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

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 <i>SERPINA1</i> 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...

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Bibliographic Details
Main Authors: Sara Pérez-Luz, Jaanam Lalchandani, Nerea Matamala, Maria Jose Barrero, Sara Gil-Martín, Sheila Ramos-Del Saz, Sarai Varona, Sara Monzón, Isabel Cuesta, Iago Justo, Alberto Marcacuzco, Loreto Hierro, Cristina Garfia, Gema Gomez-Mariano, Sabina Janciauskiene, Beatriz Martínez-Delgado
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:International Journal of Molecular Sciences
Subjects:
alpha-1 antitrypsin deficiency (AATD)
alpha-1 antitrypsin (AAT)
liver organoids
AAT aggregates
lipid accumulation
Online Access:https://www.mdpi.com/1422-0067/24/15/12472

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https://www.mdpi.com/1422-0067/24/15/12472

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