کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
10832588 1065771 2016 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes
چکیده انگلیسی
We demonstrate for the first time the successful culture of PA patient-derived primary hepatocytes in a differentiated state, that stably retain the PCCA and PCCB enzyme defects at a gene and protein level. Phenotypic response of the system to an increased load of branched-chain amino acids, not possible with fibroblasts, underscores the utility of this system in the better understanding of the molecular pathophysiology of PA and examining the effectiveness of potential therapeutic agents in the most relevant tissue.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 117, Issue 3, March 2016, Pages 355-362
نویسندگان
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