Improvement of Mutant Galactose-1-Phosphate Uridylyltransferase (GALT) Activity by FDA-Approved Pharmacochaperones: A Preliminary Study.

• Tác giả: Bijina Balakrishnan, Angelo Facchiano, Giulia Giliberti, Kent Lai, Anna Marabotti, Jaden Miner, Stefania Piscosquito, Bernardina Scafuri
• Ngôn ngữ: eng
• Ký hiệu phân loại: 663.12 Preliminary preparations
• Thông tin xuất bản: Switzerland : International journal of molecular sciences , 2025
• Bộ sưu tập: NCBI
• ID: 68683

Tóm tắt

Classic galactosemia is a rare disease with long-term consequences that seriously affect the quality of life of patients. To date, various therapeutic approaches are being developed, but treatments that target the molecular defects in the mutant galactose-1-phosphate uridylyltransferase (