Literature DB >> 10973055

Congenital disorders of glycosylation.

G Matthijs1.   

Abstract

Entities:  

Year:  2000        PMID： 10973055     DOI： 10.1016/s0968-0004(00)01629-7

Source DB:  PubMed          Journal:  Trends Biochem Sci        ISSN： 0968-0004            Impact factor:   13.807


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  8 in total

1.  On the nomenclature of congenital disorders of glycosylation (CDG).

Authors:  J Jaeken; T Hennet; H H Freeze; G Matthijs
Journal:  J Inherit Metab Dis       Date:  2008-10-24       Impact factor: 4.982

2.  The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.

Authors:  B Pérez; P Briones; D Quelhas; R Artuch; A I Vega; E Quintana; L Gort; M J Ecay; G Matthijs; M Ugarte; C Pérez-Cerdá
Journal:  JIMD Rep       Date:  2011-06-22

3.  Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

Authors:  Ana Isabel Vega; Celia Pérez-Cerdá; David Abia; Alejandra Gámez; Paz Briones; Rafael Artuch; Lourdes R Desviat; Magdalena Ugarte; Belén Pérez
Journal:  J Inherit Metab Dis       Date:  2011-05-04       Impact factor: 4.982

4.  Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.

Authors:  Melanie A Jones; Shruti Bhide; Ephrem Chin; Bobby G Ng; Devin Rhodenizer; Victor W Zhang; Jessica J Sun; Alice Tanner; Hudson H Freeze; Madhuri R Hegde
Journal:  Genet Med       Date:  2011-11       Impact factor: 8.822

5.  Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.

Authors:  Giuseppina Andreotti; Maria Chiara Monti; Valentina Citro; Maria Vittoria Cubellis
Journal:  PLoS One       Date:  2015-10-21       Impact factor: 3.240

Review 6.  Biological roles of glycans.

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

7.  The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.

Authors:  Valentina Citro; Chiara Cimmaruta; Maria Monticelli; Guglielmo Riccio; Bruno Hay Mele; Maria Vittoria Cubellis; Giuseppina Andreotti
Journal:  Int J Mol Sci       Date:  2018-07-30       Impact factor: 5.923

8.  Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.

Authors:  Giuseppina Andreotti; Emilia Pedone; Assunta Giordano; Maria Vittoria Cubellis
Journal:  Mol Genet Genomic Med       Date:  2013-03-27       Impact factor: 2.183
  8 in total

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