Expression and function of the urea cycle in widely‐used hepatic cellular models

• Published in: Journal of inherited metabolic disease Vol. 47; no. 6; pp. 1228 - 1238
• Main Authors: Makris, Georgios, Veit, Lara, Rüfenacht, Véronique, Klassa, Sven, Zürcher, Nadia, Matsumoto, Shirou, Poms, Martin, Häberle, Johannes
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.11.2024; Blackwell Publishing Ltd
• Subjects: Animal models; Animal welfare; Arginase; Arginase - metabolism; Cell Differentiation; Cell lines; Cognition; Complications; enzyme expression; Hep G2 Cells; HepaRG cells; hepatic cellular models; Hepatocytes; Hepatocytes - metabolism; Hepatoma; Humans; Immunoblotting; Immunocytochemistry; Induced Pluripotent Stem Cells - metabolism; Liver - metabolism; Liver cancer; Liver diseases; Liver transplantation; Molecular modelling; Ornithine; Pluripotency; stable isotope quantification; Urea; Urea - metabolism; urea cycle; Urea Cycle Disorders, Inborn - metabolism; ureagenesis; enzyme expression; hepatic cellular models; stable isotope quantification; ureagenesis; urea cycle; HepaRG cells
• ISSN: 0141-8955; 1573-2665; 1573-2665
• DOI: 10.1002/jimd.12701

The group of rare metabolic defects termed urea cycle disorders (UCDs) occur within the ammonia elimination pathway and lead to significant neurocognitive sequelae for patients surviving decompensation episodes. Besides orthotopic liver transplantation, curative options are lacking for UCDs, with di...