التفاصيل البيبلوغرافية
| العنوان: |
Development and Characterization of a Factor V-Deficient CRISPR Cell Model for the Correction of Mutations |
| المؤلفون: |
Luis Javier Serrano, Mariano Garcia-Arranz, Juan A. De Pablo-Moreno, José Carlos Segovia, Rocío Olivera-Salazar, Damián Garcia-Olmo, Antonio Liras |
| المصدر: |
International Journal of Molecular Sciences; Volume 23; Issue 10; Pages: 5802 |
| بيانات النشر: |
Multidisciplinary Digital Publishing Institute |
| سنة النشر: |
2022 |
| المجموعة: |
MDPI Open Access Publishing |
| مصطلحات موضوعية: |
gene therapy, gene editing, CRISPR, factor V deficiency, coagulopathies, rare diseases |
| جغرافية الموضوع: |
agris |
| الوصف: |
Factor V deficiency, an ultra-rare congenital coagulopathy, is characterized by bleeding episodes that may be more or less intense as a function of the levels of coagulation factor activity present in plasma. Fresh-frozen plasma, often used to treat patients with factor V deficiency, is a scarcely effective palliative therapy with no specificity to the disease. CRISPR/Cas9-mediated gene editing, following precise deletion by non-homologous end-joining, has proven to be highly effective for modeling on a HepG2 cell line a mutation similar to the one detected in the factor V-deficient patient analyzed in this study, thus simulating the pathological phenotype. Additional CRISPR/Cas9-driven non-homologous end-joining precision deletion steps allowed correction of 41% of the factor V gene mutated cells, giving rise to a newly developed functional protein. Taking into account the plasma concentrations corresponding to the different levels of severity of factor V deficiency, it may be argued that the correction achieved in this study could, in ideal conditions, be sufficient to turn a severe phenotype into a mild or asymptomatic one. |
| نوع الوثيقة: |
text |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| Relation: |
Molecular Biology; https://dx.doi.org/10.3390/ijms23105802 |
| DOI: |
10.3390/ijms23105802 |
| الاتاحة: |
https://doi.org/10.3390/ijms23105802 |
| Rights: |
https://creativecommons.org/licenses/by/4.0/ |
| رقم الانضمام: |
edsbas.998810E |
| قاعدة البيانات: |
BASE |