Search Results - "Alizoti, Erda"

Generation of a homozygous CRYAB p.Arg120Gly mutant (UKEi001-A-1) from a human iPSC line by Pietsch, Niels, Cheng, Jiancheng, Fazio, Antonietta, Ewald, Leonie, Alizoti, Erda, Krämer, Elisabeth, Orthey, Ellen, Carrier, Lucie, Singh, Sonia R

“…Variants in CRYAB can lead to desmin-related (cardio-)myopathy (DRM), a genetic muscle disorder with no curative treatment available. We introduced a…”
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ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes by Zech, Antonia T. L., Prondzynski, Maksymilian, Singh, Sonia R., Pietsch, Niels, Orthey, Ellen, Alizoti, Erda, Busch, Josefine, Madsen, Alexandra, Behrens, Charlotta S., Meyer-Jens, Moritz, Mearini, Giulia, Lemoine, Marc D., Krämer, Elisabeth, Mosqueira, Diogo, Virdi, Sanamjeet, Indenbirken, Daniela, Depke, Maren, Salazar, Manuela Gesell, Völker, Uwe, Braren, Ingke, Pu, William T., Eschenhagen, Thomas, Hammer, Elke, Schlossarek, Saskia, Carrier, Lucie

“…Genetic variants in α-actinin-2 (ACTN2) are associated with several forms of (cardio)myopathy. We previously reported a heterozygous missense (c.740C>T) ACTN2…”
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JAK1 Inhibitors reduce CRYABR120G aggregates in rat and human cardiomyocytes by Alizoti, Erda, Michler, Lysa, Orthey, Ellen, Osinska, Hanna, Gulick, James, Klampe, Birgit, Schulze, Thomas, Hansen, Arne, Schlossarek, Saskia, Carrier, Lucy, McLendon, Patrick, Robbins, Jeffrey, Singh, Sonia

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A high-throughput screening identifies ZNF418 as a novel regulator of the ubiquitin-proteasome system and autophagy-lysosomal pathway by Singh, Sonia R, Meyer-Jens, Moritz, Alizoti, Erda, Bacon, W Clark, Davis, Gregory, Osinska, Hanna, Gulick, James, Reischmann-Düsener, Silke, Orthey, Ellen, McLendon, Patrick M, Molkentin, Jeffery D, Schlossarek, Saskia, Robbins, Jeffrey, Carrier, Lucie

“…The ubiquitin-proteasome system (UPS) and autophagy-lysosomal pathway (ALP) are two major protein degradation pathways in eukaryotic cells. Initially…”
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IACTN2/I Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes by Zech, Antonia T. L, Prondzynski, Maksymilian, Singh, Sonia R, Pietsch, Niels, Orthey, Ellen, Alizoti, Erda, Busch, Josefine, Madsen, Alexandra, Behrens, Charlotta S, Meyer-Jens, Moritz, Mearini, Giulia, Lemoine, Marc D, Krämer, Elisabeth, Mosqueira, Diogo, Virdi, Sanamjeet, Indenbirken, Daniela, Depke, Maren, Salazar, Manuela Gesell, Völker, Uwe, Braren, Ingke, Pu, William T, Eschenhagen, Thomas, Hammer, Elke, Schlossarek, Saskia, Carrier, Lucie

“…Genetic variants in α-actinin-2 (ACTN2) are associated with several forms of (cardio)myopathy. We previously reported a heterozygous missense (c.740C>T) ACTN2…”
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