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Arthritis & Rheumatology (Hoboken, N.J.)|August 29, 2018
Structural Basis of Cross-Reactivity of Anti-Citrullinated Protein AntibodiesChangrong Ge, Bingze Xu, Bibo Liang, et al.
Molecular Genetics and Metabolism|February 13, 2022
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activityDoreen Dobritzsch, Judith Meijer, Rutger Meinsma, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|December 28, 2016
Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicingAndré B P van Kuilenburg, Judith Meijer, Dirk Maurer, et al.
The Biochemical Journal|May 4, 2002
Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structureAndré B P van Kuilenburg, Doreen Dobritzsch, Rutger Meinsma, et al.
Chembiochem : a European Journal of Chemical Biology|January 5, 2021
Discovery of an Allosteric Ligand Binding Site in SMYD3 Lysine MethyltransferaseVladimir O Talibov, Edoardo Fabini, Edward A FitzGerald, et al.
Journal of Inherited Metabolic Disease|February 15, 2014
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected]Yoko Nakajima, Judith Meijer, Doreen Dobritzsch, et al.
Biochimica Et Biophysica Acta|April 25, 2012
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patientsAndré B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
Nature Communications|April 26, 2023
Large-scale phage-based screening reveals extensive pan-viral mimicry of host short linear motifsFilip Mihalič, Leandro Simonetti, Girolamo Giudice, et al.
Human Genetics|August 31, 2010
Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicityAndré B P van Kuilenburg, Judith Meijer, Adri N P M Mul, et al.
Biochimica Et Biophysica Acta|April 6, 2010
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patientsAndré B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
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