Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Antonia T L, Zech"'
Autor:
Antonia T. L. Zech, Maksymilian Prondzynski, Sonia R. Singh, Niels Pietsch, Ellen Orthey, Erda Alizoti, Josefine Busch, Alexandra Madsen, Charlotta S. Behrens, Moritz Meyer-Jens, Giulia Mearini, Marc D. Lemoine, Elisabeth Krämer, Diogo Mosqueira, Sanamjeet Virdi, Daniela Indenbirken, Maren Depke, Manuela Gesell Salazar, Uwe Völker, Ingke Braren, William T. Pu, Thomas Eschenhagen, Elke Hammer, Saskia Schlossarek, Lucie Carrier
Publikováno v:
Cells, Vol 11, Iss 17, p 2745 (2022)
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 gene variant, associated with hypertrophic cardiomyopathy, and characterized by an electro
Externí odkaz:
https://doaj.org/article/109fa3ab16674cf981367758f4aa3eb1
Autor:
James W. McNamara, Benjamin L. Parker, Holly K. Voges, Neda R. Mehdiabadi, Francesca Bolk, Feroz Ahmad, Jin D. Chung, Natalie Charitakis, Jeffrey Molendijk, Antonia T. L. Zech, Sean Lal, Mirana Ramialison, Kathy Karavendzas, Hayley L. Pointer, Petros Syrris, Luis R. Lopes, Perry M. Elliott, Gordon S. Lynch, Richard J. Mills, James E. Hudson, Kevin I. Watt, Enzo R. Porrello, David A. Elliott
Publikováno v:
Nature Cardiovascular Research. 2:159-173
Muscle contraction is driven by the molecular machinery of the sarcomere. As phosphorylation is a critical regulator of muscle function, the identification of regulatory kinases is important for understanding sarcomere biology. Pathogenic variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc2ed3835a2586dc599872e642de7334
https://doi.org/10.1038/s44161-023-00219-9
https://doi.org/10.1038/s44161-023-00219-9
Autor:
András Horváth, Torsten Christ, Jussi T. Koivumäki, Maksymilian Prondzynski, Antonia T. L. Zech, Michael Spohn, Umber Saleem, Ingra Mannhardt, Bärbel Ulmer, Evaldas Girdauskas, Christian Meyer, Arne Hansen, Thomas Eschenhagen, Marc D. Lemoine
Publikováno v:
Cells, Vol 9, Iss 1, p 253 (2020)
Human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) represent an unlimited source of human CMs that could be a standard tool in drug research. However, there is concern whether hiPSC-CMs express all cardiac ion channels at physiolo
Externí odkaz:
https://doaj.org/article/3763edddbe7747caaa9a423b5f025cfe
Autor:
Antonia T. L. Zech, Maksymilian Prondzynski, Sonia R. Singh, Ellen Orthey, Erda Alizoti, Josefine Busch, Alexandra Madsen, Charlotta S. Behrens, Giulia Mearini, Marc D. Lemoine, Elisabeth Krämer, Diogo Mosqueira, Sanamjeet Virdi, Daniela Indenbirken, Maren Depke, Manuela Gesell Salazar, Uwe Völker, Ingke Braren, William T. Pu, Thomas Eschenhagen, Elke Hammer, Saskia Schlossarek, Lucie Carrier
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 gene variant, associated with hypertrophic cardiomyopathy, and characterized by an electro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4de4d821144b4a5d36d21f3d0d284ec
https://doi.org/10.1101/2021.10.28.466251
https://doi.org/10.1101/2021.10.28.466251
Autor:
Sonia R, Singh, Antonia T L, Zech, Birgit, Geertz, Silke, Reischmann-Düsener, Hanna, Osinska, Maksymilian, Prondzynski, Elisabeth, Krämer, Qinghang, Meng, Charles, Redwood, Jolanda, van der Velden, Jeffrey, Robbins, Saskia, Schlossarek, Lucie, Carrier
Publikováno v:
Circulation. Heart failure. 10(10)
Alterations in autophagy have been reported in hypertrophic cardiomyopathy (HCM) caused by Danon disease, Vici syndrome, or LEOPARD syndrome, but not in HCM caused by mutations in genes encoding sarcomeric proteins, which account for most of HCM case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::23ca88400ae6965d98660dffe83234a1
https://pubmed.ncbi.nlm.nih.gov/29021349
https://pubmed.ncbi.nlm.nih.gov/29021349