Dierks T - Search Results

1

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.

Staretz-Chacham O, Schlotawa L, Wormser O, Golan-Tripto I, Birk OS, Ferreira CR, Dierks T, Radhakrishnan K. Staretz-Chacham O, et al. Among authors: dierks t. Mol Genet Genomic Med. 2020 Sep;8(9):e1167. doi: 10.1002/mgg3.1167. Epub 2020 Feb 12. Mol Genet Genomic Med. 2020. PMID: 32048457 Free PMC article.

2

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: dierks t. 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.

3

Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease.

Jaszczuk I, Schlotawa L, Dierks T, Ohlenbusch A, Koppenhöfer D, Babicz M, Lejman M, Radhakrishnan K, Ługowska A. Jaszczuk I, et al. Among authors: dierks t. Mol Genet Metab. 2017 Jul;121(3):252-258. doi: 10.1016/j.ymgme.2017.05.013. Epub 2017 May 22. Mol Genet Metab. 2017. PMID: 28566233

4

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.

Adang LA, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, Silva TO, Schwartz IVD, Gärtner J, De Castro M, Costin C, Montgomery EF, Dierks T, Radhakrishnan K, Ahrens-Nicklas RC. Adang LA, et al. Among authors: dierks t. J Inherit Metab Dis. 2020 Nov;43(6):1298-1309. doi: 10.1002/jimd.12298. Epub 2020 Aug 20. J Inherit Metab Dis. 2020. PMID: 32749716 Free PMC article.

5

Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.

Schlotawa L, Steinfeld R, von Figura K, Dierks T, Gärtner J. Schlotawa L, et al. Among authors: dierks t. Hum Mutat. 2008 Jan;29(1):205. doi: 10.1002/humu.9515. Hum Mutat. 2008. PMID: 18157819

6

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.

Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B. Dierks T, et al. Biochim Biophys Acta. 2009 Apr;1793(4):710-25. doi: 10.1016/j.bbamcr.2008.11.015. Epub 2008 Dec 10. Biochim Biophys Acta. 2009. PMID: 19124046 Free article. Review.

7

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: dierks t. 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.

8

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.

Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA. Ahrens-Nicklas R, et al. Among authors: dierks t. Mol Genet Metab. 2018 Mar;123(3):337-346. doi: 10.1016/j.ymgme.2018.01.005. Epub 2018 Jan 31. Mol Genet Metab. 2018. PMID: 29397290 Free PMC article.

9

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: dierks t. 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.

10

Proprotein convertases process and thereby inactivate formylglycine-generating enzyme.

Ennemann EC, Radhakrishnan K, Mariappan M, Wachs M, Pringle TH, Schmidt B, Dierks T. Ennemann EC, et al. Among authors: dierks t. J Biol Chem. 2013 Feb 22;288(8):5828-39. doi: 10.1074/jbc.M112.405159. Epub 2013 Jan 3. J Biol Chem. 2013. PMID: 23288839 Free PMC article.

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