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7 Publikationen

2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2918283
Wieczorek, A., Chan, C. K., Kovacic, S., Li, C., Dierks, T., and Forde, N. R. (2018). Genetically modified human type II collagen for N- and C-terminal covalent tagging. CANADIAN JOURNAL OF CHEMISTRY 96, 204-211.
PUB | DOI | WoS
 
2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916520
Jaszczuk, I., Schlotawa, L., Dierks, T., Ohlenbusch, A., Koppenhoefer, D., Babicz, M., Lejman, M., Radhakrishnan, K., and Lugowska, A. (2017). Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease. MOLECULAR GENETICS AND METABOLISM 121, 252-258.
PUB | DOI | WoS | PubMed | Europe PMC
 
2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2780450
Peng, J., Alam, S., Radhakrishnan, K., Mariappan, M., Rudolph, M. G., May, C., Dierks, T., von Figura, K., and Schmidt, B. (2015). Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction. FEBS Journal 282, 3262-3274.
PUB | DOI | WoS | PubMed | Europe PMC
 
2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2625696
Schlotawa, L., Radhakrishnan, K., Baumgartner, M., Schmid, R., Schmidt, B., Dierks, T., and Gaertner, J. (2013). Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency. European Journal Of Human Genetics 21, 1020-1023.
PUB | DOI | WoS | PubMed | Europe PMC
 
2011 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2003211
Schlotawa, L., Ennemann, E., Radhakrishnan, K., Schmidt, B., Chakrapani, A., Christen, H. - J., Moser, H., Steinmann, B., Dierks, T., and Gaertner, J. (2011). SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency. European Journal of Human Genetics 19, 253-261.
PUB | DOI | WoS | PubMed | Europe PMC
 
2009 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 1634198
Dierks, T., Schlotawa, L., Frese, M. - A., Radhakrishnan, K., von Figura, K., and Schmidt, B. (2009). Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH 1793, 710-725.
PUB | DOI | WoS | PubMed | Europe PMC
 
2008 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 1592488
Gande, S. L., Mariappan, M., Schmidt, B., Pringle, T. H., von Figura, K., and Dierks, T. (2008). Paralog of the formylglycine-generating enzyme - retention in the endoplasmic reticulum by canonical and noncanonical signals. FEBS JOURNAL 275, 1118-1130.
PUB | DOI | WoS | PubMed | Europe PMC
 

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