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• [16]
  

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

  L. Schlotawa, 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, et al., “Differential Post-Translational Sulfatase Activation Correlates with Disease Severity in Multiple Sulfatase Deficiency”, Annals of Neurology , vol. 94, 2023, pp. S220-S221.

  PUB | DOI | WoS
   
• [14]
  

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

  L.A. Adang, 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, et al., “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, vol. 138, San Diego: Elsevier, 2023, pp.117-118.

  PUB | DOI | WoS
   
• [12]
  

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

  N.C. Sorrentino, 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, et al., “Improved Gene Therapy for Metachromatic Leukodystrophy”, Molecular Therapy , vol. 30, 2022, pp. 415-416.

  PUB | WoS
   
• [10]
  

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

  L. Tricoli, et al., “Improved Gene Therapy for Metachromatic Leukodystrophy”, 63rd ASH Annual Meeting Abstracts. Poster Abstracts, Blood, vol. 138, Washington: Amer Soc Hematology, 2021.

  PUB | DOI | WoS
   
• [9]
  

  2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2943713

  L. Schlotawa, et al., “Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification”, International journal of molecular sciences, vol. 21, 2020, pp. 3448.

  PUB | PDF | DOI | Download (ext.) | WoS | PubMed | Europe PMC
   
• [8]
  

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

  L.A. Adang, 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, et al., “A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.”, Molecular genetics & genomic medicine, vol. 8, 2020, : e1167.

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• [6]
  

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

  L. Schlotawa, et al., “Protein disulfide isomerase is a possible target for disease modification in multiple sulfatase deficiency”, MOLECULAR GENETICS AND METABOLISM, MOLECULAR GENETICS AND METABOLISM, vol. 126, San Diego: ACADEMIC PRESS INC ELSEVIER SCIENCE, 2019, pp.S131-S132.

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• [5]
  

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

  T.O. Silva, et al., “Attenuated multiple sulfatase deficiency: Description of two Brazilian patients showing interesting clinical and genetic findings”, MOLECULAR GENETICS AND METABOLISM, MOLECULAR GENETICS AND METABOLISM, vol. 126, ACADEMIC PRESS INC ELSEVIER SCIENCE, 2019, pp.S135-S136.

  PUB | DOI | WoS
   
• [4]
  

  2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2921018

  L. Schlotawa, et al., “Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase”, Cell Reports, vol. 24, 2018, pp. 27-37.e4.

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• [3]
  

  2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916520

  I. Jaszczuk, et al., “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, vol. 121, 2017, pp. 252-258.

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• [2]
  

  2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2780450

  J. Peng, et al., “Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction”, FEBS Journal, vol. 282, 2015, pp. 3262-3274.

  PUB | DOI | WoS | PubMed | Europe PMC
   
• [1]
  

  2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2625696

  L. Schlotawa, et al., “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, vol. 21, 2013, pp. 1020-1023.

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