16 Publikationen
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2023 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2969064
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiencyPUB | PDF | DOI | WoS | PubMed | Europe PMC
Schlotawa L, Tyka K, Kettwig M, Ahrens-Nicklas RC, Baud M, Berulava T, Brunetti-Pierri N, Gagne A, Herbst ZM, Maguire JA, Monfregula J, et al. (2023)
EMBO Molecular Medicine: e14837. -
2023 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2984919Differential Post-Translational Sulfatase Activation Correlates with Disease Severity in Multiple Sulfatase DeficiencyPUB | DOI | WoS
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, et al. (2023)
Annals of Neurology 94(S 30): S220-S221. -
2023 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2983995Biochemical signatures of disease severity in Multiple Sulfatase DeficiencyPUB | DOI | WoS | PubMed | Europe PMC
Adang LA, Mowafy S, Herbst ZM, Zhou Z, Schlotawa L, Radhakrishnan K, Bentley B, Pham V, Yu E, Pillai NR, Orchard PJ, et al. (2023)
Journal of Inherited Metabolic Disease . -
2023 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2982791Screening of approved drugs identifies 3rd generation retinoids as in vitro therapeutic agents in multiple sulfatase deficiencyPUB | DOI | WoS
Schlotawa L, Kettwig M, Ahrens-Nicklas R, Baud M, Brunetti-Pierri N, Gagne A, Schroeder S, Monfregula J, Pena T, Radhakrishnan K, Waxman EA, et al. (2023)
In: Program and Abstracts WORLDSymposiumTM 2023* 19th Annual Research Meeting & Scientific Sessions. Molecular Genetics and Metabolism, 138(2). San Diego: Elsevier: 117-118. -
2022 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2967883New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiencyPUB | DOI | WoS | PubMed | Europe PMC
Sorrentino NC, Presa M, Attanasio S, Cacace V, Sofia M, Zuberi A, Ryan J, Ray S, Petkovic I, Radhakrishnan K, Schlotawa L, et al. (2022)
Journal of Inherited Metabolic Disease. -
2022 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2963808Improved Gene Therapy for Metachromatic LeukodystrophyPUB | WoS
Tricoli L, Vanderver A, Adang L, Chappell M, Breda L, Tanaka N, Wenger D, Guerra A, Triebwasser M, Kurre P, Schlotawa L, et al. (2022)
Molecular Therapy 30(4): 415-416. -
2021 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2965537Improved Gene Therapy for Metachromatic LeukodystrophyPUB | DOI | WoS
Tricoli L, Vanderver A, Adang L, Chappel M, Breda L, Tanaka N, Triebwasser M, Wenger D, Jarocha DJ, Guerra A, Schlotawa L, et al. (2021)
In: 63rd ASH Annual Meeting Abstracts. Poster Abstracts. Blood, 138(Suppl. 1). Washington: Amer Soc Hematology. -
2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2943713
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational ModificationPUB | PDF | DOI | Download (ext.) | WoS | PubMed | Europe PMC
Schlotawa L, Adang LA, Radhakrishnan K, Ahrens-Nicklas RC (2020)
International journal of molecular sciences 21(10): 3448. -
2020 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2945204Natural history of multiple sulfatase deficiency: retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.PUB | DOI | WoS | PubMed | Europe PMC
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, et al. (2020)
Journal of inherited metabolic disease. -
2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2941491
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.PUB | PDF | DOI | WoS | PubMed | Europe PMC
Staretz-Chacham O, Schlotawa L, Wormser O, Golan-Tripto I, Birk OS, Ferreira CR, Dierks T, Radhakrishnan K (2020)
Molecular genetics & genomic medicine 8(9): e1167. -
2019 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2933913Protein disulfide isomerase is a possible target for disease modification in multiple sulfatase deficiencyPUB | DOI | WoS
Schlotawa L, Wachs M, Bernhard O, Mayer FJ, Dierks T, Schmidt B, Radhakrishnan K (2019)
In: MOLECULAR GENETICS AND METABOLISM. MOLECULAR GENETICS AND METABOLISM, 126(2). San Diego: ACADEMIC PRESS INC ELSEVIER SCIENCE: S131-S132. -
2019 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2933914Attenuated multiple sulfatase deficiency: Description of two Brazilian patients showing interesting clinical and genetic findingsPUB | DOI | WoS
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)
In: MOLECULAR GENETICS AND METABOLISM. MOLECULAR GENETICS AND METABOLISM, 126(2). ACADEMIC PRESS INC ELSEVIER SCIENCE,: S135-S136. -
2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2921018
Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide IsomerasePUB | PDF | DOI | WoS | PubMed | Europe PMC
Schlotawa L, Wachs M, Bernhard O, Mayer FJ, Dierks T, Schmidt B, Radhakrishnan K (2018)
Cell Reports 24(1): 27-37.e4. -
2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916520Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the diseasePUB | DOI | WoS | PubMed | Europe PMC
Jaszczuk I, Schlotawa L, Dierks T, Ohlenbusch A, Koppenhoefer D, Babicz M, Lejman M, Radhakrishnan K, Lugowska A (2017)
MOLECULAR GENETICS AND METABOLISM 121(3): 252-258. -
2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2780450Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reactionPUB | DOI | WoS | PubMed | Europe PMC
Peng J, Alam S, Radhakrishnan K, Mariappan M, Rudolph MG, May C, Dierks T, von Figura K, Schmidt B (2015)
FEBS Journal 282(17): 3262-3274. -
2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2625696Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiencyPUB | DOI | WoS | PubMed | Europe PMC
Schlotawa L, Radhakrishnan K, Baumgartner M, Schmid R, Schmidt B, Dierks T, Gaertner J (2013)
European Journal Of Human Genetics 21(9): 1020-1023.