دورية أكاديمية
Citrin-deficient patient-derived induced pluripotent stem cells as a pathological liver model for congenital urea cycle disorders
| العنوان: | Citrin-deficient patient-derived induced pluripotent stem cells as a pathological liver model for congenital urea cycle disorders |
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| المؤلفون: | Mai Okano, Masahiro Yasuda, Yui Shimomura, Yoshikazu Matsuoka, Yasumasa Shirouzu, Tatsuya Fujioka, Masatoshi Kyo, Shoji Tsuji, Kazunari Kaneko, Hirofumi Hitomi |
| المصدر: | Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101096- (2024) |
| بيانات النشر: | Elsevier, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Medicine (General) LCC:Biology (General) |
| مصطلحات موضوعية: | Induced pluripotent stem cells, Citrin deficiency, Urea cycle disorder, Ammonia, Sodium pyruvate, Medicine (General), R5-920, Biology (General), QH301-705.5 |
| الوصف: | Citrin deficiency is a congenital secondary urea cycle disorder lacking useful disease models for effective treatment development. In this study, human induced pluripotent stem cells (iPSCs) were generated from two patients with citrin deficiency and differentiated into hepatocyte-like cells (HLCs). Citrin-deficient HLCs produced albumin and liver-specific markers but completely lacked citrin protein and expressed argininosuccinate synthase only weakly. In addition, ammonia concentrations in a medium cultured with citrin-deficient HLCs were higher than with control HLCs. Sodium pyruvate administration significantly reduced ammonia concentrations in the medium of citrin-deficient HLCs and slightly reduced ammonia in HLCs differentiated from control iPSCs, though this change was not significant. Our results suggest that sodium pyruvate may be an efficient treatment for patients with citrin deficiency. Citrin-deficient iPSCs are a pathological liver model for congenital urea cycle disorders to clarify pathogenesis and develop novel therapies. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2214-4269 |
| Relation: | http://www.sciencedirect.com/science/article/pii/S2214426924000491; https://doaj.org/toc/2214-4269 |
| DOI: | 10.1016/j.ymgmr.2024.101096 |
| URL الوصول: | https://doaj.org/article/f8d08f606ce54fac965a4584293e616a |
| رقم الأكسشن: | edsdoj.f8d08f606ce54fac965a4584293e616a |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 22144269 |
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| DOI: | 10.1016/j.ymgmr.2024.101096 |