https://doi.org/10.4081/bse.183
Elucidating molecular connection between IAHSP onset and Alsin protein by means of homology modelling and molecular dynamics
Published: 29 September 2021
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Authors
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.
Hadano S, Hand CK, Osuga H, et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 2001;29:166-73.
Yang Y, Hentati A, Deng HX, et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 2001;29:160-5.
Sato K, Otomo A, Ueda MT, Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2 mediated endosomal functionet al. J Biol Chem 2018;293:17135-53.
How to Cite
Miceli, M., Exertier, C., Vallone, B., Cavaglià, M., & Deriu, M. A. (2021). Elucidating molecular connection between IAHSP onset and Alsin protein by means of homology modelling and molecular dynamics. Biomedical Science and Engineering, 2(1). https://doi.org/10.4081/bse.183
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