Schmidt B - Search Results

1

SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.

Schlotawa L, Ennemann EC, Radhakrishnan K, Schmidt B, Chakrapani A, Christen HJ, Moser H, Steinmann B, Dierks T, Gärtner J. Schlotawa L, et al. Among authors: schmidt b. Eur J Hum Genet. 2011 Mar;19(3):253-61. doi: 10.1038/ejhg.2010.219. Epub 2011 Jan 12. Eur J Hum Genet. 2011. PMID: 21224894 Free PMC article.

2

ERp44 mediates a thiol-independent retention of formylglycine-generating enzyme in the endoplasmic reticulum.

Mariappan M, Radhakrishnan K, Dierks T, Schmidt B, von Figura K. Mariappan M, et al. Among authors: schmidt b. J Biol Chem. 2008 Mar 7;283(10):6375-83. doi: 10.1074/jbc.M709171200. Epub 2008 Jan 4. J Biol Chem. 2008. PMID: 18178549 Free article.

3

Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.

Schlotawa L, Radhakrishnan K, Baumgartner M, Schmid R, Schmidt B, Dierks T, Gärtner J. Schlotawa L, et al. Among authors: schmidt b. Eur J Hum Genet. 2013 Sep;21(9):1020-3. doi: 10.1038/ejhg.2012.291. Epub 2013 Jan 16. Eur J Hum Genet. 2013. PMID: 23321616 Free PMC article.

4

Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase.

Schlotawa L, Wachs M, Bernhard O, Mayer FJ, Dierks T, Schmidt B, Radhakrishnan K. Schlotawa L, et al. Among authors: schmidt b. Cell Rep. 2018 Jul 3;24(1):27-37.e4. doi: 10.1016/j.celrep.2018.06.016. Cell Rep. 2018. PMID: 29972788 Free article.

5

Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.

Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M, von Figura K. Dierks T, et al. Among authors: schmidt b. Cell. 2003 May 16;113(4):435-44. doi: 10.1016/s0092-8674(03)00347-7. Cell. 2003. PMID: 12757705 Free article.

6

The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes.

Landgrebe J, Dierks T, Schmidt B, von Figura K. Landgrebe J, et al. Among authors: schmidt b. Gene. 2003 Oct 16;316:47-56. doi: 10.1016/s0378-1119(03)00746-7. Gene. 2003. PMID: 14563551

7

Molecular characterization of the human Calpha-formylglycine-generating enzyme.

Preusser-Kunze A, Mariappan M, Schmidt B, Gande SL, Mutenda K, Wenzel D, von Figura K, Dierks T. Preusser-Kunze A, et al. Among authors: schmidt b. J Biol Chem. 2005 Apr 15;280(15):14900-10. doi: 10.1074/jbc.M413383200. Epub 2005 Jan 18. J Biol Chem. 2005. PMID: 15657036 Free article.

8

Crystal structure of human pFGE, the paralog of the Calpha-formylglycine-generating enzyme.

Dickmanns A, Schmidt B, Rudolph MG, Mariappan M, Dierks T, von Figura K, Ficner R. Dickmanns A, et al. Among authors: schmidt b. J Biol Chem. 2005 Apr 15;280(15):15180-7. doi: 10.1074/jbc.M414317200. Epub 2005 Feb 1. J Biol Chem. 2005. PMID: 15687489 Free article.

9

Expression, localization, structural, and functional characterization of pFGE, the paralog of the Calpha-formylglycine-generating enzyme.

Mariappan M, Preusser-Kunze A, Balleininger M, Eiselt N, Schmidt B, Gande SL, Wenzel D, Dierks T, von Figura K. Mariappan M, et al. Among authors: schmidt b. J Biol Chem. 2005 Apr 15;280(15):15173-9. doi: 10.1074/jbc.M413698200. Epub 2005 Feb 11. J Biol Chem. 2005. PMID: 15708861 Free article.

10

Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.

Dierks T, Dickmanns A, Preusser-Kunze A, Schmidt B, Mariappan M, von Figura K, Ficner R, Rudolph MG. Dierks T, et al. Among authors: schmidt b. Cell. 2005 May 20;121(4):541-552. doi: 10.1016/j.cell.2005.03.001. Cell. 2005. PMID: 15907468 Free article.

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