IP Library › Granted Patent US 12,310,947
Granted Patent B2
US 12,310,947 · App. 17/625,604 · Granted May 27, 2025

Methods and compositions for unsilencing imprinted genes

Inventors: Benjamin D. Philpot (Durham, NC); Kiran Ramesh Bettadapur (Bengaluru, IN); Hyeong-Min Lee (Cordova, TN); Hanna Vihma (Chapel Hill, NC)
Assignee: The University of North Carolina at Chapel Hill
A61K31/4155A61K31/166A61K31/42A61P25/00
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Quick Facts
Patent No.
US 12,310,947
App. No.
17/625,604
Granted
May 27, 2025
Kind
B2
Abstract

The present invention provides methods and compositions for inducing expression of Ube3a in a cell and treating Angelman syndrome in a subject.

Claims (5)

1. A method of treating Angelman Syndrome in a human subject, comprising administering to the subject an effective amount of PHA533533 or a salt thereof, (R)-N-(5-cyclopropyl-1H-pyrazol-3-yl)-2-(4-(2-oxopyrrolidin-1-yl)phenyl) propenamide, (S)-N-(5-cyclopropyl-1H-pyrazol-3-yl)-2-(4-(2-oxooxazolidin-3-yl)phenyl) propenamide, and/or EPZ5676 in any combination, thereby treating Angelman syndrome in the subject.

2. The method of claim 1 , wherein the effective amount of PHA533533 or a salt thereof, (R)-N-(5-cyclopropyl-1H-pyrazol-3-yl)-2-(4-(2-oxopyrrolidin-1-yl)phenyl) propenamide, (S)-N-(5-cyclopropyl-1H-pyrazol-3-yl)-2-(4-(2-oxooxazolidin-3-yl)phenyl) propenamide, and/or EPZ5676 in any combination inhibits a target selected from the group consisting of CDK5, CDK2, DOTIL, ATXR5, CBP, CDK6, CDK8, CDK9, CDK16, CDKL3, EHMT1, EHMT2, KMT5C, SETD7, SMYD1, SMYD3, and any combination thereof.

3. The method of claim 1 , wherein the effective amount of PHA533533 or a salt thereof, (R)-N-(5-cyclopropyl-1H-pyrazol-3-yl)-2-(4-(2-oxopyrrolidin-1-yl)phenyl) propenamide, (S)-N-(5-cyclopropyl-1H-pyrazol-3-yl)-2-(4-(2-oxooxazolidin-3-yl)phenyl) propenamide, and/or EPZ5676 in any combination has an efficiency Emax of at least 1.25 fold over control.

4. The method of claim 1 , wherein the effective amount of PHA533533 or a salt thereof, (R)-N-(5-cyclopropyl-1H-pyrazol-3-yl)-2-(4-(2-oxopyrrolidin-1-yl)phenyl) propenamide, (S)-N-(5-cyclopropyl-1H-pyrazol-3-yl)-2-(4-(2-oxooxazolidin-3-yl)phenyl) propenamide, and/or EPZ5676 in any combination has an efficiency Emax of at least 2.5 fold over control.

5. The method of claim 1 , comprising an effective amount of PHA533533 or a salt thereof.

Continuity (2)
Provisional Application 62874777 · Jul 16, 2019
Related Publication 20220265607A1 · Aug 25, 2022
References Cited (13)
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