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

Autor Runz, Heiko, Miura, Kota, Weiss, Matthias, Pepperkok, Rainer
Vydáno 2006

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

Autor Blattmann, Peter, Schuberth, Christian, Pepperkok, Rainer, Runz, Heiko
Vydáno 2013

A deaf mother and son with diabetes and renal failure

Autor Schanz, Jurik, Rudofsky, Gottfried, Runz, Heiko, Rath, Thomas
Vydáno v Clin Kidney J (2012)

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

Autor Tängemo, Carolina, Weber, Dominik, Theiss, Susanne, Mengel, Eugen, Runz, Heiko
Vydáno 2011

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

Autor Runz, Heiko, Rietdorf, Jens, Tomic, Inge, de Bernard, Marina, Beyreuther, Konrad, Pepperkok, Rainer, Hartmann, Tobias
Vydáno v J Neurosci (2002)

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

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

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

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

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

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

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

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

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

Autor 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
Vydáno 2013

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

Autor 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
Vydáno v 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

Autor 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
Vydáno 2012

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

Autor 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
Vydáno 2014

TMEM55B is a Novel Regulator of Cellular Cholesterol Metabolism

Autor 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.
Vydáno 2014

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

Autor 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
Vydáno v 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

Autor 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.
Vydáno v Orphanet J Rare Dis (2018)

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

Autor 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
Vydáno 2013

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

Autor 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
Vydáno v PLoS Genet (2015)

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

Autor 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
Vydáno 2012

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

Autor 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.
Vydáno v Sci Transl Med (2016)