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• [16]
  

  2023 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2969064

  Schlotawa, L., Tyka, K., Kettwig, M., Ahrens-Nicklas, R.C., Baud, M., Berulava, T., Brunetti-Pierri, N., Gagne, A., Herbst, Z.M., Maguire, J.A., Monfregula, J., Pena, T., Radhakrishnan, K., Schroder, S., Waxman, E.A., Ballabio, A., Dierks, T., Fischer, A., French, D.L., Gelb, M.H. & Gartner, J. (2023). Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency. EMBO Molecular Medicine: e14837. EMBO Press. doi:10.15252/emmm.202114837.

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• [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., Pillai, N., Orchard, P., Costin, C., De Castro, M., Vanderver, A., Pasquali, M., Gelb, M. & Ahrens-Nicklas, R.C. (2023). Differential Post-Translational Sulfatase Activation Correlates with Disease Severity in Multiple Sulfatase Deficiency (Annals of Neurology ), 94(S 30), S220-S221. Gehalten auf der 148th Annual Meeting American-Neurological-Association (ANA), Hoboken: Wiley. doi:10.1002/ana.26747.

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• [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., Pham, V., Yu, E., Pillai, N.R., Orchard, P.J., De Castro, M., Vanderver, A., Pasquali, M., Gelb, M.H. & Ahrens-Nicklas, R.C. (2023). Biochemical signatures of disease severity in Multiple Sulfatase Deficiency. Journal of Inherited Metabolic Disease . Wiley. doi:10.1002/jimd.12688.

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• [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., Monfregula, J., Pena, T., Radhakrishnan, K., Waxman, E.A., Fischer, A., French, D.L., Gelb, M.H. & Gaertner, J. (2023). Screening of approved drugs identifies 3rd generation retinoids as in vitro therapeutic agents in multiple sulfatase deficiency (Molecular Genetics and Metabolism). Program and Abstracts WORLDSymposiumTM 2023* 19th Annual Research Meeting & Scientific Sessions (S. 117-118). Gehalten auf der WORLD SymposiumTM 2023* 19th Annual Research Meeting & Scientific Sessions, San Diego: Elsevier. doi: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., Ray, S., Petkovic, I., Radhakrishnan, K., Schlotawa, L., Ballabio, A., Lutz, C. & Brunetti-Pierri, N. (2022). New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency. Journal of Inherited Metabolic Disease. Wiley. doi:10.1002/jimd.12577.

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• [11]
  

  2022 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2963808

  Tricoli, L., Vanderver, A., Adang, L., Chappell, M., Breda, L., Tanaka, N., Wenger, D., Guerra, A., Triebwasser, M., Kurre, P., Schlotawa, L., Radhakrishnan, K., Ahrens-Nicklas, R., Hurwitz, S. & Rivella, S. (2022). Improved Gene Therapy for Metachromatic Leukodystrophy ( Molecular Therapy ), 30(4), 415-416. Gehalten auf der 25th Annual Meeting of the American Society of Gene & Cell Therapy, Cambridge: Cell Press.

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• [10]
  

  2021 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2965537

  Tricoli, L., Vanderver, A., Adang, L., Chappel, M., Breda, L., Tanaka, N., Triebwasser, M., Wenger, D., Jarocha, D.J., Guerra, A., Schlotawa, L., Radhakrishnan, K., Ahrens-Nicklas, R., Kurre, P., Hurwitz, S. & Rivella, S. (2021). Improved Gene Therapy for Metachromatic Leukodystrophy (Blood). 63rd ASH Annual Meeting Abstracts. Poster Abstracts. Washington: Amer Soc Hematology. doi:10.1182/blood-2021-150986.

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• [9]
  

  2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2943713

  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. MDPI. doi:10.3390/ijms21103448.

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• [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., Schwartz, I.V.D., Gartner, J., De Castro, M., Costin, C., Montgomery, E.F., Dierks, T., Radhakrishnan, K. & Ahrens-Nicklas, R.C. (2020). Natural history of multiple sulfatase deficiency: retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease. Journal of inherited metabolic disease. Wiley. doi:10.1002/jimd.12298.

  PUB | DOI | WoS | PubMed | Europe PMC
   
• [7]
  

  2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2941491

  Staretz-Chacham, O., Schlotawa, L., Wormser, O., Golan-Tripto, I., Birk, O.S., Ferreira, C.R., Dierks, T. & Radhakrishnan, K. (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. Wiley. doi:10.1002/mgg3.1167.

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• [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 (S. S131-S132). Gehalten auf der 15th Annual Research Meeting of the WORLDSymposium(TM), 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., Radhakrishnan, K., Schlotawa, L., Dierks, T. & Schwartz, I.V.D. (2019). Attenuated multiple sulfatase deficiency: Description of two Brazilian patients showing interesting clinical and genetic findings (MOLECULAR GENETICS AND METABOLISM). MOLECULAR GENETICS AND METABOLISM (S. S135-S136). Gehalten auf der 15th Annual Research Meeting of the WORLDSymposium(TM), ACADEMIC PRESS INC ELSEVIER SCIENCE,. doi:10.1016/j.ymgme.2018.12.349.

  PUB | DOI | WoS
   
• [4]
  

  2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2921018

  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. Elsevier BV. doi:10.1016/j.celrep.2018.06.016.

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• [3]
  

  2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916520

  Jaszczuk, I., Schlotawa, L., Dierks, T., Ohlenbusch, A., Koppenhoefer, D., Babicz, M., Lejman, M., Radhakrishnan, K. & Lugowska, A. (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. Academic Press Inc Elsevier Science. doi:10.1016/j.ymgme.2017.05.013.

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• [2]
  

  2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2780450

  Peng, J., Alam, S., Radhakrishnan, K., Mariappan, M., Rudolph, M.G., May, C., Dierks, T., von Figura, K. & Schmidt, B. (2015). Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction. FEBS Journal, 282(17), 3262-3274. Wiley Blackwell (Blackwell Publishing). doi:10.1111/febs.13347.

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• [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. Nature Publishing Group. doi:10.1038/ejhg.2012.291.

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