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7 Publikationen

2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2918283
Wieczorek, A.; Chan, C. K.; Kovacic, S.; Li, C.; Dierks, T.; Forde, N. R. (2018): Genetically modified human type II collagen for N- and C-terminal covalent tagging CANADIAN JOURNAL OF CHEMISTRY,96:(2): 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.; 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:(3): 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.; Schmidt, B. (2015): Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction FEBS Journal,282:(17): 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.; 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:(9): 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.; 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:(3): 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.; 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:(4): 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.; Dierks, T. (2008): Paralog of the formylglycine-generating enzyme - retention in the endoplasmic reticulum by canonical and noncanonical signals FEBS JOURNAL,275:(6): 1118-1130.
PUB | DOI | WoS | PubMed | Europe PMC
 

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