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Thierry Dupré

Research Profile

Phenomena

Glycosylation

Chemicals & Drugs

Disorders

Anatomy

Geographic Areas

France

Co-author Network

Publications

TOP 3
Sandrine Vuillaumier-Barrot; Albert David; Thierry Dupré; Bertrand Isidor; Christiane Le Bizec; Nathalie Seta
Expanding the Spectrum of PMM2-CDG Phenotype.
Thierry Dupré; Sandrine Vuillaumier-Barrot; I Chantret; H S Yayé; C Le Bizec; A Afenjar; C Altuzarra; C Barnérias; L Burglen; Pascale de Lonlay; F Feillet; S Napuri; Nathalie Seta; S E H Moore
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.
E J Footitt; M Burch; Isabelle Chantret; Thierry Dupré; Ann Karimova; S E H Moore; Nathalie Seta; Sandrine Vuillaumier-Barrot; T Yayeh; S Grunewald
Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review.

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All Publications

2012: Sandrine Vuillaumier-Barrot; Albert David; Thierry Dupré; Bertrand Isidor; Christiane Le Bizec; Nathalie Seta
Expanding the Spectrum of PMM2-CDG Phenotype.
JIMD reports 2012;5():123-5.
2010: Thierry Dupré; Sandrine Vuillaumier-Barrot; I Chantret; H S Yayé; C Le Bizec; A Afenjar; C Altuzarra; C Barnérias; L Burglen; Pascale de Lonlay; F Feillet; S Napuri; Nathalie Seta; S E H Moore
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.
Journal of medical genetics 2010;47(11):729-35.
2009: E J Footitt; M Burch; Isabelle Chantret; Thierry Dupré; Ann Karimova; S E H Moore; Nathalie Seta; Sandrine Vuillaumier-Barrot; T Yayeh; S Grunewald
Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review.
Journal of inherited metabolic disease 2009;32 Suppl 1():S313-9.
2006: Sandrine Vuillaumier-Barrot; Christiane Le Bizec; Pascale de Lonlay; Nathalie Madinier-Chappat; Anne Barnier; Thierry Dupré; Geneviève Durand; Nathalie Seta
PMM2 intronic branch-site mutations in CDG-Ia.
Molecular genetics and metabolism 2006;87(4):337-40.
2005: Christiane Le Bizec; Sandrine Vuillaumier-Barrot; Anne Barnier; Thierry Dupré; Geneviève Durand; Nathalie Seta
A new insight into PMM2 mutations in the French population.
Human mutation 2005;25(5):504-5.
2005: Ivan Martinez-Duncker; Thierry Dupré; Véronique Piller; Friedrich Piller; Jean-Jacques Candelier; Catherine Trichet; Gil Tchernia; Rafael Oriol; Rosella Mollicone
Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter.
Blood 2005;105(7):2671-6.
2004: Thierry Dupré; Grégory Lavieu; Stuart Moore; Nathalie Seta
[Inherited disorders of protein glycosylation].
Médecine sciences : M/S 2004;20(3):331-8.
2003: Ewa Zdebska; Brigitte Bader-Meunier; Pierre-Olivier Schischmanoff; Thierry Dupré; Nathalie Seta; Gil Tchernia; Jerzy Kościelak; Jean Delaunay
Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.
Pediatric research 2003;54(2):224-9.
2003: Isabelle Chantret; Julia Dancourt; Thierry Dupré; Christophe Delenda; Stéphanie Bucher; Sandrine Vuillaumier-Barrot; Hélène Ogier de Baulny; Celine Peletan; Olivier Danos; Nathalie Seta; Geneviève Durand; Rafael Oriol; Patrice Codogno; Stuart Moore
A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.
The Journal of biological chemistry 2003;278(11):9962-71.
2003: Geneviève Durand; Thierry Dupré; Sandrine Vuillaumier-Barrot; Nathalie Seta
[Congenital disorders of glycosylation].
Annales pharmaceutiques françaises 2003;61(5):330-9.
2002: Giusy Sala; Thierry Dupré; Nathalie Seta; Patrice Codogno; Riccardo Ghidoni
Increased biosynthesis of glycosphingolipids in congenital disorder of glycosylation Ia (CDG-Ia) fibroblasts.
Pediatric research 2002;52(5):645-51.
2002: Isabelle Chantret; Thierry Dupré; Christophe Delenda; Stéphanie Bucher; Julia Dancourt; Anne Barnier; Aude Charollais; Delphine Heron; Brigitte Bader-Meunier; Olivier Danos; Nathalie Seta; Geneviève Durand; Rafael Oriol; Patrice Codogno; Stuart Moore
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.
The Journal of biological chemistry 2002;277(28):25815-22.
2002: Anne Barnier; Thierry Dupré; Maryvonne Cuer; Sandrine Vuillaumier-Barrot; Geneviève Durand; Nathalie Seta
Leukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation Ia.
Clinical chemistry 2002;48(6 Pt 1):934-6.
2000: Thierry Dupré; Anne Barnier; Pascale de Lonlay; V Cormier-Daire; Geneviève Durand; Patrice Codogno; Nathalie Seta
Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia.
Glycobiology 2000;10(12):1277-81.
2000: Sandrine Vuillaumier-Barrot; Gilles Hetet; Anne Barnier; Thierry Dupré; Maryvonne Cuer; Pascale de Lonlay; V Cormier-Daire; Geneviève Durand; Bernard Grandchamp; Nathalie Seta
Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients.
Journal of medical genetics 2000;37(8):579-80.
1999: Markus Aebi; ari Helenius; B Schenk; R Barone; A Fiumara; Eric G Berger; Thierry Hennet; T Imbach; A Stutz; Cecilia Bjursell; A Uller; Jan Wahlström; Paz Briones; E Cardo; Peter Clayton; Bryan Winchester; V Cormier-Dalre; Pascale de Lonlay; Maryvonne Cuer; Thierry Dupré; Nathalie Seta; Tom J de Koning; Lambertus Dorland; F de Loos; L Kupers
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS.
Glycoconjugate journal 1999;16(11):669-71.