Recombinant Dgkk gene for fragile X syndrome gene therapy
AssigneesUniversite De Strasbourg, Centre National De La Recherche Scientifique, Institut National de la Sante et de la Recherche Medicale
InventorsHervé Moine, Ricardos Tabet
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Abstract
The present invention relates to a nucleic acid coding for a human DGKk protein lacking a functional Proline Rich Region and/or a functional EPAPE repeated Region, and to its use in the treatment of fragile X syndrome in a patient in need thereof.
Claims13
A pharmaceutical composition comprising a nucleic acid encoding a human DGKk (Diacylglycerol Kinase kappa) protein that catalyzes the phosphorylation of diacylglycerol and lacks a functional Proline Rich Region and/or a functional EPAPE repeated Region, wherein the nucleic acid has the sequence of SEQ ID NO:
- 1 and comprises a deletion of a sequence selected from the group consisting of positions 70-132 of SEQ ID NO:
- 1, positions 142-539 of SEQ ID NO:
- 1, positions 70-132 and 142-539 of SEQ ID NO:
- 1, and positions 4-539 of SEQ ID NO:
- 1.
A pharmaceutical composition comprising a nucleic acid encoding a human DGKk (Diacyclglycerol Kinase kappa) protein that catalyzes the phosphorylation of diacylglycerol and lacks a functional Proline Rich Region and/or a functional EPAPE repeated Region, wherein the nucleic acid has at least 85% identity with SEQ ID NO:
- 1 and further comprises a deletion of a sequence selected from the group consisting of positions 70-132 of SEQ ID NO:1, positions 142-539 of SEQ ID NO:
- 1, positions 70-132 and 142-539 of SEQ ID NO:
- 1, and positions 4-539 of SEQ ID NO:
- 1, and wherein said nucleic acid encodes a human DGKk protein comprising a Pleckstrin homology domain comprising amino acids 216 to 309 of SEQ ID NO:
- 9 and a catalytic domain comprising amino acids 487-622 of SEQ ID NO:
- 9.
Dependencies are inferred from the claim text.