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Molecular Medicine Partnership Unit


Former MMPU Research Group Cholesterol Regulation

Heiko Runz and Rainer Pepperkok
Heiko Runz and Rainer Pepperkok

Heiko Runz and Rainer Pepperkok,

MMPU Group 2007 - 2014
Project Summary

Our research interest aims to identify and functionally characterize novel factors regulating cellular cholesterol metabolism. Our long-term goals are a better molecular understanding of elevated blood cholesterol levels (hypercholesterolemia) and Niemann-Pick Type C (NPC) disease with the perspectives to develop novel diagnostic and therapeutic tools. The experimental approaches we use are (i) identification of candidate genes by disease related gene expression analyses, (ii) cell biological characterization of candidate genes with respect to cholesterol metabolism and (iii) analysis of possible gene defects in patient samples.



Cholesterol levels in animal cells need to be tightly balanced. Within recent years, a network of proteins has been identified that keep cellular cholesterol levels to narrow limits. The concerted interplay of these proteins confers that reduced levels of membrane-bound cholesterol may activate the expression of genes necessary to increase cholesterol levels in cells, e.g. by uptake of low-density lipoprotein (LDL)-bound cholesterol or cholesterol biosynthesis. It is, however, assumed that only a limited number of proteins involved in cellular cholesterol regulation have been identified to date.


Important Publications

Systematic Cell-Based Phenotyping of Missense Alleles.
Thormählen AS, Runz H
Methods Mol Biol. 2017;1601:215-228. doi: 10.1007/978-1-4939-6960-9_17.PMID:28470529


Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.
Ebrahimi-Fakhari D, Wahlster L, Bartz F, Werenbeck-Ueding J, Praggastis M, Zhang J, Joggerst-Thomalla B, Theiss S, Grimm D, Ory DS, Runz H
Hum Mol Genet. 2016 Aug 15;25(16):3588-3599. doi: 10.1093/hmg/ddw204. Epub 2016 Jul 4.PMID:27378690


Opens external link in new windowSystematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction.
Thormaehlen AS, Schuberth C, Won HH, Blattmann P, Joggerst-Thomalla B, Theiss S, Asselta R, Duga S, Merlini PA, Ardissino D, Lander ES, Gabriel S, Rader DJ, Peloso GM, Pepperkok R, Kathiresan S, Runz H.
PLoS Genet. 2015 Feb 3;11(2):e1004855. doi: 10.1371/journal.pgen.1004855. eCollection 2015 Feb.PMID:25647241

Opens external link in new windowTransmembrane Protein 55B Is a Novel Regulator of Cellular Cholesterol Metabolism.
Medina MW, Bauzon F, Naidoo D, Theusch E, Stevens K, Schilde J, Schubert C, Mangravite LM, Rudel LL, Temel RE, Runz H, Krauss RM.
Arterioscler Thromb Vasc Biol. 2014 Sep;34(9):1917-23. doi: 10.1161/ATVBAHA.113.302806. Epub 2014 Jul 17. PMID:25035345

Opens external link in new window
Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation
Blake J, Riddell A, Theiss S, Gonzalez AP, Haase B, Jauch A, Janssen JW, Ibberson D, Pavlinic D, Moog U, Benes V, Runz H.
PLoS One. 2014 Mar 13;9(3):e90894. doi: 10.1371/journal.pone.0090894. eCollection 2014.

Opens external link in new windowCharacterization of drug-induced transcriptional modules: towards drug repositioning and functional understanding
Iskar M, Zeller G, Blattmann P, Campillos M, Kuhn M, Kaminska KH, Runz H, Gavin AC, Pepperkok R, van Noort V, Bork P.
Mol Syst Biol. 2013 Apr 30;9:662. doi: 10.1038/msb.2013.20


Opens external link in new windowRNAi-based functional profiling of loci from blood lipid genome-wide association studies identifies genes with cholesterol-regulatory functions.
Blattmann P, Schuberth C, Pepperkok R, Runz H.
PLOS Genetics 2013, Feb;9(2):e1003338


Opens external link in new windowIdentification of cholesterol-regulating genes by targeted RNAi-screening
Bartz F, Kern L, Erz D, Zhu M, Gilbert D, Meinhof T, Wirkner U, Erfle H, Muckenthaler M, Pepperkok R, Runz H 
Cell Metabolism 8 July 2009, 10, 63-75


Opens external link in new windowDetecTiff: A novel image analysis routine for high content screening microscopy
Gilbert D, Meinhof T, Pepperkok R, Runz H. 
J Biomol Screen. 2009 Sep;14(8):944-55. Epub 2009 Jul 29


Opens external link in new windowSterols regulate ER-export dynamics of secretory cargo protein ts-O45-G
Runz H, Miura K, Weiss M and Pepperkok R. 
 2006, 25(13), 2953-65.


Opens external link in new windowInhibition of intracellular cholesterol transport alters presenilin localization and APP processing in neuronal cells
Runz H, Rietdorf J, Tomic I, de Bernard M, Beyreuther K, Pepperkok R and Hartmann T. 
J. Neuroscience 2002, 22(5), 1679-89


Group members

in alphabetical order

Fabian Bartz, PhD Student
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Peter Blattmann, PhD Student
Postdoc ETH Zurich

Luise Kern, PhD Student


Brigitte Joggerst

Opens external link in new windowRainer Pepperkok, PhD
Group Leader


Heiko Runz, MD
Group Leader
now:Medical Director Genetics, Biogen Inc., Cambridge, MA, USA


Christian Schuberth, PhD
Advanced Imaging Platform, Muenster University Clinics

Carolina Taengemo, PhD
Centre for Cellular Imaging (CCI) Sahlgrenska Academy University of Gothenburg, Sweden


Aenne Solvejg Thormählen
MD student (HRCMM Junior Career Fellowship JCF)
Opens window for sending emailaenne.thormaehlen@arcor.de
University of Heidelberg


Anthi Trasta
PhD student (EMBL International PhD Programme - EIPP)

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