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Can I read Understanding the structural and functional changes and biochemical pathomechanism of the cardiomyopathy-associated p.R123W mutation in human αB-crystallin on EtoBox?
Understanding the structural and functional changes and biochemical pathomechanism of the cardiomyopathy-associated p.R123W mutation in human αB-crystallin by Leila Rezaei Somee; Anis Barati; Mohammad Bagher Shahsavani; Masaru Hoshino; Jun Hong; Ashutosh Kumar; Ali Akbar Moosavi-Movahedi; Massoud Amanlou; Reza Yousefi is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Understanding the structural and functional changes and biochemical pathomechanism of the cardiomyopathy-associated p.R123W mutation in human αB-crystallin about?
αB-crystallin, a member of the small heat shock protein (sHSP) family, is expressed in diverse tissues, including the eyes, brain, muscles, and heart. This protein plays a crucial role in maintaining eye lens transparency and exhibits holdase chaperone and anti-apoptotic activities. Therefore, structural and functional changes caused by genetic mutations in this protein may contribute to the development of disorders like cataract and cardiomyopathy. Recently, the substitution of arginine 123 with tryptophan (p.R123W mutation) in human αB-crystallin has been reported to trigger cardiomyopathy. In this study, human αB-crystallin was expressed in Escherichia coli (E. coli), and the missense mutation p.R123W was created using site-directed mutagenesis. Following purification via anion exchange chromatography, the structural and functional properties of both proteins were investigated and compared using a wide range of spectroscopic and microscopic methods. The p.R123W mutation induced significant alterations in the secondary, tertiary, and quaternary structures of human αB-crystallin. This pathogenic mutation resulted in an increased β-sheet structure and formation of protein oligomers
Who reads Understanding the structural and functional changes and biochemical pathomechanism of the cardiomyopathy-associated p.R123W mutation in human αB-crystallin?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Leila Rezaei Somee; Anis Barati; Mohammad Bagher Shahsavani; Masaru Hoshino; Jun Hong; Ashutosh Kumar; Ali Akbar Moosavi-Movahedi; Massoud Amanlou; Reza Yousefi
- Publisher
- Elsevier BV
- Published
- 2024
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)