دورية أكاديمية
أعرض في EDS

CRISPR/Cas9 technology in the modeling of and evaluation of possible treatments for Niemann-Pick C.

التفاصيل البيبلوغرافية
العنوان: CRISPR/Cas9 technology in the modeling of and evaluation of possible treatments for Niemann-Pick C.
المؤلفون: Reyhani-Ardabili M; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Fathi M; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Ghafouri-Fard S; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran. s.ghafourifard@sbmu.ac.ir.
المصدر: Molecular biology reports [Mol Biol Rep] 2024 Jul 20; Vol. 51 (1), pp. 828. Date of Electronic Publication: 2024 Jul 20.
نوع المنشور: Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Dordrecht, Boston, Reidel.
مواضيع طبية MeSH: CRISPR-Cas Systems*/genetics , Niemann-Pick Disease, Type C*/therapy , Niemann-Pick Disease, Type C*/genetics , Niemann-Pick Disease, Type C*/metabolism , Gene Editing*/methods , Genetic Therapy*/methods , Cholesterol*/metabolism, Humans ; Animals ; Niemann-Pick C1 Protein ; Disease Models, Animal
مستخلص: Niemann-Pick disease type C (NPC) is a rare neurodegenerative condition resulted from mutations in NPC1 and NPC2 genes. This cellular lipid transferring disorder mainly involves endocytosed cholesterol trafficking. The accumulation of cholesterol and glycolipids in late endosomes and lysosomes results in progressive neurodegeneration and death. Recently, genome editing technologies, particularly CRISPR/Cas9 have offered the opportunity to create disease models to screen novel therapeutic options for this disorder. Moreover, these methods have been used for the purpose of gene therapy. This review summarizes the studies that focused on the application of CRISPR/Cas9 technology for exploring the mechanism of intracellular cholesterol transferring, and screening of novel agents for treatment of NPC.
(© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)
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فهرسة مساهمة: Keywords: CRISPR/Cas; Mutation; Niemann-Pick C1
المشرفين على المادة: 97C5T2UQ7J (Cholesterol)
0 (Niemann-Pick C1 Protein)
تواريخ الأحداث: Date Created: 20240720 Date Completed: 20240720 Latest Revision: 20240720
رمز التحديث: 20240722
DOI: 10.1007/s11033-024-09801-1
PMID: 39033258
قاعدة البيانات: MEDLINE
الوصف
تدمد:1573-4978
DOI:10.1007/s11033-024-09801-1