GNE as a therapeutic agent
OwnerDaniel Darvishinventor
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Abstract
The invention relates to composition and methods for expressing UDP-GlcNAc 2-Epimerase/ManNAc Kinase enzyme (GNE) in a living organism. In preferred embodiments, the invention relates to treating disease condition that involves use of therapeutically effective amount of a composition described herein.
Claims17
A method of treating GNE myopathy in a subject, the method comprising administering to the subject a pharmaceutical composition comprising a recombinant Adeno-associated virus (AAV) vector comprising a DNA molecule encoding GNE or a therapeutic fragment thereof,
- wherein the recombinant AAV vector has a capsid comprising amino acid residues corresponding to Asp-271, Asn-272, Tyr-446, Asn-470, and Trp-503 as described in SEQ ID NO:
- 18 and 19 as Asp-1 or 234, Asn-2 or 235, Tyr-176 or 409, Asn-200 or 433, and Trp-233 or 466, thereby directing entry of the AAV vector into cells of the subject without a need for sialic acid on the cells, and
- wherein the GNE or a therapeutic fragment thereof comprises at least one mutation or variation within an allosteric domain of GNE.
A pharmaceutical composition comprising a recombinant Adeno-associated virus (AAV) vector comprising a DNA molecule encoding GNE or a therapeutic fragment thereof,
- wherein the recombinant AAV vector has a capsid comprising amino acid residues corresponding to Asp-271, Asn-272, Tyr-446, Asn-470, and Trp-503 as described in SEQ ID NO:
- 18 and 19 as Asp-1 or 234, Asn-2 or 235, Tyr-176 or 409, Asn-200 or 433, and Trp-233 or 466, thereby directing entry of the AAV vector into cells of the subject by forming a molecular pocket comprising required amino acid residues for binding to galactose on the cells, and
- wherein the GNE or a therapeutic fragment thereof comprises at least one mutation or variation within an allosteric domain of GNE.
A pharmaceutical composition comprising at least one DNA molecule described by SEQ ID NO:
- 1 or 2.
Dependencies are inferred from the claim text.