The dolichol pathway of N-linked glycosylation.

Burda P, Aebi M.

Biochim Biophys Acta. 1999 Jan 6;1426(2):239-57. Review.

PMID:
9878760
19.

Carbohydrate-deficient glycoprotein syndrome.

Krasnewich D, Gahl WA.

Adv Pediatr. 1997;44:109-40. Review.

PMID:
9265969
20.

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