PUB - Publikationen an der Universität Bielefeld

Alle markieren

• [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

  PUB | PDF | DOI | WoS | PubMed | Europe PMC
   
• [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.

  PUB | DOI | WoS
   
• [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

  PUB | DOI | WoS | PubMed | Europe PMC
   
• [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. In: Program and Abstracts WORLDSymposiumTM 2023* 19th Annual Research Meeting & Scientific Sessions. San Diego: Elsevier. (Molecular Genetics and Metabolism, 138). S. 117-118.

  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

  PUB | DOI | WoS | PubMed | Europe PMC
   
• [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.

  PUB | WoS
   
• [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. In: 63rd ASH Annual Meeting Abstracts. Poster Abstracts. Washington: Amer Soc Hematology. (Blood, 138).

  PUB | DOI | WoS
   
• [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.

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

  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

  PUB | PDF | DOI | WoS | PubMed | Europe PMC
   
• [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. In: MOLECULAR GENETICS AND METABOLISM. San Diego: ACADEMIC PRESS INC ELSEVIER SCIENCE. (MOLECULAR GENETICS AND METABOLISM, 126). S. S131-S132.

  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. In: MOLECULAR GENETICS AND METABOLISM. ACADEMIC PRESS INC ELSEVIER SCIENCE,. (MOLECULAR GENETICS AND METABOLISM, 126). S. S135-S136.

  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.

  PUB | PDF | DOI | WoS | PubMed | Europe PMC
   
• [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.

  PUB | DOI | WoS | PubMed | Europe PMC
   
• [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.

  PUB | DOI | WoS | PubMed | Europe PMC
   
• [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.

  PUB | DOI | WoS | PubMed | Europe PMC