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Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome

Summary: Noonan syndrome patients harboring causative variants in LZTR1 are particularly at risk to develop severe and early-onset hypertrophic cardiomyopathy. In this study, we investigate the mechanistic consequences of a homozygous variant LZTR1L580P by using patient-specific and CRISPR-Cas9-corr...

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Guardat en:
Autors principals: Alexandra Viktoria Busley, Óscar Gutiérrez-Gutiérrez, Elke Hammer, Fabian Koitka, Amin Mirzaiebadizi, Martin Steinegger, Constantin Pape, Linda Böhmer, Henning Schroeder, Mandy Kleinsorge, Melanie Engler, Ion Cristian Cirstea, Lothar Gremer, Dieter Willbold, Janine Altmüller, Felix Marbach, Gerd Hasenfuss, Wolfram-Hubertus Zimmermann, Mohammad Reza Ahmadian, Bernd Wollnik, Lukas Cyganek
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2024-07-01
Col·lecció:Cell Reports
Matèries:
CP: Cell biology
CP: Metabolism
Accés en línia:http://www.sciencedirect.com/science/article/pii/S2211124724007770
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