作者
Muneeza Qayyum Khan, Hira Mubeen, Zohaira Qayyum Khan, Ammara Masood, Asma Zafar, Javed Iqbal Wattoo, Alim Un Nisa
发表日期
2023/6
期刊
Irish Journal of Medical Science (1971-)
卷号
192
期号
3
页码范围
1435-1445
出版商
Springer International Publishing
简介
Background
Huntington’s disease is a rare neurodegenerative illness of the central nervous system that is inherited in an autosomal dominant pattern. Mutant huntingtin protein is produced as a result of enlargement of CAG repeat in the N-terminal of the polyglutamine tract.
Aim of the study
Herein, we aim to investigate the mutations and their effects on the HTT gene and its genetic variants. Additionally, the protein–protein interaction of HTT with other proteins and receptor-ligand interaction with the three-dimensional structure of huntingtin protein were identified.
Methods
A comprehensive analysis of the HTT interactome and protein–ligand interaction has been carried out to provide a global picture of structure–function analysis of huntingtin protein. Mutations were analyzed and mutation verification tools were used to check the effect of mutation on protein function.
Results
The results showed, mutations in a single …
引用总数
学术搜索中的文章