Author Schlotawa, Lars
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2001 | Journal Article
Protein kinase C-independent stimulation of activator protein-1 and c-Jun N-terminal kinase activity in human endometrial cancer cells by the LHRH agonist triptorelin
Grundker, C. ; Schlotawa, L.; Viereck, V. & Emons, G. (2001)
European Journal of Endocrinology, 145(5) pp. 651-658. DOI: https://doi.org/10.1530/eje.0.1450651
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2004 | Journal Article
Antiproliferative effects of the GnRH antagonist cetrorelix and of GnRH-II on human endometrial and ovarian cancer cells are not mediated through the GnRH type I receptor
Grundker, C.; Schlotawa, L.; Viereck, V.; Eicke, N.; Horst, A.; Kairies, B. & Emons, G. (2004)
European Journal of Endocrinology, 151(1) pp. 141-149. DOI: https://doi.org/10.1530/eje.0.1510141
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2007 | Conference Abstract
Molecular and clinical characterization of multiple suleatase deficiency causing mutations in the formylglycine-generating enzyme
Schlotawa, L.; Steinfeld, R.; von Figura, K.; Dierks, T. & Gaertner, J. (2007)
Journal of Inherited Metabolic Disease, 30
Dordrecht: Springer.
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2008 | Conference Abstract
Disease severity in multiple suleatase deficiency is determined by stability and residual activity of mutant formyl-glycine-generating enzyme
Schlotawa, L.; Dierks, T.; Schmidt, B. & Gaertner, J. (2008)
Journal of Inherited Metabolic Disease, 31
Dordrecht: Springer.
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2008 | Journal Article
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.; Gunthert, A. R.; Emons, G. & Gründker, C. (2008)
Gynecological Endocrinology, 24(1) pp. 24-29. DOI: https://doi.org/10.1080/09513590701668882
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2009 | Review
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, M.-A.; Radhakrishnan, K.; von Figura, K. & Schmidt, B. (2009)
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 1793(4) pp. 710-725.
Elsevier Science Bv. DOI: https://doi.org/10.1016/j.bbamcr.2008.11.015
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2010 | Conference Abstract
FUNCTIONAL CHARACTERIZATION OF TWO NOVEL SUMF1 MUTATIONS LEADING TO A MILD PHENOTYPE IN MULTIPLE SULFATASE DEFICIENCY
Schlotawa, L.; Radhakrishnan, K.; Schmid, R.; Schmidt, B. ; Dierks, T.; Gaertner, J. & Baumgartner, M. (2010)
Journal of Inherited Metabolic Disease, 33
Dordrecht: Springer.
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2011 | Journal Article | Research Paper |
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency
Schlotawa, L.; Ennemann, E. C.; Radhakrishnan, K.; Schmidt, B. ; Chakrapani, A.; Christen, H.-J. & Moser, H. et al. (2011)
European Journal of Human Genetics, 19(3) pp. 253-261. DOI: https://doi.org/10.1038/ejhg.2010.219
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2013 | Journal Article | Research Paper |
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. (2013)
European Journal of Human Genetics, 21(9) pp. 1020-1023. DOI: https://doi.org/10.1038/ejhg.2012.291
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2013 | Journal Article | Letter Note
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation
Schlotawa, L.; Hotz, A.; Zeschnigk, C.; Hartmann, B.; Gärtner, J. & Morris-Rosendahl, D. (2013)
Journal of Neurology, 260(6) pp. 1678-1680. DOI: https://doi.org/10.1007/s00415-013-6941-z
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2014 | Journal Article | Research Paper
The expanding clinical and genetic spectrum of ATP1A3-related disorders
Rosewich, H. ; Ohlenbusch, A. ; Huppke, P. ; Schlotawa, L.; Baethmann, M.; Carrilho, I. & Fiori, S. et al. (2014)
Neurology, 82(11) pp. 945-955. DOI: https://doi.org/10.1212/WNL.0000000000000212
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2017 | Journal Article
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. et al. (2017)
Molecular Genetics and Metabolism, 121(3) pp. 252-258. DOI: https://doi.org/10.1016/j.ymgme.2017.05.013
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2018 | Journal Article
Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase
Schlotawa, L.; Wachs, M.; Bernhard, O. ; Mayer, F. J.; Dierks, T.; Schmidt, B. & Radhakrishnan, K. (2018)
Cell Reports, 24(1) pp. 27-37.e4. DOI: https://doi.org/10.1016/j.celrep.2018.06.016
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2018 | Journal Article
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. et al. (2018)
Molecular Genetics and Metabolism, 123(3) pp. 337-346. DOI: https://doi.org/10.1016/j.ymgme.2018.01.005
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2019 | Journal Article
A natural history study of multiple sulfatase deficiency
Ahrens-Nicklas, R.; Adang, L.; Sherbini, O.; Goodspeed, K.; Hughes, S.; Finglas, A. & Olsen, A. et al. (2019)
Molecular Genetics and Metabolism, 126(2) pp. S21-S22. DOI: https://doi.org/10.1016/j.ymgme.2018.12.030
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2019 | Journal Article
Improved description of clinical features of multiple sulfatase deficiency: A meta-analysis of published cases
Schlotawa, L.; Preiskorn, J.; Ahrens-Nicklas, R.; Adang, L. A.; Gärtner, J. & Friede, T. (2019)
Molecular Genetics and Metabolism, 126(2) pp. S131. DOI: https://doi.org/10.1016/j.ymgme.2018.12.337
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2019 | Journal Article
Attenuated multiple sulfatase deficiency: Description of two Brazilian patients showing interesting clinical and genetic findings
Silva, T. O.; Souza, C. F.; Rocha, J. W.; Brusius-Facchin, A. C.; Michellin-Tirelli, K.; Burin, M. G. & Giugliani, R. et al. (2019)
Molecular Genetics and Metabolism, 126(2) pp. S135-S136. DOI: https://doi.org/10.1016/j.ymgme.2018.12.349
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2019 | Journal Article
Protein disulfide isomerase is a possible target for disease modification in multiple sulfatase deficiency
Schlotawa, L.; Wachs, M.; Bernhard, O. ; Mayer, F. J.; Dierks, T.; Schmidt, B. & Radhakrishnan, K. (2019)
Molecular Genetics and Metabolism, 126(2) pp. S131-S132. DOI: https://doi.org/10.1016/j.ymgme.2018.12.338
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2019 | Journal Article |
Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient
Schlotawa, L.; Dierks, T.; Christoph, S.; Cloppenburg, E.; Ohlenbusch, A.; Korenke, G. C. & Gärtner, J. (2019)
JIMD Reports, 49(1) pp. 48-52. DOI: https://doi.org/10.1002/jmd2.12074
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2020 | Journal Article
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease
Adang, L. A.; Schlotawa, L.; Groeschel, S.; Kehrer, C.; Harzer, K.; Staretz‐Chacham, O. & Silva, T. O. et al. (2020)
Journal of Inherited Metabolic Disease, 43(6) pp. 1298-1309. DOI: https://doi.org/10.1002/jimd.12298
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