Academic Journal
Generation of a novel disease model mouse for mucopolysaccharidosis type VI via c. 252T>C human ARSB mutation knock-in
| العنوان: | Generation of a novel disease model mouse for mucopolysaccharidosis type VI via c. 252T>C human ARSB mutation knock-in |
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| المؤلفون: | Kosuke Hosoba |
| المصدر: | Biochemistry and Biophysics Reports, Vol 31, Iss , Pp 101321- (2022) |
| بيانات النشر: | Elsevier, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Biology (General) LCC:Biochemistry |
| مصطلحات موضوعية: | Mucopolysaccharidosis type VI, Arylsulfatase B, CRISPR-Cas9 system, Disease model, Biology (General), QH301-705.5, Biochemistry, QD415-436 |
| الوصف: | Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by a mutation in the ARSB gene, which encodes arylsulfatase B (ARSB), and is characterized by glycosaminoglycan accumulation. Some pathogenic mutations have been identified in or near the substrate-binding pocket of ARSB, whereas many missense mutations present far from the substrate-binding pocket. Each MPS VI patient shows different severity of clinical symptoms. To understand the relationship between mutation patterns and the severity of MPS VI clinical symptoms, mutations located far from the substrate-binding pocket must be investigated using mutation knock-in mice. Here, I generated a knock-in mouse model of human ARSB Y85H mutation identified in Japanese MPS VI patients using a CRISPR-Cas9-mediated approach. The generated mouse model exhibited phenotypes similar to those of MPS VI patients, including facial features, mucopolysaccharide accumulation, and smaller body size, suggesting that this mouse will be a valuable model for understanding MPS VI pathology. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2405-5808 |
| Relation: | http://www.sciencedirect.com/science/article/pii/S2405580822001212; https://doaj.org/toc/2405-5808 |
| DOI: | 10.1016/j.bbrep.2022.101321 |
| URL الوصول: | https://doaj.org/article/da30ed2da09341a3af9b01a117961d4c |
| رقم الانضمام: | edsdoj.30ed2da09341a3af9b01a117961d4c |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 24055808 |
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| DOI: | 10.1016/j.bbrep.2022.101321 |