PUB - Publikationen an der Universität Bielefeld

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• [16]
  

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

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

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

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

  Adang L, Herbst Z (A) M, Zhou Z, et al. Differential Post-Translational Sulfatase Activation Correlates with Disease Severity in Multiple Sulfatase Deficiency. Annals of Neurology . 2023;94(S 30):S220-S221.

  PUB | DOI | WoS
   
• [14]
  

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

  Adang LA, Mowafy S, Herbst ZM, 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

  Schlotawa L, Kettwig M, Ahrens-Nicklas R, et al. 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. Vol 138. San Diego: Elsevier; 2023: 117-118.

  PUB | DOI | WoS
   
• [12]
  

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

  Sorrentino NC, Presa M, Attanasio S, et al. New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency. Journal of Inherited Metabolic Disease. 2022.

  PUB | DOI | WoS | PubMed | Europe PMC
   
• [11]
  

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

  Tricoli L, Vanderver A, Adang L, et al. Improved Gene Therapy for Metachromatic Leukodystrophy. Molecular Therapy . 2022;30(4):415-416.

  PUB | WoS
   
• [10]
  

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

  Tricoli L, Vanderver A, Adang L, et al. Improved Gene Therapy for Metachromatic Leukodystrophy. In: 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

  Schlotawa L, Adang LA, Radhakrishnan K, Ahrens-Nicklas RC. Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification. International journal of molecular sciences. 2020;21(10):3448.

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• [8]
  

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

  Adang LA, Schlotawa L, Groeschel S, 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

  Staretz-Chacham O, Schlotawa L, Wormser O, 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. 2020;8(9): e1167.

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• [6]
  

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

  Schlotawa L, Wachs M, Bernhard O, et al. Protein disulfide isomerase is a possible target for disease modification in multiple sulfatase deficiency. In: MOLECULAR GENETICS AND METABOLISM. MOLECULAR GENETICS AND METABOLISM. Vol 126. San Diego: ACADEMIC PRESS INC ELSEVIER SCIENCE; 2019: S131-S132.

  PUB | DOI | WoS
   
• [5]
  

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

  Silva TO, Souza CFM, Rocha JWB, et al. Attenuated multiple sulfatase deficiency: Description of two Brazilian patients showing interesting clinical and genetic findings. In: MOLECULAR GENETICS AND METABOLISM. MOLECULAR GENETICS AND METABOLISM. Vol 126. ACADEMIC PRESS INC ELSEVIER SCIENCE,; 2019: S135-S136.

  PUB | DOI | WoS
   
• [4]
  

  2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2921018

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

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• [3]
  

  2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916520

  Jaszczuk I, Schlotawa L, Dierks T, 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. 2017;121(3):252-258.

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

  2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2780450

  Peng J, Alam S, Radhakrishnan K, et al. Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction. FEBS Journal. 2015;282(17):3262-3274.

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• [1]
  

  2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2625696

  Schlotawa L, Radhakrishnan K, Baumgartner M, 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. 2013;21(9):1020-1023.

  PUB | DOI | WoS | PubMed | Europe PMC