Schlotawa L - Search Results

1

Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.

Schlotawa L, Tyka K, Kettwig M, Ahrens-Nicklas RC, Baud M, Berulava T, Brunetti-Pierri N, Gagne A, Herbst ZM, Maguire JA, Monfregola J, Pena T, Radhakrishnan K, Schröder S, Waxman EA, Ballabio A, Dierks T, Fischer A, French DL, Gelb MH, Gärtner J. Schlotawa L, et al. EMBO Mol Med. 2023 Mar 8;15(3):e14837. doi: 10.15252/emmm.202114837. Epub 2023 Feb 15. EMBO Mol Med. 2023. PMID: 36789546 Free PMC article.

2

A152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction.

Lopez A, Lee SE, Wojta K, Ramos EM, Klein E, Chen J, Boxer AL, Gorno-Tempini ML, Geschwind DH, Schlotawa L, Ogryzko NV, Bigio EH, Rogalski E, Weintraub S, Mesulam MM; Tauopathy Genetics Consortium; Fleming A, Coppola G, Miller BL, Rubinsztein DC. Lopez A, et al. Among authors: schlotawa l. Brain. 2017 Apr 1;140(4):1128-1146. doi: 10.1093/brain/awx005. Brain. 2017. PMID: 28334843 Free PMC article.

3

Increase of doxorubicin-induced apoptosis after knock-down of gonadotropin-releasing hormone receptor expression in human endometrial, ovarian and breast cancer cells.

Fister S, Schlotawa L, Günthert AR, Emons G, Gründker C. Fister S, et al. Among authors: schlotawa l. Gynecol Endocrinol. 2008 Jan;24(1):24-9. doi: 10.1080/09513590701668882. Gynecol Endocrinol. 2008. PMID: 17943530 Free article.

4

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. Hum Mutat. 2008 Jan;29(1):205. doi: 10.1002/humu.9515. Hum Mutat. 2008. PMID: 18157819

5

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. Among authors: schlotawa l. 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.

6

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. 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.

7

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. 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.

8

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: schlotawa l. 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

9

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: schlotawa l. 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.

10

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. 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.

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