Principal Investigator

Molecular Biology of Retinal Degenerations

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Marius Ueffing

SurnameUeffing
First nameMarius
NationalityGermany
Present position and titleProfessor, Dr. rer.nat.
Head of the Division of Molecular Biology of Retinal Degenerations
Head of the Core Facility for Medical Bioanalytics
Director of the Institute for Ophthalmic Research

Business address

Molecular Biology of Retinal Degenerations

Institute for Ophthalmic Research
Centre for Ophthalmology,
University of Tübingen
Elfriede-Aulhorn-Strasse 7
D-72076 Tübingen,
Germany

Phone: +49 (0)7071 29-84020
Fax: +49 (0)7071 29-4560
E-mail: marius.ueffing[at]uni-tuebingen.de

Academic Education

Year Degree University Field of study
1989 - 1993 PhD / Dr. rer. nat. Columbia University, College of Physicians & Surgeons, New York City, USA
Albert-Ludwigs-Universität Freiburg
Molecular Genetics and Biochemistry
1981 – 1987 State Exam in Biology Albert-Ludwigs-Universität Freiburg Medicine, Biology

Professional Experience

Period Institution Position Discipline
4/2011 – current Institute for Ophthalmic Research,
Centre for Ophthalmology, University Hospital, University of Tübingen, Germany
Professor / Director / Group Leader Ophthalmic Research
2010 – 2011 Division of Experimental Ophthalmology
Centre for Ophthalmology, University Hospital, University of Tübingen, Germany
Professor / Group Leader Ophthalmic Research
2008 – current Helmholtz Zentrum München, Munich, Germany Head of Research Unit Protein Science
2000 - 2008 Institute of Human Genetics, at GSF-National Research Center for Environment and Health in Munich, Germany Group Leader
1997 – 1999 Dept. of Medical Genetics, LMU University of Munich, Germany Group Leader  
1995 – 1997 Institute of Clinical Molecular Biology at GSF-National Research Center for Environment and Health in Munich, Germany Group Leader and Deputy Director
1993 – 1995 Institute of Clinical Molecular Biology at GSF-National Research Center for Environment and Health in Munich, Germany Junior Group Leader
1991 – 1992  Goedecke-Parke Davis, New York City USA and Freiburg Germany Research Scientist
1988 - 1991 Columbia University, College of Physicians & Surgeons, New York City, USA Research Associate

Professional Activities and Functions

2015 - Coordinator of the European Research Innovation Action EYE-RISK
2013 - Member of the Board of Administration of German Society of Proteome Research, DGPF
2011 - 2013 Vice President, German Society of Proteome Research, DGPF
2009 - 2011 President, German Society of Proteome Research, DGPF; (www.dgpf.org)
2008 - current Member of the Board of Directors, Human Proteome Organisation, HUPO (www.hupo.org)
2008 - current Member of the Steering Committee, Helmholtz Alliance for Mental Health and Aging
2007 - current Member of the Steering Committee, Helmholtz Programme Systemic Analysis of Multifactorial Diseases
2003 - 2009 Member of the Steering Committee, EU 6th FW InteractionProteome (EU Research Project on Functional Proteomics)
2010 - 2015 Co-Coordinator, EU 7thFW SYSCILIA (EU Research Project on Ciliary Diseases)
2005 - 2009 Member of the Steering Committee, Systems Biology Program, BMBF, German Ministry of Science and Education
2009 - 2013 Coordinator BMBF Federal Research Cluster SYSTEC - Imaging
2009 - 2013 Coordinator BMBF Federal Research Cluster SYSTEC - Dynamo

Selected Publications

  1. Trifunović D, Arango-Gonzalez B, Comitato A, Barth M, Del Amo EM, Kulkarni M, Sahaboglu A, Hauck SM, Urtti A, Arsenijevic Y, Ueffing M, Marigo V, Paquet-Durand F. HDAC inhibition in the cpfl1 mouse protects degenerating cone photoreceptors in vivo. Hum Mol Genet. 2016 Aug 15. pii: ddw275. [Epub ahead of print] PubMed PMID: 27530254.
  2. Kortvely E, Hauck SM, Behler J, Ho N, Ueffing M. The unconventional secretion of ARMS2. Hum Mol Genet. 2016 Jun 6. pii: ddw162. [Epub ahead of print] PubMed PMID: 27270414.
  3. Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R; UK10K Rare Diseases Group. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nat Commun. 2016 May 13;7:11491. doi: 10.1038/ncomms11491. PubMed PMID: 27173435; PubMed Central PMCID: PMC4869170.
  4. Valdés J, Trachsel-Moncho L, Sahaboglu A, Trifunović D, Miranda M, Ueffing M, Paquet-Durand F, Schmachtenberg O. Organotypic retinal explant cultures as in vitro alternative for diabetic retinopathy studies. ALTEX. 2016 May 9. doi: 10.14573/altex.1603111. [Epub ahead of print] PubMed PMID: 27159027.
  5. Ly A, Merl-Pham J, Priller M, Gruhn F, Senninger N, Ueffing M, Hauck SM. Proteomic Profiling Suggests Central Role Of STAT Signaling during Retinal Degeneration in the rd10 Mouse Model. J Proteome Res. 2016 Apr 1;15(4):1350-9. doi: 10.1021/acs.jproteome.6b00111. Epub 2016 Mar 14. PubMed PMID: 26939627.
  6. Ivanov IV, Leitritz MA, Norrenberg LA, Völker M, Dynowski M, Ueffing M, Dietter J. Human Vision-Motivated Algorithm Allows Consistent Retinal Vessel Classification Based on Local Color Contrast for Advancing General Diagnostic Exams. Invest Ophthalmol Vis Sci. 2016 Feb;57(2):731-8. doi: 10.1167/iovs.15-17831. PubMed PMID: 26906159.
  7. Schultheiss M, Schnichels S, Hermann T, Hurst J, Feldkaemper M, Arango-Gonzalez B, Ueffing M, Bartz-Schmidt KU, Zeck G, Spitzer MS. Hypothermia Protects and Prolongs the Tolerance Time of Retinal Ganglion Cells against Ischemia. PLoS One. 2016 Feb 5;11(2):e0148616. doi: 10.1371/journal.pone.0148616. eCollection 2016. PubMed PMID: 26848953; PubMed Central PMCID: PMC4744055.
  8. Sanders AA, de Vrieze E, Alazami AM, Alzahrani F, Malarkey EB, Sorusch N, Tebbe L, Kuhns S, van Dam TJ, Alhashem A, Tabarki B, Lu Q, Lambacher NJ, Kennedy JE, Bowie RV, Hetterschijt L, van Beersum S, van Reeuwijk J, Boldt K, Kremer H, Kesterson RA, Monies D, Abouelhoda M, Roepman R, Huynen MH, Ueffing M, Russell RB, Wolfrum U, Yoder BK, van Wijk E, Alkuraya FS, Blacque OE. KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. Genome Biol. 2015 Dec 29;16:293. doi: 10.1186/s13059-015-0858-z. PubMed PMID: 26714646; PubMed Central PMCID: PMC4699358.
  9. Oroszlán G, Kortvely E, Szakács D, Kocsis A, Dammeier S, Zeck A, Ueffing M, Závodszky P, Pál G, Gál P, Dobó J. MASP-1 and MASP-2 Do Not Activate Pro-Factor D in Resting Human Blood, whereas MASP-3 Is a Potential Activator: Kinetic Analysis Involving Specific MASP-1 and MASP-2 Inhibitors. J Immunol. 2016 Jan 15;196(2):857-65. doi: 10.4049/jimmunol.1501717. Epub 2015 Dec 16. PubMed PMID: 26673137.
  10. Dammeier S, Nahnsen S, Veit J, Wehner F, Ueffing M, Kohlbacher O. Mass-Spectrometry-Based Proteomics Reveals Organ-Specific Expression Patterns To Be Used as Forensic Evidence. J Proteome Res. 2016 Jan 4;15(1):182-92. doi: 10.1021/acs.jproteome.5b00704. Epub 2015 Dec 8. PubMed PMID: 26593679.
  11. Bachmann-Gagescu R, Dona M, Hetterschijt L, Tonnaer E, Peters T, de Vrieze E, Mans DA, van Beersum SE, Phelps IG, Arts HH, Keunen JE, Ueffing M, Roepman R, Boldt K, Doherty D, Moens CB, Neuhauss SC, Kremer H, van Wijk E. The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking. PLoS Genet. 2015 Oct 20;11(10):e1005575. doi: 10.1371/journal.pgen.1005575. eCollection 2015 Oct. PubMed PMID: 26485645; PubMed Central PMCID: PMC4617701.
  12. Dona M, Bachmann-Gagescu R, Texier Y, Toedt G, Hetterschijt L, Tonnaer EL, Peters TA, van Beersum SE, Bergboer JG, Horn N, de Vrieze E, Slijkerman RW, van Reeuwijk J, Flik G, Keunen JE, Ueffing M, Gibson TJ, Roepman R, Boldt K, Kremer H, van Wijk E. NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish. PLoS Genet. 2015 Oct 20;11(10):e1005574. doi: 10.1371/journal.pgen.1005574. eCollection 2015 Oct. PubMed PMID: 26485514; PubMed Central PMCID: PMC4617706.
  13. Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TM, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJ, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJ, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol. 2015 Aug;17(8):1074-87. doi: 10.1038/ncb3201. Epub 2015 Jul 13. PubMed PMID: 26167768; PubMed Central PMCID: PMC4536769.
  14. Schäfer A, Neschen S, Kahle M, Sarioglu H, Gaisbauer T, Imhof A, Adamski J, Hauck SM, Ueffing M. The Epoxyeicosatrienoic Acid Pathway Enhances Hepatic Insulin Signaling and is Repressed in Insulin-Resistant Mouse Liver. Mol Cell Proteomics. 2015 Oct;14(10):2764-74. doi: 10.1074/mcp.M115.049064. Epub 2015 Jun 12. PubMed PMID: 26070664; PubMed Central PMCID: PMC4597150.
  15. Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074. Erratum in: Nat Commun. 2016;7:11270. PubMed PMID: 26044572; PubMed Central PMCID: PMC4468853.
  16. Thompson RB, Reffatto V, Bundy JG, Kortvely E, Flinn JM, Lanzirotti A, Jones EA, McPhail DS, Fearn S, Boldt K, Ueffing M, Ratu SG, Pauleikhoff L, Bird AC, Lengyel I. Identification of hydroxyapatite spherules provides new insight into subretinal pigment epithelial deposit formation in the aging eye. Proc Natl Acad Sci U S A. 2015 Feb 3;112(5):1565-70. doi: 10.1073/pnas.1413347112. Epub 2015 Jan 20. Erratum in: Proc Natl Acad Sci U S A. 2015 Jul 21;112(29):E3971. PubMed PMID: 25605911; PubMed Central PMCID: PMC4321314.
  17. Ly A, Schöne C, Becker M, Rattke J, Meding S, Aichler M, Suckau D, Walch A, Hauck SM, Ueffing M. High-resolution MALDI mass spectrometric imaging of lipids in the mammalian retina. Histochem Cell Biol. 2015 May;143(5):453-62. doi: 10.1007/s00418-014-1303-1. Epub 2014 Dec 23. PubMed PMID: 25534592.
  18. Boldt K, Gloeckner CJ, Texier Y, von Zweydorf F, Ueffing M. Applying SILAC for the differential analysis of protein complexes. Methods Mol Biol. 2014;1188:177-90. doi: 10.1007/978-1-4939-1142-4_13. PubMed PMID: 25059612.
  19. Uhl PB, Szober CM, Amann B, Alge-Priglinger C, Ueffing M, Hauck SM, Deeg CA. In situ cell surface proteomics reveals differentially expressed membrane proteins in retinal pigment epithelial cells during autoimmune uveitis. J Proteomics. 2014 Sep 23;109:50-62. doi: 10.1016/j.jprot.2014.06.020. Epub 2014 Jul 2. PubMed PMID: 24998980.
  20. von Toerne C, Menzler J, Ly A, Senninger N, Ueffing M, Hauck SM. Identification of a novel neurotrophic factor from primary retinal Müller cells using stable isotope labeling by amino acids in cell culture (SILAC). Mol Cell Proteomics. 2014 Sep;13(9):2371-81. doi: 10.1074/mcp.M113.033613. Epub 2014 Jun 12. PubMed PMID: 24925906; PubMed Central PMCID: PMC4159655.