Susanne Zielke
University of Rostock
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Featured researches published by Susanne Zielke.
Scientific Reports | 2017
Claudia Cozma; Marius-Ionuț Iurașcu; Sabrina Eichler; Marina Hovakimyan; Oliver Brandau; Susanne Zielke; Tobias Böttcher; Anne-Katrin Giese; Jan Lukas; Arndt Rolfs
Farber disease (FD) is a rare autosomal recessive disease caused by mutations in the acid ceramidase gene (ASAH1). Low ceramidase activity results in the accumulation of fatty substances, mainly ceramides. Hallmark symptoms at clinical level are periarticular nodules, lipogranulomas, swollen and painful joints and a hoarse voice. FD phenotypes are heterogeneous varying from mild to very severe cases, with the patients not surviving past their first year of life. The diagnostic aspects of FD are poorly developed due to the rarity of the disease. In the present study, the screening for ceramides and related molecules was performed in Farber affected patients (n = 10), carriers (n = 11) and control individuals (n = 192). This study has the highest number of enrolled Farber patients and carriers reported to present. Liquid chromatography multiple reaction mass spectrometry (LC/MRM-MS) studies revealed that the ceramide C26:0 and especially its isoform 1 is a highly sensitive and specific biomarker for FD (p < 0.0001). The new biomarker can be determined directly in the dried blood spot extracts with low sample consumption. This allows for easy sample preparation, high reproducibility and use in high throughput screenings.
Molecular Genetics and Metabolism | 2017
Arndt Rolfs; Gabriela Oprea; Guido Kramp; Anne-Katrin Giese; Susanne Zielke; Jan Lukas; Claudia Cozma
Molecular Genetics and Metabolism | 2018
Claudia Cozma; Susanne Zielke; Marius Iurascu; Laura Demuth; Arndt Rolfs
Molecular Genetics and Metabolism | 2018
Claudia Cozma; Marius Iurascu; Gabriela Oprea; Jan Lukas; Susanne Zielke; Arndt Rolfs
Molecular Genetics and Metabolism | 2018
Arndt Rolfs; Marius Iurascu; Marina Hovakimyan; Susanne Zielke; Claudia Cozma
Molecular Genetics and Metabolism | 2018
Claudia Cozma; Marius Iurascu; Gabriela Oprea; Jan Lukas; Susanne Zielke; Anne-Katrin Giese; Arndt Rolfs
Archive | 2017
Arndt Rolfs; Anne-Katrin Giese; Susanne Zielke; Claudia Cozma
Archive | 2017
Claudia Cozma; Peter Bauer; Gabriela-Elena Oprea; Jan Lukas; Susanne Zielke; Arndt Rolfs
Archive | 2017
Claudia Cozma; Marina Hovakimyan; Jan Lukas; Susanne Zielke; Arndt Rolfs
Molecular Genetics and Metabolism | 2017
Claudia Cozma; Guido Kramp; Anne-Katrin Giese; Susanne Zielke; Arndt Rolfs