Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition

Por Hauke, Jan, Riessland, Markus, Lunke, Sebastian, Eyüpoglu, Ilker Y., Blümcke, Ingmar, El-Osta, Assam, Wirth, Brunhilde, Hahnen, Eric
Publicado em 2009

Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585

Por Schreml, Julia, Riessland, Markus, Paterno, Mario, Garbes, Lutz, Roßbach, Kristina, Ackermann, Bastian, Krämer, Jan, Somers, Eilidh, Parson, Simon H, Heller, Raoul, Berkessel, Albrecht, Sterner-Kock, Anja, Wirth, Brunhilde
Publicado em 2013

SMN regulates axonal local translation via miR-183/mTOR pathway

Por Kye, Min Jeong, Niederst, Emily D., Wertz, Mary H., Gonçalves, Inês do Carmo G., Akten, Bikem, Dover, Katarzyna Z., Peters, Miriam, Riessland, Markus, Neveu, Pierre, Wirth, Brunhilde, Kosik, Kenneth S., Sardi, S. Pablo, Monani, Umrao R., Passini, Marco A., Sahin, Mustafa
Publicado no Hum Mol Genet (2014)

The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype

Por Hosseinibarkooie, Seyyedmohsen, Peters, Miriam, Torres-Benito, Laura, Rastetter, Raphael H., Hupperich, Kristina, Hoffmann, Andrea, Mendoza-Ferreira, Natalia, Kaczmarek, Anna, Janzen, Eva, Milbradt, Janine, Lamkemeyer, Tobias, Rigo, Frank, Bennett, C. Frank, Guschlbauer, Christoph, Büschges, Ansgar, Hammerschmidt, Matthias, Riessland, Markus, Kye, Min Jeong, Clemen, Christoph S., Wirth, Brunhilde
Publicado no Am J Hum Genet (2016)

Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy

Por Wishart, Thomas M., Mutsaers, Chantal A., Riessland, Markus, Reimer, Michell M., Hunter, Gillian, Hannam, Marie L., Eaton, Samantha L., Fuller, Heidi R., Roche, Sarah L., Somers, Eilidh, Morse, Robert, Young, Philip J., Lamont, Douglas J., Hammerschmidt, Matthias, Joshi, Anagha, Hohenstein, Peter, Morris, Glenn E., Parson, Simon H., Skehel, Paul A., Becker, Thomas, Robinson, Iain M., Becker, Catherina G., Wirth, Brunhilde, Gillingwater, Thomas H.
Publicado em 2014

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

Por Riessland, Markus, Kaczmarek, Anna, Schneider, Svenja, Swoboda, Kathryn J., Löhr, Heiko, Bradler, Cathleen, Grysko, Vanessa, Dimitriadi, Maria, Hosseinibarkooie, Seyyedmohsen, Torres-Benito, Laura, Peters, Miriam, Upadhyay, Aaradhita, Biglari, Nasim, Kröber, Sandra, Hölker, Irmgard, Garbes, Lutz, Gilissen, Christian, Hoischen, Alexander, Nürnberg, Gudrun, Nürnberg, Peter, Walter, Michael, Rigo, Frank, Bennett, C. Frank, Kye, Min Jeong, Hart, Anne C., Hammerschmidt, Matthias, Kloppenburg, Peter, Wirth, Brunhilde
Publicado no Am J Hum Genet (2017)

Cellular Senescence in Health, Disease and Aging: Blessing or Curse?

Publicado em 2021