Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): Extending the clinical and molecular spectrum of a rare disease-Reference-Cited by-同舟云学术

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Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): Extending the clinical and molecular spectrum of a rare disease

Published:2012-04 Issue:4 Volume:105 Page:634-641
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Würde A.E.,Reunert J.,Rust S.,Hertzberg C.,Haverkämper S.,Nürnberg G.,Nürnberg P.,Lehle L.,Rossi R.,Marquardt T.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference42 articles.

1. Congenital disorders of glycosylation: Review of their molecular bases, clinical presentations and specific therapies;Marquardt;Eur. J. Pediatr.,2003

2. A sequence-tagged site map of human chromosome 11;Smith;Genomics,1993

3. Genomic Structure of the Human UDP- GlcNAc:dolichol-P GlcNAc-1-P Transferase Gene;Regis;DNA Seq.,2002

4. The specific site of tunicamycin inhibition in the formation of dolichol-bound N-acetyl-glucosamine derivatives;Lehle;FEBS Lett.,1976

5. Cloning and functional expression of the human GlcNAc-1-P transferase, the enzyme for the committed step of the dolichol cycle, by heterologous complementation in Saccharomyces cerevisiae;Eckert;Glycobiology,1998

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4. Structure-Based Insight on the Mechanism of N-Glycosylation Inhibition by Tunicamycin;Molecules and Cells;2023-06

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