Search Results - "Rutschow, Désirée"

Biguanide metformin acts on tau phosphorylation via mTOR/protein phosphatase 2A (PP2A) signaling by Kickstein, Eva, Krauss, Sybille, Thornhill, Paul, Rutschow, Désirée, Zeller, Raphael, Sharkey, John, Williamson, Ritchie, Fuchs, Melanie, Köhler, Andrea, Glossmann, Hartmut, Schneider, Rainer, Sutherland, Calum, Schweiger, Susann, Südhof, Thomas C.

“…Hyperphosphorylated tau plays an important role in the formation of neurofibrillary tangles in brains of patients with Alzheimer's disease (AD) and related…”
Get full text

Protein Phosphatase 2A (PP2A)-specific Ubiquitin Ligase MID1 Is a Sequence-dependent Regulator of Translation Efficiency Controlling 3-Phosphoinositide-dependent Protein Kinase-1 (PDPK-1) by Aranda-Orgillés, Beatriz, Rutschow, Désirée, Zeller, Raphael, Karagiannidis, Antonios I., Köhler, Andrea, Chen, Changwei, Wilson, Timothy, Krause, Sven, Roepcke, Stefan, Lilley, David, Schneider, Rainer, Schweiger, Susann

“…We have shown previously that the ubiquitin ligase MID1, mutations of which cause the midline malformation Opitz BBB/G syndrome (OS), serves as scaffold for a…”
Get full text

Prevention of cardiomyopathy in δ-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vectors by Goehringer, Caroline, Rutschow, Désirée, Bauer, Ralf, Schinkel, Stefanie, Weichenhan, Dieter, Bekeredjian, Raffi, Straub, Volker, Kleinschmidt, Jürgen A., Katus, Hugo A., Müller, Oliver J.

“…Aims δ-Sarcoglycan is a member of the dystrophin-associated glycoprotein complex linking the cytoskeleton to the extracellular matrix. Similar to patients with…”
Get full text

Long-term preservation of cardiac structure and function after adeno-associated virus serotype 9-mediated microdystrophin gene transfer in mdx mice by Schinkel, Stefanie, Bauer, Ralf, Bekeredjian, Raffi, Stucka, Rolf, Rutschow, Désirée, Lochmüller, Hanns, Kleinschmidt, Jürgen A, Katus, Hugo A, Müller, Oliver J

“…Dystrophin plays an important role in muscle contraction, linking the intracellular cytoskeleton to the extracellular matrix. Mutations of the dystrophin gene…”
Get more information

S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice by Rutschow, Désirée, Bauer, Ralf, Göhringer, Caroline, Bekeredjian, Raffi, Schinkel, Stefanie, Straub, Volker, Koenen, Michael, Weichenhan, Dieter, Katus, Hugo A, Müller, Oliver J

“…So far, the role of mutations in the δ-sarcogylcan (Sgcd) gene in causing autosomal dominant dilated cardiomyopathy (DCM) remains inconclusive. A p.S151A…”
Get full text

Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia by Geiger, Stephanie K., Bär, Harald, Ehlermann, Philipp, Wälde, Sarah, Rutschow, Désirée, Zeller, Raphael, Ivandic, Boris T., Zentgraf, Hanswalter, Katus, Hugo A., Herrmann, Harald, Weichenhan, Dieter

“…We have identified a family in which several members died of sudden cardiac death or suffer from dilated cardiomyopathy (DCM) and rhythm disturbances. Mutation…”
Get full text

Translation of HTT mRNA with expanded CAG repeats is regulated by the MID1–PP2A protein complex by Krauß, Sybille, Griesche, Nadine, Jastrzebska, Ewa, Chen, Changwei, Rutschow, Désiree, Achmüller, Clemens, Dorn, Stephanie, Boesch, Sylvia M., Lalowski, Maciej, Wanker, Erich, Schneider, Rainer, Schweiger, Susann

“…Expansion of CAG repeats is a common feature of various neurodegenerative disorders, including Huntington’s disease. Here we show that expanded CAG repeats…”
Get full text

S151A [delta]-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice by Rutschow, Désirée, Bauer, Ralf, Göhringer, Caroline, Bekeredjian, Raffi, Schinkel, Stefanie, Straub, Volker, Koenen, Michael, Weichenhan, Dieter, Katus, Hugo A, Müller, Oliver J

“…So far, the role of mutations in the δ-sarcogylcan (Sgcd) gene in causing autosomal dominant dilated cardiomyopathy (DCM) remains inconclusive. A p.S151A…”
Get full text

Centromeric association of chromosome 16- and 18-derived microchromosomes by FELBOR, Ute, RUTSCHOW, Désirée, HAAF, Thomas, SCHMID, Michael

“…A supernumerary C-band-positive microchromosome was observed in 88% of lymphocyte metaphases from a healthy 24-year-old female. Traditional cytogenetic…”
Get full text