基本信息
浏览量:4
职业迁徙
个人简介
Description of Research
In collaboration with others, a series of metabolic diseases caused by deficient enzyme activities are being studied, including mucopolysaccharidoses (MPS) I, VI, and VII (alpha-L-iduronidase, 4-sulfatase, and ß-glucuronidase deficiencies, respectively), alpha mannosidosis (alpha-mannosidase deficiency), I-cell disease (N-acetylglucosamine-1-phosphotransferase), Krabbe disease (galactosylceramidase), and acute intermittent porphyria (PBG-deaminase deficiency). Five of these diseases are lysosomal storage disorders with clinical phenotypes in the animals that are the same as in affected children. Experiments include administering recombinant human alpha-L-iduronidase intravenously to cats with MPS I and gene therapy using retroviral and AAV vectors. The gene therapy experiments are being performed in MPS I cats and dogs, MPS VI cats, and MPS VII dogs using the species-specific cDNAs except feline MPS I. The somatic cell gene therapy experiments include a) intraocular injections of AAV-4-sulfatase vector virus in MPS VI cats, b) neonatal intravenous retrovirus gene therapy in MPS I and VI cats, MPS I dogs, and MPS VII dogs, and c) intramuscular AAV vectors containing the feline 4S cDNA and human SUMF-1 cDNA.
研究兴趣
论文共 168 篇作者统计合作学者相似作者
按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
Bone (2019): 115042-115042
Molecular genetics and metabolismno. SUPnan (2017): 25-34
加载更多
作者统计
合作学者
合作机构
D-Core
- 合作者
- 学生
- 导师
数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn