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Quantitative Lipid Profiling Reveals Major Differences between Liver Organoids with Normal Pi*M and Deficient Pi*Z Variants of Alpha-1-antitrypsin

Different mutations in the SERPINA1 gene result in alpha-1 antitrypsin (AAT) deficiency and in an increased risk for the development of liver diseases. More than 90% of severe deficiency patients are homozygous for Z (Glu342Lys) mutation. This mutation causes Z-AAT polymerization and intrahepatic ac...

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Detalles Bibliográficos
Autores principales: Pérez-Luz, Sara, Lalchandani, Jaanam, Matamala, Nerea, Barrero, Maria Jose, Gil-Martín, Sara, Saz, Sheila Ramos-Del, Varona, Sarai, Monzón, Sara, Cuesta, Isabel, Justo, Iago, Marcacuzco, Alberto, Hierro, Loreto, Garfia, Cristina, Gomez-Mariano, Gema, Janciauskiene, Sabina, Martínez-Delgado, Beatriz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419530/
https://www.ncbi.nlm.nih.gov/pubmed/37569847
http://dx.doi.org/10.3390/ijms241512472

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