N-acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and function

Deleterious variants in N-acetylneuraminate pyruvate lyase (NPL) cause skeletal myopathy and cardiac edema in humans and zebrafish, but its physiological role remains unknown. We report generation of mouse models of the disease: Npl(R63C), carrying the human p.Arg63Cys variant, and Npl(del116) with...

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Detalles Bibliográficos
Autores principales: Da Silva, Afitz, Dort, Junio, Orfi, Zakaria, Pan, Xuefang, Huang, Sjanie, Kho, Ikhui, Heckel, Emilie, Muscarnera, Giacomo, van Vliet, Patrick Piet, Sturiale, Luisa, Messina, Angela, Romeo, Donata Agata, van Karnebeek, Clara D.M., Wen, Xiao-Yan, Hinek, Aleksander, Molina, Thomas, Andelfinger, Gregor, Ellezam, Benjamin, Yamanaka, Yojiro, Olivos, Hernando J., Morales, Carlos R., Joyal, Jean-Sébastien, Lefeber, Dirk J., Garozzo, Domenico, Dumont, Nicolas A., Pshezhetsky, Alexey V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2023
Materias:
Biomedicine and Life Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10313170/
https://www.ncbi.nlm.nih.gov/pubmed/37390204
http://dx.doi.org/10.1126/sciadv.ade6308

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