16 Publikationen

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  • [16]
    2023 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2969064 OA
    Schlotawa, 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.202114837
    PUB | PDF | DOI | WoS | PubMed | Europe PMC
     
  • [15]
    2023 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2984919
    Adang, 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.26747
    PUB | DOI | WoS
     
  • [14]
    2023 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2983995
    Adang, 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.12688
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [13]
    2023 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2982791
    Schlotawa, 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.2022.107308
    PUB | DOI | WoS
     
  • [12]
    2022 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2967883
    Sorrentino, 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.12577
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [11]
    2022 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2963808
    Tricoli, L., Vanderver, A., Adang, L., Chappell, M., Breda, L., Tanaka, N., Wenger, D., et al. (2022). Improved Gene Therapy for Metachromatic Leukodystrophy. Molecular Therapy , 30(4), 415-416.
    PUB | WoS
     
  • [10]
    2021 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2965537
    Tricoli, 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-2021-150986
    PUB | DOI | WoS
     
  • [9]
    2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2943713 OA
    Schlotawa, 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/ijms21103448
    PUB | PDF | DOI | Download (ext.) | WoS | PubMed | Europe PMC
     
  • [8]
    2020 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2945204
    Adang, 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.12298
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [7]
    2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2941491 OA
    Staretz-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/mgg3.1167
    PUB | PDF | DOI | WoS | PubMed | Europe PMC
     
  • [6]
    2019 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2933913
    Schlotawa, 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.2018.12.338
    PUB | DOI | WoS
     
  • [5]
    2019 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2933914
    Silva, 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.2018.12.349
    PUB | DOI | WoS
     
  • [4]
    2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2921018 OA
    Schlotawa, 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.2018.06.016
    PUB | PDF | DOI | WoS | PubMed | Europe PMC
     
  • [3]
    2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916520
    Jaszczuk, 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.2017.05.013
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [2]
    2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2780450
    Peng, 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.13347
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [1]
    2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2625696
    Schlotawa, 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.2012.291
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