Marcello Miceli, C. Exertier, B. Vallone, M. Cavaglià, M. Deriu
{"title":"Elucidating molecular connetion between IAHSP onset and Alsin protein by means of Homology Modelling and Molecular Dynamics","authors":"Marcello Miceli, C. Exertier, B. Vallone, M. Cavaglià, M. Deriu","doi":"10.4081/bse.2021.183","DOIUrl":null,"url":null,"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.","PeriodicalId":89077,"journal":{"name":"Annual ORNL Biomedical Science and Engineering Center Conference. ORNL Biomedical Science and Engineering Center Conference","volume":"11 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2021-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annual ORNL Biomedical Science and Engineering Center Conference. ORNL Biomedical Science and Engineering Center Conference","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4081/bse.2021.183","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
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.