Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation
Sakson, Roman, Beedgen, Lars, Bernhard, Patrick, Alp, K Merve, Lübbehusen, Nicole, Röth, Ralph, Niesler, Beate, Luzarowski, Marcin, Shevchuk, Olga, Mayer, Matthias P, Thiel, Christian, Ruppert, Thomas
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Published in International journal of molecular sciences (01.01.2024)
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Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects
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Quantification of Dolichyl Phosphates Using Phosphate Methylation and Reverse-Phase Liquid Chromatography–High Resolution Mass Spectrometry
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A rapid and simple procedure for the isolation and cultivation of fibroblast-like cells from medaka and zebrafish embryos and fin clip biopsies
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A patient-based medaka alg2 mutant as a model for hypo- N -glycosylation
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Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria
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Published in Human mutation (01.07.2019)
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Simple, rapid, and sensitive quantification of dolichyl phosphates using phosphate methylation and reverse-phase liquid chromatography-high resolution mass spectrometry
Kale, Dipali, Kikul, Frauke, Prasad Phapale, Beedgen, Lars, Thiel, Christian, Bruegger, Britta
Published in bioRxiv (15.09.2022)
Published in bioRxiv (15.09.2022)
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The medaka alg2 mutant is a model for hypo-N-glycosylation-associated retinitis pigmentosa
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Published in bioRxiv (24.08.2020)
Published in bioRxiv (24.08.2020)
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Targeted Proteomics Reveals Quantitative Differences in Low Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation
Sakson, Roman, Beedgen, Lars, Bernhard, Patrick, Alp, Keziban M, Lübbehusen, Nicole, Röth, Ralph, Niesler, Beate, Mayer, Matthias P, Thiel, Christian, Ruppert, Thomas
Published in bioRxiv (16.09.2020)
Published in bioRxiv (16.09.2020)
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