基本信息
浏览量:2
职业迁徙
个人简介
My Research
KEYWORDS
genetics of inherited diseases of the nervous system, neurogenetics, gene therapy, molecular mimicry
SUMMARY
A major focus of the Neurogenetics Laboratory is the study of the biochemical and molecular causes of inherited diseases and more effective means for their treatment. In the past few years, our laboratory has characterized a variety of novel mutations responsible for the GM2-gangliosidoses and globoid cell leukodystrophy. In vitro mutagenesis and transfection into COS cells allow us to clarify genotype: phenotype relationships in these and related lysosomal storage diseases and in animal models of these diseases. We are also involved in collaborations to investigate the gene loci for mucolipidosis IV and familial spastic paraparesis.
Gene therapy is being developed in our laboratory as a tool in the treatment of malignant brain tumor, Parkinson's disease and the lysosomal storage diseases. Glioma cells transduced with recombinant retroviruses expressing cytosine deaminase become sensitive to the prodrug 5-fluorocytosine and this effect is enhanced by interferons. Using this same suicide gene approach in combination with a vector, expressing both cytosine deaminase and thymidine kinase has enabled us to significantly prolong the survival of rats with rapidly growing intracerebral glioma. We also participate in a consortium devoted to the use of another form of gene therapy, bone marrow transplantation, to successfully treat globoid cell leukodystrophy.
Our work in lysosomal storage diseases has also led us to discover molecular mimicry between antiglycolipid antibodies found in various autoimmune diseases such as multiple sclerosis and certain proteins including p24 and gp120 of the HIV virus and various brain cell membrane components. The gene for one such protein, GCP, has been cloned and its structural relationship to the galactolipids is being investigated.
KEYWORDS
genetics of inherited diseases of the nervous system, neurogenetics, gene therapy, molecular mimicry
SUMMARY
A major focus of the Neurogenetics Laboratory is the study of the biochemical and molecular causes of inherited diseases and more effective means for their treatment. In the past few years, our laboratory has characterized a variety of novel mutations responsible for the GM2-gangliosidoses and globoid cell leukodystrophy. In vitro mutagenesis and transfection into COS cells allow us to clarify genotype: phenotype relationships in these and related lysosomal storage diseases and in animal models of these diseases. We are also involved in collaborations to investigate the gene loci for mucolipidosis IV and familial spastic paraparesis.
Gene therapy is being developed in our laboratory as a tool in the treatment of malignant brain tumor, Parkinson's disease and the lysosomal storage diseases. Glioma cells transduced with recombinant retroviruses expressing cytosine deaminase become sensitive to the prodrug 5-fluorocytosine and this effect is enhanced by interferons. Using this same suicide gene approach in combination with a vector, expressing both cytosine deaminase and thymidine kinase has enabled us to significantly prolong the survival of rats with rapidly growing intracerebral glioma. We also participate in a consortium devoted to the use of another form of gene therapy, bone marrow transplantation, to successfully treat globoid cell leukodystrophy.
Our work in lysosomal storage diseases has also led us to discover molecular mimicry between antiglycolipid antibodies found in various autoimmune diseases such as multiple sclerosis and certain proteins including p24 and gp120 of the HIV virus and various brain cell membrane components. The gene for one such protein, GCP, has been cloned and its structural relationship to the galactolipids is being investigated.
研究兴趣
论文共 38 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
Journal of Neurologyno. 2 (2015): 257-262
Strokeno. 1 (2015): 302-313
Christian Tanislav,Ulrike Grittner, Bjoern Misselwitz, Gerhard Jan Jungehuelsing,Christian Enzinger,Bettina von Sarnowski,Jukka Putaala,Manfred Kaps,Peter Kropp,Arndt Rolfs,Turgut Tatlisumak,Franz Fazekas,
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