16 Publikationen
-
2023 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2969064Schlotawa, L., Tyka, K., Kettwig, M., Ahrens-Nicklas, R. C., Baud, M., Berulava, T., Brunetti-Pierri, N., et al. (2023). Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency. EMBO Molecular Medicine, e14837. https://doi.org/10.15252/emmm.202114837PUB | PDF | DOI | WoS | PubMed | Europe PMC
-
2023 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2984919Adang, L., Herbst, Z. (A. ) M., Zhou, Z., Schlotawa, L., Radhakrishnan, K., Mowafi, S., Bentley, B., et al. (2023). Differential Post-Translational Sulfatase Activation Correlates with Disease Severity in Multiple Sulfatase Deficiency. Annals of Neurology , 94(S 30), S220-S221. https://doi.org/10.1002/ana.26747PUB | DOI | WoS
-
2023 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2983995Adang, L. A., Mowafy, S., Herbst, Z. M., Zhou, Z., Schlotawa, L., Radhakrishnan, K., Bentley, B., et al. (2023). Biochemical signatures of disease severity in Multiple Sulfatase Deficiency. Journal of Inherited Metabolic Disease . https://doi.org/10.1002/jimd.12688PUB | DOI | WoS | PubMed | Europe PMC
-
2023 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2982791Schlotawa, L., Kettwig, M., Ahrens-Nicklas, R., Baud, M., Brunetti-Pierri, N., Gagne, A., Schroeder, S., et al. (2023). Screening of approved drugs identifies 3rd generation retinoids as in vitro therapeutic agents in multiple sulfatase deficiency. Program and Abstracts WORLDSymposiumTM 2023* 19th Annual Research Meeting & Scientific Sessions, Molecular Genetics and Metabolism, 138, 117-118. San Diego: Elsevier. https://doi.org/10.1016/j.ymgme.2022.107308PUB | DOI | WoS
-
2022 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2967883Sorrentino, N. C., Presa, M., Attanasio, S., Cacace, V., Sofia, M., Zuberi, A., Ryan, J., et al. (2022). New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency. Journal of Inherited Metabolic Disease. https://doi.org/10.1002/jimd.12577PUB | DOI | WoS | PubMed | Europe PMC
-
-
2021 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2965537Tricoli, L., Vanderver, A., Adang, L., Chappel, M., Breda, L., Tanaka, N., Triebwasser, M., et al. (2021). Improved Gene Therapy for Metachromatic Leukodystrophy. 63rd ASH Annual Meeting Abstracts. Poster Abstracts, Blood, 138 Washington: Amer Soc Hematology. https://doi.org/10.1182/blood-2021-150986PUB | DOI | WoS
-
2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2943713Schlotawa, L., Adang, L. A., Radhakrishnan, K., & Ahrens-Nicklas, R. C. (2020). Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification. International journal of molecular sciences, 21(10), 3448. https://doi.org/10.3390/ijms21103448PUB | PDF | DOI | Download (ext.) | WoS | PubMed | Europe PMC
-
2020 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2945204Adang, L. A., Schlotawa, L., Groeschel, S., Kehrer, C., Harzer, K., Staretz-Chacham, O., Oliveira Silva, T., et al. (2020). Natural history of multiple sulfatase deficiency: retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease. Journal of inherited metabolic disease. doi:10.1002/jimd.12298PUB | DOI | WoS | PubMed | Europe PMC
-
2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2941491Staretz-Chacham, O., Schlotawa, L., Wormser, O., Golan-Tripto, I., Birk, O. S., Ferreira, C. R., Dierks, T., et al. (2020). A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency. Molecular genetics & genomic medicine, 8(9), e1167. doi:10.1002/mgg3.1167PUB | PDF | DOI | WoS | PubMed | Europe PMC
-
2019 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2933913Schlotawa, L., Wachs, M., Bernhard, O., Mayer, F. J., Dierks, T., Schmidt, B., & Radhakrishnan, K. (2019). Protein disulfide isomerase is a possible target for disease modification in multiple sulfatase deficiency. MOLECULAR GENETICS AND METABOLISM, MOLECULAR GENETICS AND METABOLISM, 126, S131-S132. San Diego: ACADEMIC PRESS INC ELSEVIER SCIENCE. doi:10.1016/j.ymgme.2018.12.338PUB | DOI | WoS
-
2019 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2933914Silva, T. O., Souza, C. F. M., Rocha, J. W. B., Brusius-Facchin, A. C., Michellin-Tirelli, K., Burin, M. G., Giugliani, R., et al. (2019). Attenuated multiple sulfatase deficiency: Description of two Brazilian patients showing interesting clinical and genetic findings. MOLECULAR GENETICS AND METABOLISM, MOLECULAR GENETICS AND METABOLISM, 126, S135-S136. ACADEMIC PRESS INC ELSEVIER SCIENCE,. doi:10.1016/j.ymgme.2018.12.349PUB | DOI | WoS
-
2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2921018Schlotawa, L., Wachs, M., Bernhard, O., Mayer, F. J., Dierks, T., Schmidt, B., & Radhakrishnan, K. (2018). Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase. Cell Reports, 24(1), 27-37.e4. doi:10.1016/j.celrep.2018.06.016PUB | PDF | DOI | WoS | PubMed | Europe PMC
-
2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916520Jaszczuk, I., Schlotawa, L., Dierks, T., Ohlenbusch, A., Koppenhoefer, D., Babicz, M., Lejman, M., et al. (2017). Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease. MOLECULAR GENETICS AND METABOLISM, 121(3), 252-258. doi:10.1016/j.ymgme.2017.05.013PUB | DOI | WoS | PubMed | Europe PMC
-
2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2780450Peng, J., Alam, S., Radhakrishnan, K., Mariappan, M., Rudolph, M. G., May, C., Dierks, T., et al. (2015). Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction. FEBS Journal, 282(17), 3262-3274. doi:10.1111/febs.13347PUB | DOI | WoS | PubMed | Europe PMC
-
2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2625696Schlotawa, L., Radhakrishnan, K., Baumgartner, M., Schmid, R., Schmidt, B., Dierks, T., & Gaertner, J. (2013). Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency. European Journal Of Human Genetics, 21(9), 1020-1023. doi:10.1038/ejhg.2012.291PUB | DOI | WoS | PubMed | Europe PMC