Increased copper toxicity in Saccharomyces cerevisiae lacking VPS35, a component of the retromer and monogenic Parkinson disease gene in humans
Sowada, Nadine, Stiller, Barbara, Kubisch, Christian
Published in Biochemical and biophysical research communications (05.08.2016)
Published in Biochemical and biophysical research communications (05.08.2016)
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Molecular determinants of the crosstalk between endosomal microautophagy and chaperone-mediated autophagy
Krause, Gregory J., Kirchner, Philipp, Stiller, Barbara, Morozova, Kateryna, Diaz, Antonio, Chen, Kuei-Ho, Krogan, Nevan J., Agullo-Pascual, Esperanza, Clement, Cristina C., Lindenau, Kristen, Swaney, Danielle L., Dilipkumar, Shilpa, Bravo-Cordero, Jose Javier, Santambrogio, Laura, Cuervo, Ana Maria
Published in Cell reports (Cambridge) (26.12.2023)
Published in Cell reports (Cambridge) (26.12.2023)
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A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss
VON AMELN, Simon, GENG WANG, BORCK, Guntram, HONG, Jason S, GOODYEAR, Richard J, ABIDI, Omar, NÜRNBERG, Peter, HOFMANN, Kay, RICHARDSON, Guy P, HAMMERSCHMIDT, Matthias, MOSER, Tobias, WOLLNIK, Bernd, BOULOUIZ, Redouane, KOEHLER, Carla M, TEITELL, Michael A, BARAKAT, Abdelhamid, KUBISCH, Christian, RUTHERFORD, Mark A, SMITH, Geoffrey M, YUN LI, POGODA, Hans-Martin, NIIRNBERG, Gudrun, STILLER, Barbara, VOLK, Alexander E
Published in American journal of human genetics (02.11.2012)
Published in American journal of human genetics (02.11.2012)
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Interplay of pathogenic forms of human tau with different autophagic pathways
Caballero, Benjamin, Wang, Yipeng, Diaz, Antonio, Tasset, Inmaculada, Juste, Yves Robert, Stiller, Barbara, Mandelkow, Eva‐Maria, Mandelkow, Eckhard, Cuervo, Ana Maria
Published in Aging cell (01.02.2018)
Published in Aging cell (01.02.2018)
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α-Synuclein-independent histopathological and motor deficits in mice lacking the endolysosomal Parkinsonism protein Atp13a2
Kett, Lauren R, Stiller, Barbara, Bernath, Megan M, Tasset, Inmaculada, Blesa, Javier, Jackson-Lewis, Vernice, Chan, Robin B, Zhou, Bowen, Di Paolo, Gilbert, Przedborski, Serge, Cuervo, Ana Maria, Dauer, William T
Published in The Journal of neuroscience (08.04.2015)
Published in The Journal of neuroscience (08.04.2015)
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Hereditary parkinsonism with dementia is caused by mutations in ATP13A2 , encoding a lysosomal type 5 P-type ATPase
Al-Din, Amir, Hillmer, Axel M, Gründemann, Jan, Goebel, Ingrid, Woods, C Geoffrey, Stiller, Barbara, Wriekat, Abdul-Latif, Heimbach, André, Mubaidin, Ammar F, Behrens, Maria I, Cid, L Pablo, Karsak, Meliha, Ramirez, Alfredo, Kubisch, Christian, Liss, Birgit, Hampshire, Dan, Roeper, Jochen
Published in Nature genetics (01.10.2006)
Published in Nature genetics (01.10.2006)
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ADAMTS-7 Modulates Atherosclerotic Plaque Formation by Degradation of TIMP-1
Sharifi, M. Amin, Wierer, Michael, Dang, Tan An, Milic, Jelena, Moggio, Aldo, Sachs, Nadja, von Scheidt, Moritz, Hinterdobler, Julia, Müller, Philipp, Werner, Julia, Stiller, Barbara, Aherrahrou, Zouhair, Erdmann, Jeanette, Zaliani, Andrea, Graettinger, Mira, Reinshagen, Jeanette, Gul, Sheraz, Gribbon, Philip, Maegdefessel, Lars, Bernhagen, Jürgen, Sager, Hendrik B., Mann, Matthias, Schunkert, Heribert, Kessler, Thorsten
Published in Circulation research (29.09.2023)
Published in Circulation research (29.09.2023)
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Journal Article
Structural and Biological Interaction of hsc-70 Protein with Phosphatidylserine in Endosomal Microautophagy
Morozova, Kateryna, Clement, Cristina C., Kaushik, Susmita, Stiller, Barbara, Arias, Esperanza, Ahmad, Atta, Rauch, Jennifer N., Chatterjee, Victor, Melis, Chiara, Scharf, Brian, Gestwicki, Jason E., Cuervo, Ana-Maria, Zuiderweg, Erik R.P., Santambrogio, Laura
Published in The Journal of biological chemistry (26.08.2016)
Published in The Journal of biological chemistry (26.08.2016)
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Journal Article
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction
Fazeli, Walid, Herkenrath, Peter, Stiller, Barbara, Neugebauer, Antje, Fricke, Julia, Lang-Roth, Ruth, Nürnberg, Gudrun, Thoenes, Michaela, Becker, Jutta, Altmüller, Janine, Volk, Alexander E, Kubisch, Christian, Heller, Raoul
Published in Human molecular genetics (15.10.2017)
Published in Human molecular genetics (15.10.2017)
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Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism
Park, Jin-Sung, Mehta, Prachi, Cooper, Antony A., Veivers, David, Heimbach, André, Stiller, Barbara, Kubisch, Christian, Fung, Victor S., Krainc, Dimitri, Mackay-Sim, Alan, Sue, Carolyn M.
Published in Human mutation (01.08.2011)
Published in Human mutation (01.08.2011)
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Cis-epistasis at the LPA locus and risk of cardiovascular diseases
Zeng, Lingyao, Moser, Sylvain, Mirza-Schreiber, Nazanin, Lamina, Claudia, Coassin, Stefan, Nelson, Christopher P, Annilo, Tarmo, Franzén, Oscar, Kleber, Marcus E, Mack, Salome, Andlauer, Till F M, Jiang, Beibei, Stiller, Barbara, Li, Ling, Willenborg, Christina, Munz, Matthias, Kessler, Thorsten, Kastrati, Adnan, Laugwitz, Karl-Ludwig, Erdmann, Jeanette, Moebus, Susanne, Nöthen, Markus M, Peters, Annette, Strauch, Konstantin, Müller-Nurasyid, Martina, Gieger, Christian, Meitinger, Thomas, Steinhagen-Thiessen, Elisabeth, März, Winfried, Metspalu, Andres, Björkegren, Johan L M, Samani, Nilesh J, Kronenberg, Florian, Müller-Myhsok, Bertram, Schunkert, Heribert
Published in Cardiovascular research (16.03.2022)
Published in Cardiovascular research (16.03.2022)
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Network analysis of coronary artery disease risk genes elucidates disease mechanisms and druggable targets
Lempiäinen, Harri, Brænne, Ingrid, Michoel, Tom, Tragante, Vinicius, Vilne, Baiba, Webb, Tom R, Kyriakou, Theodosios, Eichner, Johannes, Zeng, Lingyao, Willenborg, Christina, Franzen, Oscar, Ruusalepp, Arno, Goel, Anuj, van der Laan, Sander W, Biegert, Claudia, Hamby, Stephen, Talukdar, Husain A, Foroughi Asl, Hassan, Pasterkamp, Gerard, Watkins, Hugh, Samani, Nilesh J, Wittenberger, Timo, Erdmann, Jeanette, Schunkert, Heribert, Asselbergs, Folkert W, Björkegren, Johan L M
Published in Scientific reports (21.02.2018)
Published in Scientific reports (21.02.2018)
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Functional investigation of the coronary artery disease gene SVEP1
Winkler, Michael J., Müller, Philipp, Sharifi, Amin M., Wobst, Jana, Winter, Hanna, Mokry, Michal, Ma, Lijiang, van der Laan, Sander W., Pang, Shichao, Miritsch, Benedikt, Hinterdobler, Julia, Werner, Julia, Stiller, Barbara, Güldener, Ulrich, Webb, Tom R., Asselbergs, Folkert W., Björkegren, Johan L. M., Maegdefessel, Lars, Schunkert, Heribert, Sager, Hendrik B., Kessler, Thorsten
Published in Basic research in cardiology (01.12.2020)
Published in Basic research in cardiology (01.12.2020)
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Journal Article
eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation
Borck, Guntram, Shin, Byung-Sik, Stiller, Barbara, Mimouni-Bloch, Aviva, Thiele, Holger, Kim, Joo-Ran, Thakur, Meghna, Skinner, Cindy, Aschenbach, Lara, Smirin-Yosef, Pola, Har-Zahav, Adi, Nürnberg, Gudrun, Altmüller, Janine, Frommolt, Peter, Hofmann, Kay, Konen, Osnat, Nürnberg, Peter, Munnich, Arnold, Schwartz, Charles E., Gothelf, Doron, Colleaux, Laurence, Dever, Thomas E., Kubisch, Christian, Basel-Vanagaite, Lina
Published in Molecular cell (30.11.2012)
Published in Molecular cell (30.11.2012)
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Cd{sup 2+}, Mn{sup 2+}, Ni{sup 2+} and Se{sup 2+} toxicity to Saccharomyces cerevisiae lacking YPK9p the orthologue of human ATP13A2
Schmidt, Karyn, Wolfe, Devin M., Stiller, Barbara, Institute for Genetics, University of Cologne, Cologne, Pearce, David A., Aab Institute of Biomedical Sciences, Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642
Published in Biochemical and biophysical research communications (29.05.2009)
Published in Biochemical and biophysical research communications (29.05.2009)
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Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease
Rakovic, Aleksandar, Stiller, Barbara, Djarmati, Ana, Flaquer, Antonia, Freudenberg, Jan, Toliat, Mohammad-Reza, Linnebank, Michael, Kostic, Vladimir, Lohmann, Katja, Paus, Sebastian, Nürnberg, Peter, Kubisch, Christian, Klein, Christine, Wüllner, Ullrich, Ramirez, Alfredo
Published in Movement disorders (15.02.2009)
Published in Movement disorders (15.02.2009)
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