16 Publikationen

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  • [16]
    2023 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2969064 OA
    Schlotawa L, Tyka K, Kettwig M, Ahrens-Nicklas RC, Baud M, Berulava T, Brunetti-Pierri N, Gagne A, Herbst ZM, Maguire JA, Monfregula J, Pena T, Radhakrishnan K, Schroder S, Waxman EA, Ballabio A, Dierks T, Fischer A, French DL, Gelb MH, 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 RC (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 LA, Mowafy S, Herbst ZM, Zhou Z, Schlotawa L, Radhakrishnan K, Bentley B, Pham V, Yu E, Pillai NR, Orchard PJ, De Castro M, Vanderver A, Pasquali M, Gelb MH, Ahrens-Nicklas RC (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 EA, Fischer A, French DL, Gelb MH, 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. Molecular Genetics and Metabolism, 138. San Diego: Elsevier: 117-118.
    PUB | DOI | WoS
     
  • [12]
    2022 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2967883
    Sorrentino NC, 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 DJ, 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. Blood, 138. Washington: Amer Soc Hematology.
    PUB | DOI | WoS
     
  • [9]
    2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2943713 OA
    Schlotawa L, Adang LA, Radhakrishnan K, Ahrens-Nicklas RC (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 LA, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, Oliveira Silva T, Schwartz IVD, Gartner J, De Castro M, Costin C, Montgomery EF, Dierks T, Radhakrishnan K, Ahrens-Nicklas RC (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 OA
    Staretz-Chacham O, Schlotawa L, Wormser O, Golan-Tripto I, Birk OS, Ferreira CR, 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 FJ, 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. MOLECULAR GENETICS AND METABOLISM, 126. San Diego: ACADEMIC PRESS INC ELSEVIER SCIENCE: S131-S132.
    PUB | DOI | WoS
     
  • [5]
    2019 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2933914
    Silva TO, Souza CFM, Rocha JWB, Brusius-Facchin AC, Michellin-Tirelli K, Burin MG, Giugliani R, Radhakrishnan K, Schlotawa L, Dierks T, Schwartz IVD (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, 126. ACADEMIC PRESS INC ELSEVIER SCIENCE,: S135-S136.
    PUB | DOI | WoS
     
  • [4]
    2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2921018 OA
    Schlotawa L, Wachs M, Bernhard O, Mayer FJ, 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 MG, 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
     

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