PUB - Publikationen an der Universität Bielefeld

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• [16]
  

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

  Schlotawa, L., et al., 2023. Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency. EMBO Molecular Medicine, : e14837.

  PUB | PDF | DOI | WoS | PubMed | Europe PMC
   
• [15]
  

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

  Adang, L., et al., 2023. Differential Post-Translational Sulfatase Activation Correlates with Disease Severity in Multiple Sulfatase Deficiency. Annals of Neurology , 94(S 30), p S220-S221.

  PUB | DOI | WoS
   
• [14]
  

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

  Adang, L.A., et al., 2023. Biochemical signatures of disease severity in Multiple Sulfatase Deficiency. Journal of Inherited Metabolic Disease .

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• [13]
  

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

  Schlotawa, L., et al., 2023. Screening of approved drugs identifies 3rd generation retinoids as in vitro therapeutic agents in multiple sulfatase deficiency. In Program and Abstracts WORLDSymposiumTM 2023* 19th Annual Research Meeting & Scientific Sessions. Molecular Genetics and Metabolism. no.138 San Diego: Elsevier, pp. 117-118.

  PUB | DOI | WoS
   
• [12]
  

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

  Sorrentino, N.C., et al., 2022. New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency. Journal of Inherited Metabolic Disease.

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• [11]
  

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

  Tricoli, L., et al., 2022. Improved Gene Therapy for Metachromatic Leukodystrophy. Molecular Therapy , 30(4), p 415-416.

  PUB | WoS
   
• [10]
  

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

  Tricoli, L., et al., 2021. Improved Gene Therapy for Metachromatic Leukodystrophy. In 63rd ASH Annual Meeting Abstracts. Poster Abstracts. Blood. no.138 Washington: Amer Soc Hematology.

  PUB | DOI | WoS
   
• [9]
  

  2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2943713

  Schlotawa, L., et al., 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), p 3448.

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

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

  Adang, L.A., 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.

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• [7]
  

  2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2941491

  Staretz-Chacham, O., 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.

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• [6]
  

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

  Schlotawa, L., et al., 2019. Protein disulfide isomerase is a possible target for disease modification in multiple sulfatase deficiency. In MOLECULAR GENETICS AND METABOLISM. MOLECULAR GENETICS AND METABOLISM. no.126 San Diego: ACADEMIC PRESS INC ELSEVIER SCIENCE, pp. S131-S132.

  PUB | DOI | WoS
   
• [5]
  

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

  Silva, T.O., et al., 2019. Attenuated multiple sulfatase deficiency: Description of two Brazilian patients showing interesting clinical and genetic findings. In MOLECULAR GENETICS AND METABOLISM. MOLECULAR GENETICS AND METABOLISM. no.126 ACADEMIC PRESS INC ELSEVIER SCIENCE,, pp. S135-S136.

  PUB | DOI | WoS
   
• [4]
  

  2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2921018

  Schlotawa, L., et al., 2018. Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase. Cell Reports, 24(1), p 27-37.e4.

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• [3]
  

  2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916520

  Jaszczuk, I., 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), p 252-258.

  PUB | DOI | WoS | PubMed | Europe PMC
   
• [2]
  

  2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2780450

  Peng, J., et al., 2015. Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction. FEBS Journal, 282(17), p 3262-3274.

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

  2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2625696

  Schlotawa, L., et al., 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), p 1020-1023.

  PUB | DOI | WoS | PubMed | Europe PMC