Autor Radhakrishnan, Karthikeyan

• 2006 | Konferenzbeitrag (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.
  ​Details  WoS 

• 2008 | Zeitschriftenartikel
  ​ ​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 
  ​Details  DOI  PMID  PMC  WoS 

• 2008 | Zeitschriftenartikel
  ​ ​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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• 2008 | Zeitschriftenartikel
  ​ ​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 
  ​Details  DOI  PMID  PMC  WoS 

• 2009 | Rezension
  ​ ​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 
  ​Details  DOI  PMID  PMC  WoS 

• 2010 | Konferenzbeitrag (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.
  ​Details  WoS 

• 2011 | Zeitschriftenartikel | 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. u.a.​ (2011) 
  European Journal of Human Genetics, 19(3) pp. 253​-261​.​ DOI: https://doi.org/10.1038/ejhg.2010.219 
  ​Details  DOI  PMID  PMC  WoS 

• 2012 | Konferenzbeitrag (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.
  ​Details  WoS 

• 2013 | Zeitschriftenartikel
  ​ ​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 
  ​Details  DOI  PMID  PMC  WoS 

• 2013 | Zeitschriftenartikel | 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 | Zeitschriftenartikel
  ​ ​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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• 2014 | Zeitschriftenartikel
  ​ ​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 | Zeitschriftenartikel | 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. u.a.​ (2015) 
  FEBS Journal, 282(17) pp. 3262​-3274​.​ DOI: https://doi.org/10.1111/febs.13347 
  ​Details  DOI  PMID  PMC  WoS 

• 2017 | Zeitschriftenartikel
  ​ ​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. u.a.​ (2017) 
  Molecular Genetics and Metabolism, 121(3) pp. 252​-258​.​ DOI: https://doi.org/10.1016/j.ymgme.2017.05.013 
  ​Details  DOI 

• 2018 | Zeitschriftenartikel
  ​ ​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 

• 2019 | Zeitschriftenartikel
  ​ ​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. u.a.​ (2019) 
  Molecular Genetics and Metabolism, 126(2) pp. S135​-S136​.​ DOI: https://doi.org/10.1016/j.ymgme.2018.12.349 
  ​Details  DOI 

• 2019 | Zeitschriftenartikel
  ​ ​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 

• 2020 | Zeitschriftenartikel
  ​ ​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. u.a.​ (2020) 
  Journal of Inherited Metabolic Disease, 43(6) pp. 1298​-1309​.​ DOI: https://doi.org/10.1002/jimd.12298 
  ​Details  DOI 

• 2020 | Zeitschriftenartikel
  ​ ​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. u.a.​ (2020) 
  Molecular Genetics & Genomic Medicine, 8(9).​ DOI: https://doi.org/10.1002/mgg3.1167 
  ​Details  DOI 

• 2020 | Zeitschriftenartikel | 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 

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