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• [16]
  

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

  L. Schlotawa, K. Tyka, M. Kettwig, R. C. Ahrens-Nicklas, M. Baud, T. Berulava, N. Brunetti-Pierri, A. Gagne, Z. M. Herbst, J. A. Maguire, et al., “Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency”, EMBO Molecular Medicine, 2023, : e14837.

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• [15]
  

  2023 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2984919

  L. Adang, Z. (A. ) M. Herbst, Z. Zhou, L. Schlotawa, K. Radhakrishnan, S. Mowafi, B. Bentley, N. Pillai, P. Orchard, C. Costin, et al., “Differential Post-Translational Sulfatase Activation Correlates with Disease Severity in Multiple Sulfatase Deficiency”, Annals of Neurology , 2023, 94, S220-S221.

  PUB | DOI | WoS
   
• [14]
  

  2023 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2983995

  L. A. Adang, S. Mowafy, Z. M. Herbst, Z. Zhou, L. Schlotawa, K. Radhakrishnan, B. Bentley, V. Pham, E. Yu, N. R. Pillai, et al., “Biochemical signatures of disease severity in Multiple Sulfatase Deficiency”, Journal of Inherited Metabolic Disease , 2023.

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• [13]
  

  2023 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2982791

  L. Schlotawa, M. Kettwig, R. Ahrens-Nicklas, M. Baud, N. Brunetti-Pierri, A. Gagne, S. Schroeder, J. Monfregula, T. Pena, K. Radhakrishnan, et al., in Program and Abstracts WORLDSymposiumTM 2023* 19th Annual Research Meeting & Scientific Sessions, Elsevier, San Diego, 2023, p. 117-118.

  PUB | DOI | WoS
   
• [12]
  

  2022 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2967883

  N. C. Sorrentino, M. Presa, S. Attanasio, V. Cacace, M. Sofia, A. Zuberi, J. Ryan, S. Ray, I. Petkovic, K. Radhakrishnan, et al., “New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency”, Journal of Inherited Metabolic Disease, 2022.

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• [11]
  

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

  L. Tricoli, A. Vanderver, L. Adang, M. Chappell, L. Breda, N. Tanaka, D. Wenger, A. Guerra, M. Triebwasser, P. Kurre, et al., “Improved Gene Therapy for Metachromatic Leukodystrophy”, Molecular Therapy , 2022, 30, 415-416.

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• [10]
  

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

  L. Tricoli, A. Vanderver, L. Adang, M. Chappel, L. Breda, N. Tanaka, M. Triebwasser, D. Wenger, D. J. Jarocha, A. Guerra, et al., in 63rd ASH Annual Meeting Abstracts. Poster Abstracts, Amer Soc Hematology, Washington, 2021.

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• [9]
  

  2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2943713

  L. Schlotawa, L. A. Adang, K. Radhakrishnan, and R. C. Ahrens-Nicklas, “Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification”, International journal of molecular sciences, 2020, 21, 3448.

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• [8]
  

  2020 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2945204

  L. A. Adang, L. Schlotawa, S. Groeschel, C. Kehrer, K. Harzer, O. Staretz-Chacham, T. Oliveira Silva, I. V. D. Schwartz, J. Gartner, M. De Castro, et al., “Natural history of multiple sulfatase deficiency: retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.”, Journal of inherited metabolic disease, 2020.

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• [7]
  

  2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2941491

  O. Staretz-Chacham, L. Schlotawa, O. Wormser, I. Golan-Tripto, O. S. Birk, C. R. Ferreira, T. Dierks, and K. Radhakrishnan, “A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.”, Molecular genetics & genomic medicine, 2020, 8, : e1167.

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• [6]
  

  2019 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2933913

  L. Schlotawa, M. Wachs, O. Bernhard, F. J. Mayer, T. Dierks, B. Schmidt, and K. Radhakrishnan, in MOLECULAR GENETICS AND METABOLISM, Academic Press Inc Elsevier Science, San Diego, 2019, p. S131-S132.

  PUB | DOI | WoS
   
• [5]
  

  2019 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2933914

  T. O. Silva, C. F. M. Souza, J. W. B. Rocha, A. C. Brusius-Facchin, K. Michellin-Tirelli, M. G. Burin, R. Giugliani, K. Radhakrishnan, L. Schlotawa, T. Dierks, et al., in MOLECULAR GENETICS AND METABOLISM, Academic Press Inc Elsevier Science,, 2019, p. S135-S136.

  PUB | DOI | WoS
   
• [4]
  

  2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2921018

  L. Schlotawa, M. Wachs, O. Bernhard, F. J. Mayer, T. Dierks, B. Schmidt, and K. Radhakrishnan, “Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase”, Cell Reports, 2018, 24, 27-37.e4.

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• [3]
  

  2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916520

  I. Jaszczuk, L. Schlotawa, T. Dierks, A. Ohlenbusch, D. Koppenhoefer, M. Babicz, M. Lejman, K. Radhakrishnan, and A. Lugowska, “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, 2017, 121, 252-258.

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• [2]
  

  2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2780450

  J. Peng, S. Alam, K. Radhakrishnan, M. Mariappan, M. G. Rudolph, C. May, T. Dierks, K. von Figura, and B. Schmidt, “Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction”, FEBS Journal, 2015, 282, 3262-3274.

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• [1]
  

  2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2625696

  L. Schlotawa, K. Radhakrishnan, M. Baumgartner, R. Schmid, B. Schmidt, T. Dierks, and J. Gaertner, “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, 2013, 21, 1020-1023.

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