Correction of genetic defects using chemical chaperones
AssigneeThe Regents of the University of California
InventorsWilliam J. Welch, C. Randell Brown, Jörg Tatzelt
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Abstract
A method of improving a phenotypic defect in a cell that contains a conformationally defective target protein wherein the conformational defect causes the phenotype defect, comprising contacting a first cell that expresses said confonnationally defective target protein with an amount of a protein stabilizing agent that is effective to improve the conformational defect, thereby improving the phenotypic defect of the first cell in comparison with a second cell having the same conformationally defective target protein and phenotypic defect, wherein the second cell is not contacted with the protein stabilizing agent.
Claims22
A method of improving a phenotypic defect in a cell that contains a conformationally defective target protein wherein the conformational defect causes the phenotype defect, comprising contacting a first cell that expresses said conformationally defective target protein with an amount of a protein stabilizing agent that is effective to improve the conformational defect, thereby improving the phenotypic defect of the first cell in comparison with a second cell having the same conformationally defective target protein and phenotypic defect, wherein the second cell is not contacted with a protein stabilizing agent;
- wherein Congo Red is not the protein stabilizing agent.
A screening method for detecting a phenotypically defective cell whose phenotypic defect is due to the presence of a conformationally defective target protein, comprising the steps of
- contacting a test cell having a phenotypic defect with a protein stabilizing agent, and
- determining whether such contact is effective to improve the phenotypic defect of the cell.
A method of detecting the relative proportions of PrPC and PrPSc present in a composition, comprising:
- mixing a composition that comprises prion proteins with a solution wherein either PrPC or PrPSc is insoluble;
- separating soluble PrP from the insoluble PrP;
- and
- determining the relative amounts of soluble and insoluble PrP.
A protein stabilizing agent to improve a phenotypic defect in a cell that contains a conformationally defective target protein wherein the conformational defect causes the phenotype defect, wherein the protein stabilizing agent is selected from the group consisting of dimethylsulfoxide (DMSO), deuterated water, polyols;
- and amino acids and derivatives thereof, comprising contacting a first cell that expresses said conformationally defective target protein with an amount of a protein stabilizing agent that is effective to improve the conformational defect thereby improving the phenotypic defect of the first cell in comparison with a second cell having the same conformationally defective target protein and phenotypic defect, wherein the second cell is not contacted with a protein stabilizing agent;
- wherein Congo Red is not the protein stabilizing agent.
Dependencies are inferred from the claim text.