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T. Dupré · SciRah

Researcher profile · Semantic Scholar

T. Dupré

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T. Dupré — researcher profile on SciRah

h-index: 22
Works: 53
Citations: 1,438

Most-cited papers

Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter.
I. Martínez-Duncker, T. Dupré, V. Piller, F. Piller +5 more
2005Blood155 citations Open access
Semantic Scholar
Congenital Disorders of Glycosylation Type Ig Is Defined by a Deficiency in Dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl Mannosyltransferase*
I. Chantret, T. Dupré, C. Delenda, Stéphanie Bucher +11 more
2002Journal of Biological Chemistry103 citations Open access
Semantic Scholar
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature
M. Schiff, C. Roda, M. Monin, A. Arion +42 more
2017Journal of Medical Genetics101 citations
Semantic Scholar
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG
M. Aebi, A. Helenius, B. Schenk, R. Barone +53 more
1999Glycoconjugate Journal100 citations
Semantic Scholar
A Deficiency in Dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl α3-Glucosyltransferase Defines a New Subtype of Congenital Disorders of Glycosylation*
I. Chantret, Julia Dancourt, T. Dupré, C. Delenda +10 more
2003Journal of Biological Chemistry89 citations Open access
Semantic Scholar
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity
S. Sabry, S. Vuillaumier-Barrot, E. Mintet, M. Fasseu +8 more
2016Orphanet Journal of Rare Diseases57 citations Open access
Semantic Scholar
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations
T. Dupré, S. Vuillaumier-Barrot, I. Chantret, H. Yayé +10 more
2010Journal of Medical Genetics47 citations
Semantic Scholar
Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review
E. Footitt, A. Karimova, M. Burch, T. Yayeh +6 more
2009Journal of Inherited Metabolic Disease46 citations
Semantic Scholar
A new insight into PMM2 mutations in the French population
C. Le Bizec, S. Vuillaumier-Barrot, A. Barnier, T. Dupré +2 more
2005Human Mutation44 citations Open access
Semantic Scholar
Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern.
T. Dupré, M. Cuer, S. Barrot, A. Barnier +4 more
2001Clinical Chemistry37 citations
Semantic Scholar
A Genome-Wide CRISPR-Cas9 Screen Identifies the Dolichol-Phosphate Mannose Synthase Complex as a Host Dependency Factor for Dengue Virus Infection
Athéna Labeau, Etienne Simon-Lorière, M. Hafirassou, Lucie Bonnet-Madin +9 more
2020Journal of Virology36 citations Open access
Semantic Scholar
Identification of Roles for Peptide: N-Glycanase and Endo-β-N-Acetylglucosaminidase (Engase1p) during Protein N-Glycosylation in Human HepG2 Cells
I. Chantret, M. Fasseu, Karim Zaoui, C. Le Bizec +3 more
2010PLoS ONE34 citations Open access
Semantic Scholar
Identification of four novel PMM2mutations in congenital disorders of glycosylation (CDG) Ia French patients
S. Vuillaumier-Barrot, G. Hetet, A. Barnier, T. Dupré +6 more
2000Journal of Medical Genetics34 citations Open access
Semantic Scholar
A New Intronic Mutation in the DPM1 Gene Is Associated With a Milder Form of CDG Ie in Two French Siblings
Julia Dancourt, S. Vuillaumier-Barrot, H. D. de Baulny, I. Sfaello +6 more
2006Pediatric Research33 citations
Semantic Scholar
Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?
N. Léticée, Bettina Bessières-Grattagliano, T. Dupré, S. Vuillaumier-Barrot +8 more
2010Molecular Genetics and Metabolism31 citations
Semantic Scholar
Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation
A. Bruneel, Sophie Cholet, V. Drouin-Garraud, M. Jacquemont +8 more
2018Electrophoresis30 citations Open access
Semantic Scholar
Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia.
T. Dupré, A. Barnier, P. de Lonlay, V. Cormier-Daire +3 more
2000Glycobiology29 citations Open access
Semantic Scholar
Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)
S. Romano, F. Bajolle, V. Valayannopoulos, S. Lyonnet +11 more
2009Journal of Medical Genetics27 citations
Semantic Scholar
Mono, di and tri-mannopyranosyl phosphates as mannose-1-phosphate prodrugs for potential CDG-Ia therapy.
R. Hardré, A. Khaled, A. Willemetz, T. Dupré +3 more
2007Bioorganic & Medicinal Chemistry Letters27 citations
Semantic Scholar
Long term outcome of MPI‐CDG patients on D‐mannose therapy
M. Girard, C. Douillard, D. Debray, F. Lacaille +15 more
2020Journal of Inherited Metabolic Disease26 citations Open access
Semantic Scholar
Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine‐rich N‐terminus
N. Himmelreich, Bianca Dimitrov, Virginia Geiger, M. Zielonka +20 more
2019Human Mutation26 citations Open access
Semantic Scholar
Red blood cell Thomsen‐Friedenreich antigen expression and galectin‐3 plasma concentrations in Streptococcus pneumoniae–associated hemolytic uremic syndrome and hemolytic anemia
Nicolas Burin Des Roziers, P. Chadebech, G. Bodivit, Emmanuel Guinchard +7 more
2015Transfusion24 citations
Semantic Scholar
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
B. Ng, P. Sosicka, F. Fenaille, A. Harroche +28 more
2021American Journal of Human Genetics22 citations Open access
Semantic Scholar
The Compartmentalisation of Phosphorylated Free Oligosaccharides in Cells from a CDG Ig Patient Reveals a Novel ER-to-Cytosol Translocation Process
D. Peric, Christelle Durrant-Arico, C. Delenda, T. Dupré +7 more
2010PLoS ONE22 citations Open access
Semantic Scholar
CCDC115-CDG: A new rare and misleading inherited cause of liver disease.
M. Girard, A. Poujois, M. Fabre, F. Lacaille +15 more
2018Molecular Genetics and Metabolism21 citations
Semantic Scholar
Abnormal Glycosylation of Red Cell Membrane Band 3 in the Congenital Disorder of Glycosylation Ig
E. Zdebska, B. Bader-Meunier, P. Schischmanoff, T. Dupré +4 more
2003Pediatric Research19 citations
Semantic Scholar
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
M. Wilson, A. Garanto, Филиппов Е. Ф., B. Ng +31 more
2021American Journal of Human Genetics16 citations Open access
Semantic Scholar
Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications
C. Castiglioni, F. Feillet, C. Barnerias, A. Wiedemann +9 more
2020Human Mutation16 citations Open access
Semantic Scholar
Two-dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation.
A. Bruneel, F. Habarou, T. Stojkovic, Grégory Plouviez +7 more
2017Clinica chimica acta; international journal of clinical chemistry14 citations
Semantic Scholar
Expanding the Spectrum of PMM2-CDG Phenotype.
S. Vuillaumier-Barrot, B. Isidor, T. Dupré, C. Le Bizec +2 more
2012JIMD Reports14 citations Open access
Semantic Scholar
PMM2 intronic branch-site mutations in CDG-Ia.
S. Vuillaumier-Barrot, C. Le Bizec, P. de Lonlay, N. Madinier-Chappat +4 more
2006Molecular Genetics and Metabolism14 citations
Semantic Scholar
MAN1B1-CDG: Three new individuals and associated biochemical profiles
Soraya Sakhi, Sophie Cholet, S. Wehbi, B. Isidor +11 more
2021Molecular Genetics and Metabolism Reports13 citations Open access
Semantic Scholar
Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.
S. El Chehadeh, C. Bonnet, P. Callier, M. Béri +13 more
2015JIMD Reports13 citations Open access
Semantic Scholar
Increased Biosynthesis of Glycosphingolipids in Congenital Disorder of Glycosylation Ia (CDG-Ia) Fibroblasts
Giusy Sala, T. Dupré, N. Seta, P. Codogno +1 more
2002Pediatric Research12 citations
Semantic Scholar
Detection of hepatitis C virus RNA by a reliable, optimized single-step reverse transcription polymerase chain reaction.
C. Payan, T. Dupré, L. Bélec
1995Research in Virology12 citations
Semantic Scholar
Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!
A. Raynor, C. Vincent-Delorme, Anne-Sophie Alaix, Sophie Cholet +5 more
2021Clinica chimica acta; international journal of clinical chemistry11 citations Open access
Semantic Scholar
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.
J. Svahn, P. Laforêt, Christophe Vial, Nathalie Streichenberger +8 more
2019Neuromuscular Disorders11 citations Open access
Semantic Scholar
Comparison of cervicovaginal humoral immunity in clinically asymptomatic (CDC Al and A2 category) patients with HIV-1 and HIV-2 infection
L. Bélec, C. Tévi-Bénissan, T. Dupré, A. Mohamed +4 more
2005Journal of Clinical Immunology11 citations Open access
Semantic Scholar
Leukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation Ia.
A. Barnier, T. Dupré, M. Cuer, S. Vuillaumier-Barrot +2 more
2002Clinical Chemistry9 citations
Semantic Scholar
Serum bikunin is a biomarker of linkeropathies.
A. Bruneel, J. Dubail, C. Roseau, Pierre Prada +6 more
2018Clinica chimica acta; international journal of clinical chemistry8 citations
Semantic Scholar
Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient
S. Vuillaumier-Barrot, M. Schiff, F. Mattioli, E. Schaefer +9 more
2018Pediatric Research8 citations
Semantic Scholar
Orange Palpebral Spots
P. Assouly, B. Cavelier-balloy, T. Dupré
2008Dermatology8 citations
Semantic Scholar
Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients.
T. Dupré, É. Ogier-Denis, S. Moore, V. Cormier-Daire +4 more
1999Biochimica et Biophysica Acta8 citations Open access
Semantic Scholar
Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.
Juliette Bouchereau, S. Barrot, T. Dupré, S. Moore +9 more
2016JIMD Reports6 citations Open access
Semantic Scholar
[Congenital Disorders of Glycosylation (CDG)].
P. de Lonlay, V. Valayannopoulos, T. Dupré, S. Vuillaumier-Barrot +1 more
2008Archives de pédiatrie6 citations
Semantic Scholar
[Inherited disorders of protein glycosylation].
T. Dupré, Grégory Lavieu, S. Moore, N. Seta
2004Medecine sciences : M/S3 citations
Semantic Scholar
Le carbohydrate-deficient glycoprotein syndrome de type I : un nouvel éclairage sur le métabolisme du mannose
N. Seta, T. Dupré, V. Cormier-Daire, P. de Lonlay +3 more
19992 citations
Semantic Scholar
An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA
Sandrine Vuillaumier-Barrot, T. Dupré, Tiffany Andriantsihoarana, V. DesPortes +3 more
2025Orphanet Journal of Rare Diseases1 citations Open access
Semantic Scholar
N- and O-glycan analysis for the detection of glycosylation disorders
A. Gouda, A. Elbaz, T. Dupré, O. Ali +2 more
2021Egyptian Journal of Medical Human Genetics1 citations Open access
Semantic Scholar
[Congenital disorders of glycosylation].
G. Durand, T. Dupré, S. Vuillaumier-Barrot, N. Seta
2003Annales Pharmaceutiques Françaises1 citations
Semantic Scholar

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