Effects of gentamicin inducing readthrough premature stop Codons: A study of alpha-L-iduronidase nonsense variants in COS-7 Cells

• المؤلف الرئيسي: Ngiwsara L.
• مؤلفون آخرون: Mahidol University
• التنسيق: مقال
• منشور في: 2023
• الموضوعات: Biochemistry, Genetics and Molecular Biology
• الوصول للمادة أونلاين: https://repository.li.mahidol.ac.th/handle/123456789/83493

Mucopolysaccharidosis type I Hurler syndrome (MPS IH) is a severe lysosomal storage disorder caused by alpha-L-iduronidase (IDUA) deficiency. Premature truncation mutations (PTC) are the most common (50%–70%) type of IDUA mutations and correlate with MPS IH. Nonsense suppression therapy is a therape...