Prof. Dr. med. Matias Simons

Heidelberg University
University Hospital Heidelberg
Institute of Human Genetics
Im Neuenheimer Feld 366
D-69120 Heidelberg
 

E-mail: matias.simons@med.uni-heidelberg.de

 

Homepage

Scientific CV

Academic education and professional career

since 2020
 
since 2020
 
since 2018

2016
2014-2019
 
2009-2014
 
2008-2014
 
2005-2008
 
2002-2005
 
2002

Heisenberg W3-Professor for Molecular Human Genetics, University Hospital Heidelberg, Heidelberg University, Germany
Head of Section for Nephrogenetics at the Institute of Human Genetics, University Hospital Heidelberg, Heidelberg University, Germany
Research Director at INSERM (permanent position), Paris, France

Habilitation à diriger des recherches (HDR), Université Paris-Descartes, France
Liliane Bettencourt Chair of Developmental Biology and Group leader at Imagine Institute Hôpital Necker, Paris Descartes University, Paris, France
W2/W3-Professorship for Medical Systems Biology (tenure-track) at the Faculty of Medicine, University of Freiburg, Germany
Emmy-Noether fellow and Group Leader at the Renal Division, University Hospital Freiburg, Germany
Postdoctoral Fellow at the Department of Developmental and Regenerative Biology, Mount Sinai School of Medicine, New York, USA
Clinical Resident and Postdoctoral Fellow at the Department of Medicine, Renal Division, University Hospital Freiburg, Germany

Dr. med., Heidelberg University, Germany (MD Thesis at the Institute of Anatomy and Cell Biology, Heidelberg University; EMBL, Heidelberg and Albert Einstein College of Medicine, Bronx, NY, USA)

Other achievements & Awards

2020
2019
2019
2015
2015
2011-2014
 
2011-2014
2011-2014
 
2010-2014

2010-2014
2009-2012
 
2009-2014

2007-2008
2005-2007
2005
2000

Carl-Ludwig Award of the German Society for Nephrology
ERC Consolidator Grant recipient
Heisenberg fellow by the Deutsche Forschungsgemeinschaft (DFG)
ATIP Avenir-recipient
ANR @traction recipient

Associated Member of the DFG Graduate Program (GRK1104: From cells to organs: Molecular Mechanisms of Organogenesis, University of Freiburg
Board of Directors of Center of the Systems Biology (ZBSA), University of Freiburg

Associated Member of the DFG Excellence Cluster BIOSS (Centre for Biological Signaling Studies)
Member of the Freiburg Center for Rare Diseases
Scientific member of the ZBSA, University of Freiburg
Associated Member of the DFG Collaborative Research Center (SFB592: Signaling Mechanisms in Embryogenesis and Organogenesis), University of Freiburg
Emmy-Noether fellow by the DFG
DFG fellow (Auslandsstipendium)
EMBO long term fellow
Theodor-Frerichs-Award of the German Society for Internal Medicine
EMBO short term fellow

Publications

  1. Cannata Serio, M., L.A. Graham, A. Ashikov, L.E. Larsen, K. Raymond, S. Timal, G. Le Meur, M. Ryan, E. Czarnowska, J.C. Jansen, M. He, C. Ficicioglu, P. Pichurin, L. Hasadsri, W.A. Rios-Ocampo, C. Gilissen, R. Rodenburg, J.W. Jonker, A.G. Holleboom, E. Morava, J.A. Veltman, P. Socha, T.H. Stevens, M. Simons*, and D.J. Lefeber* (*co-corresponding author). 2020. Mutations in the V-ATPase assembly factor VMA21 cause a congenital disorder of glycosylation with autophagic liver disease. Hepatology. PMID: 32145091
  2. Bedin, M., O. Boyer, A. Servais, Y. Li, L. Villoing-Gaude, M.J. Tete, A. Cambier, J. Hogan, V. Baudouin, S. Krid, A. Bensman, F. Lammens, F. Louillet, B. Ranchin, C. Vigneau, I. Bouteau, C. Isnard-Bagnis, C.J. Mache, T. Schafer, L. Pape, M. Godel, T.B. Huber, M. Benz, G. Klaus, M. Hansen, K. Latta, O. Gribouval, V. Moriniere, C. Tournant, M. Grohmann, E. Kuhn, T. Wagner, C. Bole-Feysot, F. Jabot-Hanin, P. Nitschke, T.S. Ahluwalia, A. Kottgen, C.B.F. Andersen, C. Bergmann, C. Antignac, and M. Simons. 2020. Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function. J Clin Invest. 130:335-344. PMID: 31613795
  3. Marchesin, V., A. Perez-Marti, G. Le Meur, R. Pichler, K. Grand, E.D. Klootwijk, A. Kesselheim, R. Kleta, S. Lienkamp, and M. Simons. 2019. Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A. Cell Rep. 29:4407-4421 e4405. PMID: 31875549
  4. Goncalves, S., J. Patat, M.C. Guida, N. Lachaussee, C. Arrondel, M. Helmstadter, O. Boyer, O. Gribouval, M.C. Gubler, G. Mollet, M. Rio, M. Charbit, C. Bole-Feysot, P. Nitschke, T.B. Huber, P.G. Wheeler, D. Haynes, J. Juusola, T. Billette de Villemeur, C. Nava, A. Afenjar, B. Keren, R. Bodmer, C. Antignac, and M. Simons. 2018. A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies. PLoS Genet. 14:e1007386. PMID: 29768408
  5. Guida, M.C., T. Hermle, L.A. Graham, V. Hauser, M. Ryan, T.H. Stevens, and M. Simons. 2018. ATP6AP2 functions as a V-ATPase assembly factor in the endoplasmic reticulum. Mol Biol Cell. 29:2156-2164. PMID: 29995586
  6. Rujano, M.A., M. Cannata Serio, G. Panasyuk, R. Peanne, J. Reunert, D. Rymen, V. Hauser, J.H. Park, P. Freisinger, E. Souche, M.C. Guida, E.M. Maier, Y. Wada, S. Jager, N.J. Krogan, O. Kretz, S. Nobre, P. Garcia, D. Quelhas, T.D. Bird, W.H. Raskind, M. Schwake, S. Duvet, F. Foulquier, G. Matthijs, T. Marquardt, and M. Simons. 2017. Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects. J Exp Med. 214:3707-3729. PMID: 29127204
  7. Trepiccione, F., S.D. Gerber, F. Grahammer, K.I. Lopez-Cayuqueo, V. Baudrie, T.G. Paunescu, D.E. Capen, N. Picard, R.T. Alexander, T.B. Huber, R. Chambrey, D. Brown, P. Houillier, D. Eladari, and M. Simons. 2016. Renal Atp6ap2/(Pro)renin Receptor Is Required for Normal Vacuolar H+-ATPase Function but Not for the Renin-Angiotensin System. J Am Soc Nephrol. 27:3320-3330. PMID: 27044666
  8. Gleixner, E.M., G. Canaud, T. Hermle, M.C. Guida, O. Kretz, M. Helmstadter, T.B. Huber, S. Eimer, F. Terzi, and M. Simons. 2014. V-ATPase/mTOR signaling regulates megalin-mediated apical endocytosis. Cell Rep. 8:10-19. PMID: 24953654
  9. Hermle, T., M.C. Guida, S. Beck, S. Helmstadter, and M. Simons. 2013. Drosophila ATP6AP2/VhaPRR functions both as a novel planar cell polarity core protein and a regulator of endosomal trafficking. EMBO J. 32:245-259. PMID: 23292348
  10. Hermle, T., D. Saltukoglu, J. Grunewald, G. Walz, and M. Simons. 2010. Regulation of Frizzled-dependent planar polarity signaling by a V-ATPase subunit. Curr Biol. 20:1269-1276. PMID: 2057987