Academic Journal
An immune deficient mouse model for mucopolysaccharidosis IIIA (Sanfilippo syndrome)
| العنوان: | An immune deficient mouse model for mucopolysaccharidosis IIIA (Sanfilippo syndrome) |
|---|---|
| المؤلفون: | Kari Pollock, Sabrina Noritake, Denise M. Imai, Gabrielle Pastenkos, Marykate Olson, Whitney Cary, Sheng Yang, Fernando A. Fierro, Jeannine White, Justin Graham, Heather Dahlenburg, Karl Johe, Jan A. Nolta |
| المصدر: | Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023) |
| بيانات النشر: | Nature Portfolio, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Medicine LCC:Science |
| مصطلحات موضوعية: | Medicine, Science |
| الوصف: | Abstract Mucopolysaccharidosis III (MPSIII, Sanfilippo syndrome) is a devastating lysosomal storage disease that primarily affects the central nervous system. MPSIIIA is caused by loss-of-function mutations in the gene coding for sulfamidase (N-sulfoglucosamine sulfohydrolase/SGSH) resulting in SGSH enzyme deficiency, a buildup of heparin sulfate and subsequent neurodegeneration. There is currently no cure or disease modifying treatment for MPSIIIA. A mouse model for MPSIIIA was characterized in 1999 and later backcrossed onto the C57BL/6 background. In the present study, a novel immune deficient MPSIIIA mouse model (MPSIIIA-TKO) was created by backcrossing the immune competent, C57BL/6 MPSIIIA mouse to an immune deficient mouse model lacking Rag2, CD47 and Il2rg genes. The resulting mouse model has undetectable SGSH activity, exhibits histological changes consistent with MPSIIIA and lacks T cells, B cells and NK cells. This new mouse model has the potential to be extremely useful in testing human cellular therapies in an animal model as it retains the MPSIIIA disease phenotype while tolerating xenotransplantation. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2045-2322 |
| Relation: | https://doaj.org/toc/2045-2322 |
| DOI: | 10.1038/s41598-023-45178-0 |
| URL الوصول: | https://doaj.org/article/71342b495ee445a7a75611d2c25d3aa4 |
| رقم الانضمام: | edsdoj.71342b495ee445a7a75611d2c25d3aa4 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 20452322 |
|---|---|
| DOI: | 10.1038/s41598-023-45178-0 |