Author Schlotawa, Lars

1 to 20 of 31 Items
  • 2023 | Journal Article | 
    ​ ​Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency​
    Schlotawa, L.; Tyka, K.; Kettwig, M.; Ahrens‐Nicklas, R. C.; Baud, M.; Berulava, T. & Brunetti‐Pierri, N. et al.​ (2023) 
    EMBO Molecular Medicine, 15(3) art. e14837​.​ DOI: https://doi.org/10.15252/emmm.202114837 
    ​Details  DOI  PMID  PMC 
  • 2023 | Journal Article | 
    ​ ​Multiple Sulfatase Deficiency from an Ophthalmologist’s Perspective—Case Report and Literature Review​
    Naxer, S.; Elabbasy, M.; Herholz, L.; Breitling, V.; Finglas, A.; Schlotawa, L. & Schittkowski, M. P. et al.​ (2023) 
    Children, 10(3) pp. 595​.​ DOI: https://doi.org/10.3390/children10030595 
    ​Details  DOI 
  • 2023 | Journal Article
    ​ ​Biochemical signatures of disease severity in Multiple Sulfatase Deficiency​
    Adang, L. A.; Mowafy, S.; Herbst, Z. M.; Zhou, Z.; Schlotawa, L.; Radhakrishnan, K. & Bentley, B. et al.​ (2023) 
    Journal of Inherited Metabolic Disease, art. jimd.12688​.​ DOI: https://doi.org/10.1002/jimd.12688 
    ​Details  DOI 
  • 2022 | Journal Article
    ​ ​Unexpected Phenotype Reversion and Survival in a Zebrafish Model of Multiple Sulfatase Deficiency​
    Fleming, A.; Xuan, L. Z.; Sanchez-Elexpuru, G.; Williams, S. V.; Windell, D.; Gelb, M. H. & Herbst, Z. M. et al.​ (2022) 
    Frontiers in Cell and Developmental Biology, 10 art. 843079​.​ DOI: https://doi.org/10.3389/fcell.2022.843079 
    ​Details  DOI 
  • 2022 | Journal Article
    ​ ​An inducible expression system for the manipulation of autophagic flux in vivo​
    Schlotawa, L.; Lopez, A.; Sanchez-Elexpuru, G.; Tyrkalska, S. D.; Rubinsztein, D. C. & Fleming, A.​ (2022) 
    Autophagy, pp. 1​-14​.​ DOI: https://doi.org/10.1080/15548627.2022.2135824 
    ​Details  DOI 
  • 2021 | Conference Abstract
    ​ ​Development of a Severity Scale for Multiple Sulfatase Deficiency​
    Isaacs, D.; Schlotawa, L.; Jawad, A.; Ahrens-Nicklas, R. & Adang, L. A.​ (2021)
    Annals of Neurology, 90(Suppl. 27) p. S190. ​146th Annual Meeting American Neurological Association​, virtuell.
    ​Details  WoS 
  • 2020 | Journal Article
    ​ ​Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease​
    Adang, L. A.; Schlotawa, L.; Groeschel, S.; Kehrer, C.; Harzer, K.; Staretz‐Chacham, O. & Silva, T. O. et al.​ (2020) 
    Journal of Inherited Metabolic Disease, 43(6) pp. 1298​-1309​.​ DOI: https://doi.org/10.1002/jimd.12298 
    ​Details  DOI 
  • 2020 | Journal Article
    ​ ​A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency​
    Staretz‐Chacham, O.; Schlotawa, L.; Wormser, O.; Golan‐Tripto, I.; Birk, O. S.; Ferreira, C. R. & Dierks, T. et al.​ (2020) 
    Molecular Genetics & Genomic Medicine, 8(9).​ DOI: https://doi.org/10.1002/mgg3.1167 
    ​Details  DOI 
  • 2020 | Journal Article | 
    ​ ​A systematic review and meta‐analysis of published cases reveals the natural disease history in multiple sulfatase deficiency​
    Schlotawa, L.; Preiskorn, J.; Ahrens‐Nicklas, R.; Schiller, S. ; Adang, L. A.; Gärtner, J.   & Friede, T. ​ (2020) 
    Journal of Inherited Metabolic Disease, 43(6) pp. 1288​-1297​.​ DOI: https://doi.org/10.1002/jimd.12282 
    ​Details  DOI 
  • 2020 | Journal Article | Research Paper | 
    ​ ​Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification​
    Schlotawa, L.; Adang, L. A.; Radhakrishnan, K. & Ahrens-Nicklas, R. C.​ (2020) 
    International Journal of Molecular Sciences, 21(10) pp. 3448​.​ DOI: https://doi.org/10.3390/ijms21103448 
    ​Details  DOI 
  • 2020 | Journal Article | 
    ​ ​Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia​
    Weber, T.; Schlotawa, L.; Dosch, R.; Hamilton, N.; Kaiser, J.; Schiller, S.   & Wenske, B. et al.​ (2020) 
    Biology Open, 9(5) pp. bio049239​.​ DOI: https://doi.org/10.1242/bio.049239 
    ​Details  DOI 
  • 2020 | Journal Article
    ​ ​Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation ( MPI‐CDG ) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia​
    Mühlhausen, C.; Henneke, L.; Schlotawa, L.; Behme, D.; Grüneberg, M.; Gärtner, J. & Marquardt, T.​ (2020) 
    JIMD Reports, 55(1) pp. 38​-43​.​ DOI: https://doi.org/10.1002/jmd2.12149 
    ​Details  DOI 
  • 2019 | Journal Article
    ​ ​A natural history study of multiple sulfatase deficiency​
    Ahrens-Nicklas, R.; Adang, L.; Sherbini, O.; Goodspeed, K.; Hughes, S.; Finglas, A. & Olsen, A. et al.​ (2019) 
    Molecular Genetics and Metabolism, 126(2) pp. S21​-S22​.​ DOI: https://doi.org/10.1016/j.ymgme.2018.12.030 
    ​Details  DOI 
  • 2019 | Journal Article
    ​ ​Improved description of clinical features of multiple sulfatase deficiency: A meta-analysis of published cases​
    Schlotawa, L.; Preiskorn, J.; Ahrens-Nicklas, R.; Adang, L. A.; Gärtner, J.   & Friede, T. ​ (2019) 
    Molecular Genetics and Metabolism, 126(2) pp. S131​.​ DOI: https://doi.org/10.1016/j.ymgme.2018.12.337 
    ​Details  DOI 
  • 2019 | Journal Article
    ​ ​Attenuated multiple sulfatase deficiency: Description of two Brazilian patients showing interesting clinical and genetic findings​
    Silva, T. O.; Souza, C. F.; Rocha, J. W.; Brusius-Facchin, A. C.; Michellin-Tirelli, K.; Burin, M. G. & Giugliani, R. et al.​ (2019) 
    Molecular Genetics and Metabolism, 126(2) pp. S135​-S136​.​ DOI: https://doi.org/10.1016/j.ymgme.2018.12.349 
    ​Details  DOI 
  • 2019 | Journal Article
    ​ ​Protein disulfide isomerase is a possible target for disease modification in multiple sulfatase deficiency​
    Schlotawa, L.; Wachs, M.; Bernhard, O. ; Mayer, F. J.; Dierks, T.; Schmidt, B.   & Radhakrishnan, K.​ (2019) 
    Molecular Genetics and Metabolism, 126(2) pp. S131​-S132​.​ DOI: https://doi.org/10.1016/j.ymgme.2018.12.338 
    ​Details  DOI 
  • 2019 | Journal Article | 
    ​ ​Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient​
    Schlotawa, L.; Dierks, T.; Christoph, S.; Cloppenburg, E.; Ohlenbusch, A.; Korenke, G. C. & Gärtner, J. ​ (2019) 
    JIMD Reports, 49(1) pp. 48​-52​.​ DOI: https://doi.org/10.1002/jmd2.12074 
    ​Details  DOI 
  • 2018 | Journal Article
    ​ ​Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase​
    Schlotawa, L.; Wachs, M.; Bernhard, O. ; Mayer, F. J.; Dierks, T.; Schmidt, B.   & Radhakrishnan, K.​ (2018) 
    Cell Reports, 24(1) pp. 27​-37.e4​.​ DOI: https://doi.org/10.1016/j.celrep.2018.06.016 
    ​Details  DOI 
  • 2018 | Journal Article
    ​ ​Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement​
    Ahrens-Nicklas, R.; Schlotawa, L.; Ballabio, A.; Brunetti-Pierri, N.; De Castro, M.; Dierks, T. & Eichler, F. et al.​ (2018) 
    Molecular Genetics and Metabolism, 123(3) pp. 337​-346​.​ DOI: https://doi.org/10.1016/j.ymgme.2018.01.005 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease​
    Jaszczuk, I.; Schlotawa, L.; Dierks, T.; Ohlenbusch, A.; Koppenhöfer, D.; Babicz, M. & Lejman, M. et al.​ (2017) 
    Molecular Genetics and Metabolism, 121(3) pp. 252​-258​.​ DOI: https://doi.org/10.1016/j.ymgme.2017.05.013 
    ​Details  DOI 

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Göttingen All

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