Author Schlotawa, Lars

• 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 
  ​Details  DOI  PMID  PMC  WoS 

• 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 
  ​Details  DOI  PMID  PMC  WoS 

• 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.
  ​Details  WoS 

• 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.
  ​Details  WoS 

• 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 
  ​Details  DOI  PMID  PMC  WoS 

• 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 
  ​Details  DOI  PMID  PMC  WoS 

• 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.
  ​Details  WoS 

• 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 
  ​Details  DOI  PMID  PMC  WoS 

• 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 
  ​Details  DOI  PMID  PMC  WoS 

• 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 
  ​Details  DOI  PMID  PMC  WoS 

• 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 
  ​Details  DOI  PMID  PMC  WoS 

• 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 
  ​Details  DOI 

• 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 
  ​Details  DOI 

• 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 
  ​Details  DOI 

• 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 
  ​Details  DOI 

• 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 
  ​Details  DOI 

• 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 
  ​Details  DOI 

• 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 
  ​Details  DOI 

• 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 
  ​Details  DOI 

• 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 
  ​Details  DOI 

Researcher

Sort

Items per Page