Functional Variant of Lymphoid Tyrosine Phosphatase is Associated with Autoimmune Disorders
申请(专利)号:
US11571711
申请日期:
20050711
公开/公告号:
US20080199514A1
公开/公告日期:
20080821
申请(专利权)人:
Tomas Mikael Mustelin Nunzio Bottini
被引量:
摘要:
The invention is the discovery of a single nucleotide polymorphism in the gene coding for lymphoid tyrosine phosphatase. This SNP leads to a mutation in the lymphoid tyrosine phosphatase protein that prohibits binding with the SH3 domain of Csk, and leads to a subsequent dysregulation of the T-Cell activation cascade. Such dysregulation can lead to a variety of autoimmune disorders. Thus, the invention provides a series of useful methods for diagnosing, discovering modulators, developing treatments and providing research tools. Also, the invention provides compositions of matter useful for research and useful for the diagnosis and treatment of these disorders.
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