Vijayalakshmi Gabbeta

US Patent:

20230047208, Feb 16, 2023

Filed:

Jan 4, 2021

Appl. No.:

17/790328

Inventors:

- Boston MA, US
- South Plainfield NJ, US
Michael E. Talkowski - Lexington MA, US
Susan A. Slaugenhaupt - Hull MA, US
Wencheng Li - Martinsville NJ, US
Kerstin Annemarie Effenberger - Metuchen NJ, US
Christopher Robert Trotta - Somerset NJ, US
Yong Yu - Westfield NJ, US
Vijayalakshmi Gabbeta - Bridgewater NJ, US
Amal Dakka - Whitehouse Station NJ, US
Nikolai A. Naryshkin - East Brunswick NJ, US

International Classification:

A61K 31/519

Abstract:

One aspect described herein is use of a compound to modulate the production of one or more mature RNA isoforms from a gene transcript in a cell. Another aspect described herein is use of a compound in a method to modulate exon inclusion or exon exclusion in one or more mature mRNA isoforms from a gene transcript in a cell.

US Patent:

20200370043, Nov 26, 2020

Filed:

Jun 13, 2018

Appl. No.:

16/622223

Inventors:

- South Plainfield NJ, US
Amal DAKKA - Whitehouse Station NJ, US
Kerstin EFFENBERGER - Metuchen NJ, US
Vijayalakshmi GABBETA - Bridgewater NJ, US
Minakshi B. JANI - Iselin NJ, US
Wencheng LI - Martinsville NJ, US
Nikolai NARYSHKIN - East Brunswick NJ, US
Christopher TROTTA - Somerset NJ, US
Kari WIEDINGER - New Providence NJ, US

Assignee:

PTC THERAPEUTICS, INC. - South Plainfield NJ

International Classification:

C12N 15/11
C07D 417/02
C07D 417/14
C07D 401/02
C07D 401/14

Abstract:

Described herein is an intronic recognition element for splicing modifier (iREMS) that can be recognized by a small en molecule splicing modifier compound of Formula (I) provided herein or a form thereof, wherein W, X, A and B are as defined herein. In one aspect, methods for modifying RNA splicing to modulate the amount of a product of a gene, wherein a precursor RNA transcript transcribed from the gene that contains an intronic REMS is modified utilizing a splicing modifier compound of Formula (I), are described herein. In another aspect, methods for modifying RNA splicing to modulate the amount of an RNA transcript or protein product encoded by a gene, wherein a precursor RNA transcript transcribed from the gene is modified to comprise an intronic REMS utilizing a splicing modifier compound of Formula (I), are described herein.

US Patent:

20190330615, Oct 31, 2019

Filed:

Nov 27, 2017

Appl. No.:

16/463775

Inventors:

- South Plainfield NJ, US
Amal Dakka - Whitehouse Station NJ, US
Kerstin Effenberger - Metuchen NJ, US
Vijayalakshmi Gabbeta - Bridgewater NJ, US
Wencheng Li - Bedminster NJ, US
Nikolai Naryshkin - East Brunswick NJ, US
Christopher Trotta - Somerset NJ, US
Kari Wiedinger - New Providence NJ, US

Assignee:

PTC THERAPEUTICS, INC. - South Plainfield NJ

International Classification:

C12N 15/10

Abstract:

In one aspect, described herein is an intronic recognition element for splicing modifier (iREMS) that can be recognized by a compound provided herein. In another aspect, described herein are methods for modulating the amount of a product of a gene, wherein a precursor RNA transcript transcribed from the gene contains an intronic REMS, and the methods utilizing a compound described herein. More particularly, described herein are methods for modulating the amount of an RNA transcript or protein product encoded by a gene, wherein a precursor RNA transcript transcribed from the gene comprises an intronic REMS, and the methods utilizing a compound described herein. In another aspect, provided herein are artificial gene constructs comprising an intronic REMS, and uses of those artificial gene constructs to modulate protein production. In another aspect, provided herein are methods for altering endogenous genes to comprise an intronic REMS, and the use of a compound described herein to modulate protein produced from such altered endogenous genes.