16 Publikationen
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2023 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2969064Schlotawa, 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.: Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency. EMBO Molecular Medicine. : e14837 (2023).PUB | PDF | DOI | WoS | PubMed | Europe PMC
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2023 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2984919Adang, 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.: Differential Post-Translational Sulfatase Activation Correlates with Disease Severity in Multiple Sulfatase Deficiency. Annals of Neurology . 94, S220-S221 (2023).PUB | DOI | WoS
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2023 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2983995Adang, 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.: Biochemical signatures of disease severity in Multiple Sulfatase Deficiency. Journal of Inherited Metabolic Disease . (2023).PUB | DOI | WoS | PubMed | Europe PMC
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2023 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2982791Schlotawa, 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.: Screening of approved drugs identifies 3rd generation retinoids as in vitro therapeutic agents in multiple sulfatase deficiency. Program and Abstracts WORLDSymposiumTM 2023* 19th Annual Research Meeting & Scientific Sessions. Molecular Genetics and Metabolism. 138, p. 117-118. Elsevier, San Diego (2023).PUB | DOI | WoS
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2022 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2967883Sorrentino, 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.: 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
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2022 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2963808Tricoli, 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.: Improved Gene Therapy for Metachromatic Leukodystrophy. Molecular Therapy . 30, 415-416 (2022).PUB | WoS
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2021 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2965537Tricoli, 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.: Improved Gene Therapy for Metachromatic Leukodystrophy. 63rd ASH Annual Meeting Abstracts. Poster Abstracts. Blood. 138, Amer Soc Hematology, Washington (2021).PUB | DOI | WoS
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2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2943713Schlotawa, L., Adang, L.A., Radhakrishnan, K., Ahrens-Nicklas, R.C.: Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification. International journal of molecular sciences. 21, 3448 (2020).PUB | PDF | DOI | Download (ext.) | WoS | PubMed | Europe PMC
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2020 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2945204Adang, 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.: Natural history of multiple sulfatase deficiency: retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease. Journal of inherited metabolic disease. (2020).PUB | DOI | WoS | PubMed | Europe PMC
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2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2941491Staretz-Chacham, O., Schlotawa, L., Wormser, O., Golan-Tripto, I., Birk, O.S., Ferreira, C.R., Dierks, T., Radhakrishnan, K.: 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, : e1167 (2020).PUB | PDF | DOI | WoS | PubMed | Europe PMC
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2019 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2933913Schlotawa, L., Wachs, M., Bernhard, O., Mayer, F.J., Dierks, T., Schmidt, B., Radhakrishnan, K.: Protein disulfide isomerase is a possible target for disease modification in multiple sulfatase deficiency. MOLECULAR GENETICS AND METABOLISM. MOLECULAR GENETICS AND METABOLISM. 126, p. S131-S132. ACADEMIC PRESS INC ELSEVIER SCIENCE, San Diego (2019).PUB | DOI | WoS
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2019 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2933914Silva, 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.: Attenuated multiple sulfatase deficiency: Description of two Brazilian patients showing interesting clinical and genetic findings. MOLECULAR GENETICS AND METABOLISM. MOLECULAR GENETICS AND METABOLISM. 126, p. S135-S136. ACADEMIC PRESS INC ELSEVIER SCIENCE, (2019).PUB | DOI | WoS
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2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2921018Schlotawa, L., Wachs, M., Bernhard, O., Mayer, F.J., Dierks, T., Schmidt, B., Radhakrishnan, K.: Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase. Cell Reports. 24, 27-37.e4 (2018).PUB | PDF | DOI | WoS | PubMed | Europe PMC
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2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916520Jaszczuk, I., Schlotawa, L., Dierks, T., Ohlenbusch, A., Koppenhoefer, D., Babicz, M., Lejman, M., Radhakrishnan, K., Lugowska, A.: 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, 252-258 (2017).PUB | DOI | WoS | PubMed | Europe PMC
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2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2780450Peng, J., Alam, S., Radhakrishnan, K., Mariappan, M., Rudolph, M.G., May, C., Dierks, T., von Figura, K., Schmidt, B.: Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction. FEBS Journal. 282, 3262-3274 (2015).PUB | DOI | WoS | PubMed | Europe PMC
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2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2625696Schlotawa, L., Radhakrishnan, K., Baumgartner, M., Schmid, R., Schmidt, B., Dierks, T., Gaertner, J.: 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, 1020-1023 (2013).PUB | DOI | WoS | PubMed | Europe PMC