دورية أكاديمية
Modeling congenital adrenal hyperplasia and testing interventions for adrenal insufficiency using donor-specific reprogrammed cells.
| العنوان: | Modeling congenital adrenal hyperplasia and testing interventions for adrenal insufficiency using donor-specific reprogrammed cells. |
|---|---|
| المؤلفون: | Ruiz-Babot, G., Balyura, M., Hadjidemetriou, I., Ajodha, S.J., Taylor, D.R., Ghataore, L., Taylor, N.F., Schubert, U., Ziegler, C.G., Storr, H.L., Druce, M.R., Gevers, E.F., Drake, W.M., Srirangalingam, U., Conway, G.S., King, P.J., Metherell, L.A., Bornstein, S.R., Guasti, L. |
| المصدر: | Cell Rep. 22, 1236-1249 (2018) |
| بيانات النشر: | Cell Press |
| سنة النشر: | 2018 |
| المجموعة: | PuSH - Publikationsserver des Helmholtz Zentrums München |
| مصطلحات موضوعية: | Nr5a1, Adrenal Cortex, Adrenal Insufficiency, Congenital Adrenal Hyperplasia, Disease Modeling, Reprogramming, Steroidogenic Cells, Steroidogenic Factor 1, Transplantation, Urine-derived Stem Cells |
| الوصف: | Adrenal insufficiency is managed by hormone replacement therapy, which is far from optimal; the ability to generate functional steroidogenic cells would offer a unique opportunity for a curative approach to restoring the complex feedback regulation of the hypothalamic-pituitary-adrenal axis. Here, we generated human induced steroidogenic cells (hiSCs) from fibroblasts, blood-, and urine-derived cells through forced expression of steroidogenic factor-1 and activation of the PKA and LHRH pathways. hiSCs had ultrastructural features resembling steroid-secreting cells, expressed steroidogenic enzymes, and secreted steroid hormones in response to stimuli. hiSCs were viable when transplanted into the mouse kidney capsule and intra-adrenal. Importantly, the hypocortisolism of hiSCs derived from patients with adrenal insufficiency due to congenital adrenal hyperplasia was rescued by expressing the wild-type version of the defective disease-causing enzymes. Our study provides an effective tool with many potential applications for studying adrenal pathobiology in a personalized manner and opens venues for the development of precision therapies. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2211-1247 |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/29386111; info:eu-repo/semantics/altIdentifier/wos/WOS:000423898500013; info:eu-repo/semantics/altIdentifier/isbn/2211-1247; info:eu-repo/semanti; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52861Test; urn:isbn:2211-1247; urn:issn:2211-1247 |
| DOI: | 10.1016/j.celrep.2018.01.003 |
| الإتاحة: | https://doi.org/10.1016/j.celrep.2018.01.003Test https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52861Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.B60AB760 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 22111247 |
|---|---|
| DOI: | 10.1016/j.celrep.2018.01.003 |