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ACS Omega|March 10, 2020
Macrocyclic Peptides Uncover a Novel Binding Mode for Reversible Inhibitors of LSD1Jie Yang, Vladimir O Talibov, Stefan Peintner, et al.
Molecular Genetics and Metabolism|October 22, 2017
Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activityYoko Nakajima, Judith Meijer, Doreen Dobritzsch, et al.
RSC Chemical Biology|September 2, 2025
Detection and characterisation of ligand-induced conformational changes in acetylcholine binding proteins using biosensors and X-ray crystallographyEdward A FitzGerald, Daniela Cederfelt, Daria Kovryzhenko, et al.
American Journal of Medical Genetics. Part A|July 26, 2017
Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomaliesJoseph Porrmann, Elitza Betcheva-Krajcir, Nataliya Di Donato, et al.
Molecular Genetics and Metabolism|March 27, 2007
Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiencyAndré B P van Kuilenburg, Judith Meijer, Doreen Dobritzsch, et al.
RSC Advances|April 15, 2022
Discovery of fragments inducing conformational effects in dynamic proteins using a second-harmonic generation biosensorEdward A FitzGerald, Margaret T Butko, Pierre Boronat, et al.
Human Mutation|April 26, 2018
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12André B P van Kuilenburg, Maja Tarailo-Graovac, Judith Meijer, et al.
Molecular Genetics and Metabolism Reports|February 3, 2021
Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)Nina Lenherr, John Christodoulou, John Duley, et al.
JCI Insight|July 7, 2017
Anti-citrullinated protein antibodies cause arthritis by cross-reactivity to joint cartilageChangrong Ge, Dongmei Tong, Bibo Liang, et al.
Biochimica Et Biophysica Acta|January 26, 2016
Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase geneAndré B P van Kuilenburg, Judith Meijer, Michael W T Tanck, et al.
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