Ptc Therapeutics, Inc.

Yuki Tomizawa

Ellen Welch

Nikolai A Naryshkin

Charles Romfo

Meenal Patel

Westley J Friesen

Jin Zhuo

Jin Zhou

Priya Vazirani

Provided herein are methods of treating, preventing, ameliorating or managing a nonsense mutation mediated epileptic disease, comprising administering a 1,2,4-oxadiazole benzoic acid to a patient having a nonsense mutation mediated epileptic disease. In particular, provided herein are methods of treating, preventing, ameliorating or managing a CDKL5 and/or SCN1A (Dravet syndrome) nonsense mutation mediated epileptic disease.

Methods for treating epilepsy

The present invention provides compounds and assays for the identification and validation of compounds for use in the treatment of muscular mystrophy (MD), or a form thereof, in which said compounds increase the post-transcriptional expression of a target gene (i.e., mIGF1, ITGA7, or UTRN).

Methods of screening for compounds for treating muscular dystrophy using human ALPHA7 integrin mRNA translation regulation

Methods of screening for compounds for treating muscular dystrophy using mIGF1 mRNA translation regulation

The present invention provides compounds and assays for the identification and validation of compounds for use in the treatment of muscular dystrophy (MD), or a form thereof, in which said compounds increase the post-transcriptional expression of a target gene (i.e., mIGF1, ITGA7, or UTRN).

Methods of screening for compounds for treating muscular dystrophy using UTRN mRNA translation regulation

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Edison, NJ, United States of America

Yuki Tomizawa