Literature DB >> 10642590

Congenital disorders of glycosylation caused by defects in mannose addition during N-linked oligosaccharide assembly.

P Orlean1.   

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Year:  2000        PMID: 10642590      PMCID: PMC377435          DOI: 10.1172/JCI9157

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


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  19 in total

1.  Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.

Authors:  Y Maeda; S Tanaka; J Hino; K Kangawa; T Kinoshita
Journal:  EMBO J       Date:  2000-06-01       Impact factor: 11.598

2.  Cloning and sequencing of the yeast gene for dolichol phosphate mannose synthase, an essential protein.

Authors:  P Orlean; C Albright; P W Robbins
Journal:  J Biol Chem       Date:  1988-11-25       Impact factor: 5.157

3.  Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.

Authors:  T Imbach; B Schenk; E Schollen; P Burda; A Stutz; S Grunewald; N M Bailie; M D King; J Jaeken; G Matthijs; E G Berger; M Aebi; T Hennet
Journal:  J Clin Invest       Date:  2000-01       Impact factor: 14.808

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

Authors:  S Kim; V Westphal; G Srikrishna; D P Mehta; S Peterson; J Filiano; P S Karnes; M C Patterson; H H Freeze
Journal:  J Clin Invest       Date:  2000-01       Impact factor: 14.808

Review 5.  Assembly of asparagine-linked oligosaccharides.

Authors:  R Kornfeld; S Kornfeld
Journal:  Annu Rev Biochem       Date:  1985       Impact factor: 23.643

Review 6.  Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity.

Authors:  H H Freeze; M Aebi
Journal:  Biochim Biophys Acta       Date:  1999-10-08

7.  Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase.

Authors:  C Körner; R Knauer; U Stephani; T Marquardt; L Lehle; K von Figura
Journal:  EMBO J       Date:  1999-12-01       Impact factor: 11.598

8.  A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.

Authors:  T Imbach; P Burda; P Kuhnert; R A Wevers; M Aebi; E G Berger; T Hennet
Journal:  Proc Natl Acad Sci U S A       Date:  1999-06-08       Impact factor: 11.205

9.  Yeast mutants deficient in protein glycosylation.

Authors:  T C Huffaker; P W Robbins
Journal:  Proc Natl Acad Sci U S A       Date:  1983-12       Impact factor: 11.205

10.  Functional analysis of T-cell mutants defective in the biosynthesis of glycosylphosphatidylinositol anchor. Relative importance of glycosylphosphatidylinositol anchor versus N-linked glycosylation in T-cell activation.

Authors:  L J Thomas; R DeGasperi; E Sugiyama; H M Chang; P J Beck; P Orlean; M Urakaze; T Kamitani; J F Sambrook; C D Warren
Journal:  J Biol Chem       Date:  1991-12-05       Impact factor: 5.157

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  3 in total

1.  Glycosylation defects and virulence phenotypes of Leishmania mexicana phosphomannomutase and dolicholphosphate-mannose synthase gene deletion mutants.

Authors:  A Garami; A Mehlert; T Ilg
Journal:  Mol Cell Biol       Date:  2001-12       Impact factor: 4.272

Review 2.  Biological roles of glycans.

Authors:  Ajit Varki
Journal:  Glycobiology       Date:  2016-08-24       Impact factor: 4.313

3.  Congenital protein hypoglycosylation diseases.

Authors:  Susan E Sparks
Journal:  Appl Clin Genet       Date:  2012-07-05
  3 in total

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