Article
Hydroxyethylamine & phthalimide analogs restoring defects due to GNE dysfunction: rare disease therapeutic significance.
Molecular medicine (Cambridge, Mass.) - 3 Dec 2025
Singh Shagun, Bansal Meenakshi, Sharma Neha, Yadav Vikas, Mashangva Fluencephila, Oswalia Jyoti, Gautam Vaishali, Jhingan Gagan Deep, Subbarao Naidu, Rathi Brijesh, Arya Ranjana
Abstract excerpt
Rare diseases refer to a group of neglected diseases with low prevalence that face challenges in diagnostics as well as therapeutics due to phenotypic heterogeneity and ineffective clinical trials. In this study, we evaluated two novel analogs of hydroxyethylamine & phthalimide (LTC-181 and LTC-1717) for their potential effect on the epimerase activity of mutant GNE proteins associated with GNE myopathy. GNE gene...
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