Dirk J. Lefeber - Publications, H-index & Citations

Dirk J. Lefeber

radboud university medical center

54H指数

274论文数

1.1W被引数

收录论文 136

发表时间

Diagnosis of Congenital Disorders of Glycosylation Type II Subtypes Through Comprehensive N-Glycan Profiling by Mass Spectrometry 通过质谱法进行全面的N-糖链谱分析诊断II型先天性糖基化障碍亚型

International Journal of Molecular Sciences

IF4.9

2026-07-23

OAAI

Alan R. Mól; Nilza do C. Fontes; Savana C. L. Santos; Cynthia Costa e Silva; Gerson da S. Carvalho; Bruno J. C. B. Lima; Walquíria D. de Mello; Daniel R. de Carvalho; Eder A. Barbosa; Dirk J. Lefeber; Juliana F. Mazzeu; Jaime M. Brum; Guilherme D. Brand

Hans Vliegenthart (1936–2026), a pioneering glycoscientist 汉斯·弗利根塔尔（1936–2026），一位开创性的糖科学家

Glycoconjugate Journal

IF3.1

2026-07-20

PREAI

Cornelis (Ron) H. Hokke; Johannis (Hans) P. Kamerling; Dirk J. Lefeber

Cellular homeostasis of N-acetylneuraminic acid and non-canonical sialic acids is mediated by human N-acetylneuraminate lyase N-乙酰神经氨酸和非经典唾液酸细胞的稳态是由人N-乙酰神经氨酸裂解酶介导的

Glycobiology

IF3.3

2026-05-18

OAAI

Sjanie Huang; Iris Harmsen; Moritz Rahm; Takfarinas Kentache; Clara D M van Karnebeek; Afitz Da Silva; Alexey V Pshezhetsky; Emile Van Schaftingen; Alejandro Garanto; Dirk J Lefeber

Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1 氨基己二酸半醛合成酶，戊二酸尿症I型的底物减少疗法潜在靶点

Scientific Reports

IF3.9

2026-03-31

OAAI

Saad, Celine; Jung-Klawitter, Sabine; Dimitrov, Bianca; Aguilar-Pimentel, Juan Antonio; Becker, Lore; da Silva-Buttkus, Patricia; Dragano, Nathalia R. V.; Garrett, Lillian; Holter, Sabine M.; Rathkolb, Birgit; Sanz-Moreno, Adrian; Spielmann, Nadine; Fuchs, Helmut; Gailus-Durner, Valerie; Schaaf, Christian P.; la Marca, Giancarlo; Damiano, Roberta; Lefeber, Dirk J.; Engelke, Udo; de Angelis, Martin Hrabe; Houten, Sander M.; Kolker, Stefan

Biosynthetic and genetic pathways related to sialic acid metabolism

Journal of Biological Chemistry

IF3.9

2026-02-06

OAAI

Sjanie Huang; Eline G.P. van de Ven; Trisha Tee; Dirk J. Lefeber

Cross-modal integration of metabolomics and cardiac functionality captures dynamic metabotoxic effects of doxorubicin in engineered heart tissues 多模态整合代谢组学与心脏功能，捕获阿霉素在工程心脏组织中的动态代谢毒性效应

Stem Cell Reports

IF5.1

2025-12-04

OAAI

Federica Conte; Doroteya K. Staykova; Carla Cofiño-Fabres; Danique Snippert; Arno van Rooij; Dirk J. Lefeber; Robert Passier

Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders 非靶向代谢组学在遗传代谢病诊断、监测及病理生理机制理解中的应用

JOURNAL OF INHERITED METABOLIC DISEASE

IF3.8

2025-12-02

OAAI

Martens, Jonathan; Engelke, Udo F. H.; Wevers, Ron A.; Lefeber, Dirk J.; Kulkarni, Purva

Investigating the utilization mechanism and kinetics of sialic acid mimetics in mammalian cell lines

RSC CHEMICAL BIOLOGY

IF3.1

2025-10-01

OAAI

Visser, Eline A.; Hornikx, Daniel L. A. H.; Rahm, Moritz; Ozturk, Ozden; Psomiadou, Venetia; Calzari, Matteo; Mennen, Celine; Moons, Sam J.; Jaeger, Martin; Lefeber, Dirk J.; Bull, Christian; Boltje, Thomas J.

Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine dependent epilepsy 靶向AASS可缓解神经毒性并改善吡哆醇依赖性癫痫星形胶质细胞模型的线粒体功能

Molecular Therapy Nucleic Acids

IF6.1

2025-09-30

OAAI

Imke M.E. Schuurmans; Udo Engelke; Muna Abedrabbo; Sofía Puvogel; Rachel Mijdam; Gijs-Jan Scholten; Sara B. van Katwijk; Astrid Oudakker; Hilal H. Al-Shekaili; Dirk J. Lefeber; Blair R. Leavitt; Clara D.M. van Karnebeek; Nael Nadif Kasri; Alejandro Garanto

Glycoproteomics analysis of complement factor H and its complement-regulatory function during Streptococcus pneumoniae-associated hemolytic uremic syndrome 肺炎链球菌相关溶血尿毒综合征中补体因子H的糖蛋白质组学分析及其补体调节功能

Frontiers in Immunology

IF5.9

2025-08-21

OAAI

Laura M. Baas; Kioa L. Wijnsma; Fokje Zijlstra; Nicole C. A. J. van de Kar; Lieke ter Steeg; Antonia H. M. Bouts; Marloes A. H. M. Michels; Jeroen D. Langereis; Dirk Lefeber; Hans J. C. T. Wessels†; Lambertus P. van den Heuvel†

Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance 基于成像流式细胞术的细胞筛选阐明了具有Uncertain Significance Variants个体的病理生理学。

GENOME MEDICINE

IF11.2

2025-02-07

OAAI

Muffels, Irena Josephina Johanna; Waterham, Hans R.; D'Alessandro, Giuseppina; Zagnoli-Vieira, Guido; Sacher, Michael; Lefeber, Dirk J.; van der Vinne, Celine; Roifman, Chaim M.; Gassen, Koen L. I.; Rehmann, Holger; Van Haaften-Visser, Desiree Y.; Nieuwenhuis, Edward S. S.; Jackson, Stephen P.; Fuchs, Sabine A.; Wijk, Femke; van Hasselt, Peter

Glycosylation as new molecular mechanism underlying Pediatric Inflammatory Bowel Disease

JOURNAL OF CROHNS & COLITIS

IF8.7

2025-01-22

PREAI

Amorim, R.; Santos-Pereira, B.; Dias, A. M.; Pinto, B. Sousa; Lefeber, D. J.; Espinheira, C.; Trindade, E.; Carneiro, F.; Gaifem, J.; Pinho, S.

SLC10A7 regulates O-GalNAc glycosylation and Ca2+ homeostasis in the secretory pathway: insights into SLC10A7-CDG

CELLULAR AND MOLECULAR LIFE SCIENCES

IF6.2

2025-01-08

OAAI

Durin, Zoe; Layotte, Aurore; Morelle, Willy; Houdou, Marine; Folcher, Antoine; Legrand, Dominique; Lefeber, Dirk; Prevarskaya, Natalia; Von Blume, Julia; Cormier-Daire, Valerie; Foulquier, Francois

New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse 由于ALDH7A1缺乏引起的吡哆醇依赖性癫痫的新疗法：小鼠中上游酶抑制的首个原理验证

BRAIN COMMUNICATIONS

IF4.5

2025-01-01

OAAI

van Karnebeek, Clara D. M.; Gailus-Durner, Valerie; Engelke, Udo F.; Seisenberger, Claudia; Marschall, Susan; Dragano, Nathalia R., V; da Silva-Buttkus, Patricia; Leuchtenberger, Stefanie; Fuchs, Helmut; Hrabe de Angelis, Martin; Wevers, Ron A.; Coughlin, Curtis R.; Lefeber, Dirk J.

Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing 基因组和RNA测序对于揭示与缺陷ATP6AP1 mRNA加工相关的隐性内含子变体至关重要

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-07-01

PREAI

Morales-Romero, Blai; Munoz-Pujol, Gerard; Artuch, Rafael; Garcia-Cazorla, Angels; O'Callaghan, Mar; Sykut-Cegielska, Jolanta; Campistol, Jaume; Moreno-Lozano, Pedro Juan; Oud, Machteld M.; Wevers, Ron A.; Lefeber, Dirk J.; Esteve-Codina, Anna; Yepez, Vicente A.; Gagneur, Julien; Wortmann, Saskia B.; Prokisch, Holger; Ribes, Antonia; Garcia-Villoria, Judit; Tort, Frederic

Plasma glycoproteomics delivers high-specificity disease biomarkers by detecting site-specific glycosylation abnormalities 血浆糖蛋白质组学通过检测位点特异性糖基化异常提供高特异性疾病生物标志物

JOURNAL OF ADVANCED RESEARCH

IF13

2024-07-01

OAAI

Wessels, Hans J. C. T.; Kulkarni, Purva; van Dael, Maurice; Suppers, Anouk; Willems, Esther; Zijlstra, Fokje; Kragt, Else; Gloerich, Jolein; Schmit, Pierre-Olivier; Pengelley, Stuart; Marx, Kristina; Gool, Alain J. van; Lefeber, Dirk J.

Maximizing Glycoproteomics Results through an Integrated Parallel Accumulation Serial Fragmentation Workflow

ANALYTICAL CHEMISTRY

IF6.7

2024-05-22

OAAI

Baerenfaenger, Melissa; Post, Merel A.; Zijlstra, Fokje; van Gool, Alain J.; Lefeber, Dirk J.; Wessels, Hans J. C. T.

Mixed-phase weak anion-exchange/reversed-phase LC-MS/MS for analysis of nucleotide sugars in human fibroblasts

ANALYTICAL AND BIOANALYTICAL CHEMISTRY

IF3.8

2024-04-27

OAAI

Rahm, Moritz; Kwast, Hanneke; Wessels, Hans J. C. T.; Noga, Marek J.; Lefeber, Dirk J.

N-linked glycosylation of the M-protein variable region: glycoproteogenomics reveals a new layer of personalized complexity in multiple myeloma M蛋白可变区的N-连接糖基化: 糖蛋白质组学揭示多发性骨髓瘤中个性化复杂性的新层

CLINICAL CHEMISTRY AND LABORATORY MEDICINE

IF3.7

2024-02-09

OAAI

Langerhorst, Pieter; Baerenfaenger, Melissa; Kulkarni, Purva; Nadal, Simon; Wijnands, Charissa; Post, Merel A.; Noori, Somayya; Vanduijn, Martijn M.; Joosten, Irma; Dejoie, Thomas; van Gool, Alain J.; Gloerich, Jolein; Lefeber, Dirk J.; Wessels, Hans J. C. T.; Jacobs, Joannes F. M.

Isotopic Tracing of Nucleotide Sugar Metabolism in Human Pluripotent Stem Cells

CELLS

IF5.2

2023-07-03

OAAI

Conte, Federica; Noga, Marek J.; van Scherpenzeel, Monique; Veizaj, Raisa; Scharn, Rik; Juda-El Sam; Palumbo, Chiara; van den Brandt, Frans C. A.; Freund, Christian; Soares, Eduardo; Zhou, Huiqing; Lefeber, Dirk J.

研究方向