Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes

Propionic acidemia (PA) is a disorder of intermediary metabolism with defects in the alpha or beta subunits of propionyl CoA carboxylase (PCCA and PCCB respectively) enzyme. We previously described a liver culture system that uses liver-derived hemodynamic blood flow and transport parameters to rest...

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Veröffentlicht in:	Molecular genetics and metabolism Jg. 117; H. 3; S. 355 - 362
Hauptverfasser:	Chapman, Kimberly A., Collado, Maria S., Figler, Robert A., Hoang, Stephen A., Armstrong, Allison J., Cui, Wanxing, Purdy, Michael, Simmers, Michael B., Yazigi, Nada A., Summar, Marshall L., Wamhoff, Brian R., Dash, Ajit
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	United States Elsevier Inc 01.03.2016
Schlagworte:	Actins - analysis Amino Acids, Branched-Chain - metabolism Ammonia Ammonia - metabolism Carbon-Carbon Ligases - genetics Carbon-Carbon Ligases - metabolism Cells, Cultured Child Fibroblasts - drug effects Fibroblasts - metabolism Hemodynamic flow Hemodynamics Hepatocyte Hepatocytes - cytology Hepatocytes - drug effects Hepatocytes - enzymology Hepatocytes - metabolism Humans Isoleucine - pharmacology Liver - enzymology Liver - metabolism Liver - pathology Methylmalonyl-CoA Decarboxylase - genetics Methylmalonyl-CoA Decarboxylase - metabolism Mutation Organic acidemia Propionic acidemia Propionic Acidemia - metabolism Urea Urea - metabolism Valine - pharmacology Ammonia Urea Organic acidemia Hepatocyte Propionic acidemia Hemodynamic flow
ISSN:	1096-7192, 1096-7206, 1096-7206
Online-Zugang:	Volltext
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