16 Publikationen
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2023 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2969064Schlotawa 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)PUB | PDF | DOI | WoS | PubMed | Europe PMC
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.
EMBO Molecular Medicine: e14837. -
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 RC (2023)PUB | DOI | WoS
Differential Post-Translational Sulfatase Activation Correlates with Disease Severity in Multiple Sulfatase Deficiency.
Annals of Neurology 94(S 30): S220-S221. -
2023 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2983995Adang 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)PUB | DOI | WoS | PubMed | Europe PMC
Biochemical signatures of disease severity in Multiple Sulfatase Deficiency.
Journal of Inherited Metabolic Disease . -
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 EA, Fischer A, French DL, Gelb MH, Gaertner J (2023)PUB | DOI | WoS
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. -
2022 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2967883Sorrentino 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)PUB | DOI | WoS | PubMed | Europe PMC
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.
Journal of Inherited Metabolic Disease. -
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 (2022)PUB | WoS
Improved Gene Therapy for Metachromatic Leukodystrophy.
Molecular Therapy 30(4): 415-416. -
2021 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2965537Tricoli 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)PUB | DOI | WoS
Improved Gene Therapy for Metachromatic Leukodystrophy.
In: 63rd ASH Annual Meeting Abstracts. Poster Abstracts. Blood, 138. Washington: Amer Soc Hematology. -
2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2943713Schlotawa L, Adang LA, Radhakrishnan K, Ahrens-Nicklas RC (2020)PUB | PDF | DOI | Download (ext.) | WoS | PubMed | Europe PMC
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. -
2020 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2945204Adang 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)PUB | DOI | WoS | PubMed | Europe PMC
Natural history of multiple sulfatase deficiency: retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Journal of inherited metabolic disease. -
2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2941491Staretz-Chacham O, Schlotawa L, Wormser O, Golan-Tripto I, Birk OS, Ferreira CR, Dierks T, Radhakrishnan K (2020)PUB | PDF | DOI | WoS | PubMed | Europe PMC
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. -
2019 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2933913Schlotawa L, Wachs M, Bernhard O, Mayer FJ, Dierks T, Schmidt B, Radhakrishnan K (2019)PUB | DOI | WoS
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. -
2019 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2933914Silva TO, Souza CFM, Rocha JWB, Brusius-Facchin AC, Michellin-Tirelli K, Burin MG, Giugliani R, Radhakrishnan K, Schlotawa L, Dierks T, Schwartz IVD (2019)PUB | DOI | WoS
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. -
2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2921018Schlotawa L, Wachs M, Bernhard O, Mayer FJ, Dierks T, Schmidt B, Radhakrishnan K (2018)PUB | PDF | DOI | WoS | PubMed | Europe PMC
Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase.
Cell Reports 24(1): 27-37.e4. -
2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916520Jaszczuk I, Schlotawa L, Dierks T, Ohlenbusch A, Koppenhoefer D, Babicz M, Lejman M, Radhakrishnan K, Lugowska A (2017)PUB | DOI | WoS | PubMed | Europe PMC
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. -
2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2780450Peng J, Alam S, Radhakrishnan K, Mariappan M, Rudolph MG, May C, Dierks T, von Figura K, Schmidt B (2015)PUB | DOI | WoS | PubMed | Europe PMC
Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction.
FEBS Journal 282(17): 3262-3274. -
2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2625696Schlotawa L, Radhakrishnan K, Baumgartner M, Schmid R, Schmidt B, Dierks T, Gaertner J (2013)PUB | DOI | WoS | PubMed | Europe PMC
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.