Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Magdalena Radoš"'
Loss of Elp1 in cerebellar granule cell progenitors models ataxia phenotype of Familial Dysautonomia
Autor:
Frederik Arnskötter, Patricia Benites Goncalves da Silva, Mackenna E. Schouw, Chiara Lukasch, Luca Bianchini, Laura Sieber, Jesus Garcia-Lopez, Shiekh Tanveer Ahmad, Yiran Li, Hong Lin, Piyush Joshi, Lisa Spänig, Magdalena Radoš, Mykola Roiuk, Mari Sepp, Marc Zuckermann, Paul A. Northcott, Annarita Patrizi, Lena M. Kutscher
Publikováno v:
Neurobiology of Disease, Vol 199, Iss , Pp 106600- (2024)
Familial Dysautonomia (FD) is an autosomal recessive disorder caused by a splice site mutation in the gene ELP1, which disproportionally affects neurons. While classically characterized by deficits in sensory and autonomic neurons, neuronal defects i
Externí odkaz:
https://doaj.org/article/27595f3c5f8c4217868b4b0677549c70
Autor:
Ingrid M. Saldana-Guerrero, Luis F. Montano-Gutierrez, Katy Boswell, Christoph Hafemeister, Evon Poon, Lisa E. Shaw, Dylan Stavish, Rebecca A. Lea, Sara Wernig-Zorc, Eva Bozsaky, Irfete S. Fetahu, Peter Zoescher, Ulrike Pötschger, Marie Bernkopf, Andrea Wenninger-Weinzierl, Caterina Sturtzel, Celine Souilhol, Sophia Tarelli, Mohamed R. Shoeb, Polyxeni Bozatzi, Magdalena Rados, Maria Guarini, Michelle C. Buri, Wolfgang Weninger, Eva M. Putz, Miller Huang, Ruth Ladenstein, Peter W. Andrews, Ivana Barbaric, George D. Cresswell, Helen E. Bryant, Martin Distel, Louis Chesler, Sabine Taschner-Mandl, Matthias Farlik, Anestis Tsakiridis, Florian Halbritter
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-25 (2024)
Abstract Early childhood tumours arise from transformed embryonic cells, which often carry large copy number alterations (CNA). However, it remains unclear how CNAs contribute to embryonic tumourigenesis due to a lack of suitable models. Here we empl
Externí odkaz:
https://doaj.org/article/869f81138e26465185ec2a1246dd0cf6
Autor:
Irfete S. Fetahu, Wolfgang Esser-Skala, Rohit Dnyansagar, Samuel Sindelar, Fikret Rifatbegovic, Andrea Bileck, Lukas Skos, Eva Bozsaky, Daria Lazic, Lisa Shaw, Marcus Tötzl, Dora Tarlungeanu, Marie Bernkopf, Magdalena Rados, Wolfgang Weninger, Eleni M. Tomazou, Christoph Bock, Christopher Gerner, Ruth Ladenstein, Matthias Farlik, Nikolaus Fortelny, Sabine Taschner-Mandl
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)
Abstract Metastasis is the major cause of cancer-related deaths. Neuroblastoma (NB), a childhood tumor has been molecularly defined at the primary cancer site, however, the bone marrow (BM) as the metastatic niche of NB is poorly characterized. Here
Externí odkaz:
https://doaj.org/article/117133ab2f214dc88c7d58fa27ea3acd