Author Radhakrishnan, Karthikeyan
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2006 | Conference Abstract
N-terminus of mu 1 is essential for AP-1 membrane recycling
Radhakrishnan, K.; Medigeshi, G. R.; Krikunova, M.; Wenzel, D.; Klingauf, J. & Schu, P. V. (2006)
European Journal of Cell Biology, 85 29th Annual Meeting of the German Society for Cell Biology, Braunschweig, GERMANY.
Jena: Elsevier Gmbh, Urban & Fischer Verlag.
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2008 | Journal Article
AP-1 membrane-cytoplasm recycling regulated by mu 1A-adaptin
Medigeshi, G. R.; Krikunova, M.; Radhakrishnan, K.; Wenzel, D.; Klingauf, J. & Schu, P. (2008)
Traffic, 9(1) pp. 121-132. DOI: https://doi.org/10.1111/j.1600-0854.2007.00672.x
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2008 | Journal Article
ERp44 mediates a thiol-independent retention of formylglycine-generating enzyme in the endoplasmic reticulum
Mariappan, M.; Radhakrishnan, K.; Dierks, T.; Schmidt, B. & von Figura, K. (2008)
Journal of Biological Chemistry, 283(10) pp. 6375-6383. DOI: https://doi.org/10.1074/jbc.M709171200
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2008 | Journal Article
The non-catalytic N-terminal extension of formylglycine-generating enzyme is required for its biological activity and retention in the endoplasmic reticulum
Mariappan, M.; Gande, S. L.; Radhakrishnan, K.; Schmidt, B.; Dierks, T. & von Figura, K. (2008)
Journal of Biological Chemistry, 283(17) pp. 11556-11564. DOI: https://doi.org/10.1074/jbc.M707858200
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2009 | Review
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins
Dierks, T.; Schlotawa, L.; Frese, M.-A.; Radhakrishnan, K.; von Figura, K. & Schmidt, B. (2009)
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 1793(4) pp. 710-725.
Elsevier Science Bv. DOI: https://doi.org/10.1016/j.bbamcr.2008.11.015
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2010 | Conference Abstract
FUNCTIONAL CHARACTERIZATION OF TWO NOVEL SUMF1 MUTATIONS LEADING TO A MILD PHENOTYPE IN MULTIPLE SULFATASE DEFICIENCY
Schlotawa, L.; Radhakrishnan, K.; Schmid, R.; Schmidt, B. ; Dierks, T.; Gaertner, J. & Baumgartner, M. (2010)
Journal of Inherited Metabolic Disease, 33
Dordrecht: Springer.
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2011 | Journal Article | Research Paper |
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency
Schlotawa, L.; Ennemann, E. C.; Radhakrishnan, K.; Schmidt, B. ; Chakrapani, A.; Christen, H.-J. & Moser, H. et al. (2011)
European Journal of Human Genetics, 19(3) pp. 253-261. DOI: https://doi.org/10.1038/ejhg.2010.219
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2012 | Conference Abstract
Calcium and redox dependent conformational change is necessary for the catalytic activity of Formylglycine-Generating Enzyme (FGE): Insights into the mechanism of formylglycine generation
Alam, M. S.; Radhakrishnan, K. & Schmidt, B. (2012)
Protein Science, 21 26th Annual Symposium of the Protein-Society, San Diego, CA.
Hoboken: Wiley-blackwell.
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2013 | Journal Article
Trans-Golgi network morphology and sorting is regulated by prolyl-oligopeptidase-like protein PREPL and the AP-1 complex subunit mu 1A
Radhakrishnan, K.; Baltes, J.; Creemers, J. W. M. & Schu, P. (2013)
Journal of Cell Science, 126(5) pp. 1155-1163. DOI: https://doi.org/10.1242/jcs.116079
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2013 | Journal Article | Research Paper |
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency
Schlotawa, L.; Radhakrishnan, K.; Baumgartner, M.; Schmid, R.; Schmidt, B. ; Dierks, T. & Gärtner, J. (2013)
European Journal of Human Genetics, 21(9) pp. 1020-1023. DOI: https://doi.org/10.1038/ejhg.2012.291
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2013 | Journal Article
Proprotein Convertases Process and Thereby Inactivate Formylglycine-generating Enzyme
Ennemann, E. C.; Radhakrishnan, K.; Mariappan, M.; Wachs, M.; Pringle, T. H.; Schmidt, B. & Dierks, T. (2013)
Journal of Biological Chemistry, 288(8) pp. 5828-5839. DOI: https://doi.org/10.1074/jbc.M112.405159
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2014 | Journal Article
sigma 1B adaptin regulates adipogenesis by mediating the sorting of sortilin in adipose tissue
Baltes, J.; Larsen, J. V.; Radhakrishnan, K.; Geumann, C.; Kratzke, M.; Petersen, C. M. & Schu, P. (2014)
Journal of Cell Science, 127(16) pp. 3477-3487. DOI: https://doi.org/10.1242/jcs.146886
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2015 | Journal Article | Letter Note
Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction
Peng, J.; Alam, S.; Radhakrishnan, K.; Mariappan, M.; Rudolph, M. G.; May, C. & Dierks, T. et al. (2015)
FEBS Journal, 282(17) pp. 3262-3274. DOI: https://doi.org/10.1111/febs.13347
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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
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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
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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
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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
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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
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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
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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
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