Invention Grant
- Patent Title: Nucleic acids, methods and kits for the diagnosis of DYT6 primary torsion dystonia
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Application No.: US15072686Application Date: 2016-03-17
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Publication No.: US10167510B2Publication Date: 2019-01-01
- Inventor: Laurie Ozelius , Susan Bressman
- Applicant: Icahn School of Medicine of Mount Sinai
- Applicant Address: US NY New York
- Assignee: Icahn School of Medicine at Mount Sinai
- Current Assignee: Icahn School of Medicine at Mount Sinai
- Current Assignee Address: US NY New York
- Agency: Fish & Richardson P.C.
- Main IPC: C07H21/04
- IPC: C07H21/04 ; C12Q1/6883 ; C07K14/47
Abstract:
The invention relates generally to the THAP1 gene and mutations in this gene, as well as the THAP1 protein and mutations in this protein, that are associated with dystonia. The invention relates to the identification, isolation, cloning and characterization of the DNA sequence corresponding to the wild type and mutant THAP1 genes, as well as isolation and characterization of their transcripts and gene products. The invention further relates to methods and kits useful for detecting mutations in THAP1 that are associated with dystonia, as well as to methods and kits useful for diagnosing dystonia. The present invention also relates to therapies for treating dystonia, including gene therapeutics and protein/antibody based therapeutics.
Public/Granted literature
- US20160222454A1 Nucleic Acids, Methods and Kits for the Diagnosis of DYT6 Primary Torsion Dystonia Public/Granted day:2016-08-04
Information query
