Patent ID: 8603814
Filing Date: 2013-12-10
Classification: A61K,A61P

Abstract:
1. A method of determining a presence of a nonsense mutation in a protein of a patient, the method comprising: a. obtaining a cell sample from the patient, wherein said cell sample comprises cells expressing mRNA-containing premature stop codon; b. culturing said sample in the presence of an inhibitor of eIF5A to generate mRNA encoding said protein; c. extracting mRNA; d. obtaining complementary DNA (cDNA) from the mRNA encoding said protein; and e. analyzing the sequence of said cDNA, wherein said inhibitor is selected from the group consisting of: a. compound of formula (I): wherein R wherein R R A-B is —CH c) a compound of formula (III) or (IV); wherein R 1 , R 2 , R 3 , and R 4 each individually represent a hydrogen, an alkyl, alkenyl, or alkoxy group containing 1 to about 8 carbon atoms, an aryl, arylaklyl, or cycloalkyl group containing about 5 to 12 carbon atoms, or a peptide or peptidomimetic moiety containing 10 to about 30 carbon atoms.