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Pubmed ID :28959312
Publication Date : //

Sodium Butyrate and Valproic Acid as Splicing Restoring Agents in Erythroid Cells of β-Thalassemic Patients.


β-Thalassemia is a common autosomal recessive disorder in human caused by a defect in chain synthesis. The most common mutations causing β-Thalassemia have been found to be splicing mutations. Most of which activate aberrant cryptic splicing/sites without complete disruption of normal splicing. IVSI-110 mutation, a common splicing mutation, leads to a 90% reduction of normal synthesis and lead to blood transfusion dependency in the homozygote forms. However, modulation of splicing can be achieved by activation or suppression of transacting factors such as SR (Serine, Arginine) amino acids and hnRNPs (Heterogeneous ribonucleoprotein particle) through drugs.

Authors : Shekari Khaniani Mahmoud , Tagizadeh Mahdieh , Hosseinpour Feizi Abbasali , Mansoori Derakhshan Sima ,

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