Elucidating molecular connetion between IAHSP onset and Alsin protein by means of Homology Modelling and Molecular Dynamics

Marcello Miceli, C. Exertier, B. Vallone, M. Cavaglià, M. Deriu
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Abstract

The Infantile-onset Ascending Hereditary Spastic Paralysis (IAHSP) is an incurable rare neurodegerative disease related to a mutation-driven aberrant behaviour of the Alsin protein. The lack of information on Alsin atomic structure limits a complete understanding on pathology mechanisms. In this work, molecular modelling techniques have been applied to shed lights on Alsin folding dynamics and misfunction induced by aberrant mutations.
利用同源性建模和分子动力学方法阐明IAHSP发病与Alsin蛋白之间的分子联系
婴儿起病的遗传性痉挛性瘫痪(IAHSP)是一种无法治愈的罕见神经退行性疾病,与突变驱动的Alsin蛋白异常行为有关。关于Alsin原子结构的信息的缺乏限制了对病理机制的完整理解。在这项工作中,分子模拟技术已经应用于阐明Alsin折叠动力学和异常突变诱导的功能失调。
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