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7 Publikationen

2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2918283
Wieczorek, A., et al., 2018. Genetically modified human type II collagen for N- and C-terminal covalent tagging. CANADIAN JOURNAL OF CHEMISTRY, 96(2), p 204-211.
PUB | DOI | WoS
 
2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916520
Jaszczuk, I., et al., 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), p 252-258.
PUB | DOI | WoS | PubMed | Europe PMC
 
2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2780450
Peng, J., et al., 2015. Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction. FEBS Journal, 282(17), p 3262-3274.
PUB | DOI | WoS | PubMed | Europe PMC
 
2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2625696
Schlotawa, L., et al., 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), p 1020-1023.
PUB | DOI | WoS | PubMed | Europe PMC
 
2011 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2003211
Schlotawa, L., et al., 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), p 253-261.
PUB | DOI | WoS | PubMed | Europe PMC
 
2009 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 1634198
Dierks, T., et al., 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), p 710-725.
PUB | DOI | WoS | PubMed | Europe PMC
 
2008 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 1592488
Gande, S.L., et al., 2008. Paralog of the formylglycine-generating enzyme - retention in the endoplasmic reticulum by canonical and noncanonical signals. FEBS JOURNAL, 275(6), p 1118-1130.
PUB | DOI | WoS | PubMed | Europe PMC
 

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