Sterols regulate ER-export dynamics of secretory cargo protein ts-O45-G

by Runz, Heiko, Miura, Kota, Weiss, Matthias, Pepperkok, Rainer
Published 2006

RNAi–Based Functional Profiling of Loci from Blood Lipid Genome-Wide Association Studies Identifies Genes with Cholesterol-Regulatory Function

by Blattmann, Peter, Schuberth, Christian, Pepperkok, Rainer, Runz, Heiko
Published 2013

A deaf mother and son with diabetes and renal failure

by Schanz, Jurik, Rudofsky, Gottfried, Runz, Heiko, Rath, Thomas
Published in Clin Kidney J (2012)

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage

by Tängemo, Carolina, Weber, Dominik, Theiss, Susanne, Mengel, Eugen, Runz, Heiko
Published 2011

Inhibition of Intracellular Cholesterol Transport Alters Presenilin Localization and Amyloid Precursor Protein Processing in Neuronal Cells

by Runz, Heiko, Rietdorf, Jens, Tomic, Inge, de Bernard, Marina, Beyreuther, Konrad, Pepperkok, Rainer, Hartmann, Tobias
Published in J Neurosci (2002)

Exosome Secretion Ameliorates Lysosomal Storage of Cholesterol in Niemann-Pick Type C Disease

by Strauss, Katrin, Goebel, Cornelia, Runz, Heiko, Möbius, Wiebke, Weiss, Sievert, Feussner, Ivo, Simons, Mikael, Schneider, Anja
Published 2010

PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants

by Bodea, Corneliu A., Mitchell, Adele A., Bloemendal, Alex, Day-Williams, Aaron G., Runz, Heiko, Sunyaev, Shamil R.
Published in Genome Biol (2018)

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

by Stampfer, Miriam, Theiss, Susanne, Amraoui, Yasmina, Jiang, Xuntian, Keller, Sigrid, Ory, Daniel S, Mengel, Eugen, Fischer, Christine, Runz, Heiko
Published 2013

Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation

by Frühmesser, Anne, Blake, Jonathon, Haberlandt, Edda, Baying, Bianka, Raeder, Benjamin, Runz, Heiko, Spreiz, Ana, Fauth, Christine, Benes, Vladimir, Utermann, Gerd, Zschocke, Johannes, Kotzot, Dieter
Published 2013

Characterization of drug-induced transcriptional modules: towards drug repositioning and functional understanding

by Iskar, Murat, Zeller, Georg, Blattmann, Peter, Campillos, Monica, Kuhn, Michael, Kaminska, Katarzyna H, Runz, Heiko, Gavin, Anne-Claude, Pepperkok, Rainer, van Noort, Vera, Bork, Peer
Published 2013

Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells

by Ebrahimi-Fakhari, Darius, Wahlster, Lara, Bartz, Fabian, Werenbeck-Ueding, Jennifer, Praggastis, Maria, Zhang, Jessie, Joggerst-Thomalla, Brigitte, Theiss, Susanne, Grimm, Dirk, Ory, Daniel S., Runz, Heiko
Published in Hum Mol Genet (2016)

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

by Herzog, Andreas, Hartung, Ralf, Reuser, Arnold J J, Hermanns, Pia, Runz, Heiko, Karabul, Nesrin, Gökce, Seyfullah, Pohlenz, Joachim, Kampmann, Christoph, Lampe, Christina, Beck, Michael, Mengel, Eugen
Published 2012

Sequencing of a Patient with Balanced Chromosome Abnormalities and Neurodevelopmental Disease Identifies Disruption of Multiple High Risk Loci by Structural Variation

by Blake, Jonathon, Riddell, Andrew, Theiss, Susanne, Gonzalez, Alexis Perez, Haase, Bettina, Jauch, Anna, Janssen, Johannes W. G., Ibberson, David, Pavlinic, Dinko, Moog, Ute, Benes, Vladimir, Runz, Heiko
Published 2014

TMEM55B is a Novel Regulator of Cellular Cholesterol Metabolism

by Medina, Marisa W., Bauzon, Frederick, Naidoo, Devesh, Theusch, Elizabeth, Stevens, Kristen, Schilde, Jessica, Schubert, Christian, Mangravite, Lara M., Rudel, Lawrence L., Temel, Ryan E., Runz, Heiko, Krauss, Ronald M.
Published 2014

Systematic RNA-interference in primary human monocyte-derived macrophages: A high-throughput platform to study foam cell formation

by Domschke, Gabriele, Linden, Fabian, Pawig, Lukas, Hafner, Anna, Akhavanpoor, Mohammadreza, Reymann, Jürgen, Doesch, Andreas O., Erbel, Christian, Weber, Christian, Katus, Hugo A., Noels, Heidi, Erfle, Holger, Gleissner, Christian A., Runz, Heiko
Published in Sci Rep (2018)

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials

by Cortina-Borja, Mario, te Vruchte, Danielle, Mengel, Eugen, Amraoui, Yasmin, Imrie, Jackie, Jones, Simon A., i Dali, Christine, Fineran, Paul, Kirkegaard, Thomas, Runz, Heiko, Lachmann, Robin, Bremova-Ertl, Tatiana, Strupp, Michael, Platt, Frances M.
Published in Orphanet J Rare Dis (2018)

A Frequent PNPLA3 Variant Is a Sex Specific Disease Modifier in PSC Patients with Bile Duct Stenosis

by Friedrich, Kilian, Rupp, Christian, Hov, Johannes Roksund, Steinebrunner, Niels, Weiss, Karl-Heinz, Stiehl, Adolf, Brune, Maik, Schaefer, Petra Kloeters Yvonne, Schemmer, Peter, Sauer, Peter, Schirmacher, Peter, Runz, Heiko, Karlsen, Tom Hemming, Stremmel, Wolfgang, Gotthardt, Daniel Nils
Published 2013

Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction

by Thormaehlen, Aenne S., Schuberth, Christian, Won, Hong-Hee, Blattmann, Peter, Joggerst-Thomalla, Brigitte, Theiss, Susanne, Asselta, Rosanna, Duga, Stefano, Merlini, Pier Angelica, Ardissino, Diego, Lander, Eric S., Gabriel, Stacey, Rader, Daniel J., Peloso, Gina M., Pepperkok, Rainer, Kathiresan, Sekar, Runz, Heiko
Published in PLoS Genet (2015)

Invariant Natural Killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C

by Speak, Anneliese O, Platt, Nicholas, Salio, Mariolina, te Vruchte, Danielle Taylor, Smith, David A, Shepherd, Dawn, Veerapen, Natacha, Besra, Gurdyal, Yanjanin, Nicole M., Simmons, Louise, Imrie, Jackie, Wraith, James E., Lachmann, Robin, Hartung, Ralf, Runz, Heiko, Mengel, Eugen, Beck, Michael, Hendriksz, Christian J, Porter, Forbes D, Cerundolo, Vincenzo, Platt, Frances M
Published 2012

Development of a Bile Acid-Based Newborn Screen for Niemann-Pick C Disease

by Jiang, Xuntian, Sidhu, Rohini, Mydock, Laurel, Hsu, Fong-Fu, Covey, Douglas F., Scherrer, David E., Earley, Brian, Gale, Sarah E., Farhat, Nicole Y., Porter, Forbes D., Dietzen, Dennis J., Orsini, Joseph J., Berry-Kravis, Elizabeth, Zhang, Xiaokui, Reunert, Janice, Marquardt, Thorsten, Runz, Heiko, Giugliani, Roberto, Schaffer, Jean E., Ory, Daniel S.
Published in Sci Transl Med (2016)