Literature DB >> 11308015

Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study.

T Marquardt1, H Freeze.   

Abstract

Several inherited disorders affecting the biosynthetic pathways of N-glycans have been discovered during the past years. This review summarizes the current knowledge in this rapidly expanding field and covers the molecular bases of these disorders as well as their phenotypical consequences.

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Year:  2001        PMID： 11308015     DOI： 10.1515/BC.2001.024

Source DB:  PubMed          Journal:  Biol Chem        ISSN： 1431-6730            Impact factor:   3.915


  14 in total

1.  A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation.

Authors:  Bo Thomsen; Per Horn; Frank Panitz; Emøke Bendixen; Anette H Petersen; Lars-Erik Holm; Vivi H Nielsen; Jørgen S Agerholm; Jens Arnbjerg; Christian Bendixen
Journal:  Genome Res       Date:  2005-12-12       Impact factor: 9.043

2.  Probing isomeric differences of phosphorylated carbohydrates through the use of ion/molecule reactions and FT-ICR MS.

Authors:  M D Leavell; Julie A Leary
Journal:  J Am Soc Mass Spectrom       Date:  2003-04       Impact factor: 3.109

3.  Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.

Authors:  Zoltán Kutalik; Beben Benyamin; Sven Bergmann; Vincent Mooser; Gérard Waeber; Grant W Montgomery; Nicholas G Martin; Pamela A F Madden; Andrew C Heath; Jacques S Beckmann; Peter Vollenweider; Pedro Marques-Vidal; John B Whitfield
Journal:  Hum Mol Genet       Date:  2011-06-10       Impact factor: 6.150

4.  A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).

Authors:  C Kranz; J Denecke; M A Lehrman; S Ray; P Kienz; G Kreissel; D Sagi; J Peter-Katalinic; H H Freeze; T Schmid; S Jackowski-Dohrmann; E Harms; T Marquardt
Journal:  J Clin Invest       Date:  2001-12       Impact factor: 14.808

5.  Analysis of glycosylation in CDG-Ia fibroblasts by fluorophore-assisted carbohydrate electrophoresis: implications for extracellular glucose and intracellular mannose 6-phosphate.

Authors:  Ningguo Gao; Jie Shang; Mark A Lehrman
Journal:  J Biol Chem       Date:  2005-02-11       Impact factor: 5.157

6.  Comparison of transferrin isoform analysis by capillary electrophoresis and HPLC for screening congenital disorders of glycosylation.

Authors:  Mihika B Dave; Alpa J Dherai; Vrajesh P Udani; Anaita U Hegde; Neelu A Desai; Tester F Ashavaid
Journal:  J Clin Lab Anal       Date:  2017-02-25       Impact factor: 2.352

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

Authors:  J Jaeken
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

8.  Investigation of ion/molecule reactions as a quantification method for phosphorylated positional isomers. an FT-ICR approach.

Authors:  Hong Gao; Christopher J Petzold; Michael D Leavell; Julie A Leary
Journal:  J Am Soc Mass Spectrom       Date:  2003-08       Impact factor: 3.109

9.  Mapping yeast N-glycosites with isotopically recoded glycans.

Authors:  Mark A Breidenbach; Krishnan K Palaniappan; Austin A Pitcher; Carolyn R Bertozzi
Journal:  Mol Cell Proteomics       Date:  2012-01-19       Impact factor: 5.911

10.  A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency.

Authors:  Abigail Cline; Ningguo Gao; Heather Flanagan-Steet; Vandana Sharma; Sabrina Rosa; Roberto Sonon; Parastoo Azadi; Kirsten C Sadler; Hudson H Freeze; Mark A Lehrman; Richard Steet
Journal:  Mol Biol Cell       Date:  2012-09-05       Impact factor: 4.138
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