Elucidating molecular connection between IAHSP onset and Alsin protein by means of homology modelling and molecular dynamics

Authors

  • Marcello Miceli PolitoBIOMedLab, Department of Mechanical and Aerospace Engineering, Politecnico di Torino,Turin
  • Cecile Exertier Dipartimento di Scienze Biochimiche “A. Rossi Fanelli”, Sapienza, Università di Roma, Rome
  • Beatrice Vallone Dipartimento di Scienze Biochimiche “A. Rossi Fanelli”, Sapienza, Università di Roma, Rome
  • Marco Cavaglià PolitoBIOMedLab, Department of Mechanical and Aerospace Engineering, Politecnico di Torino,Turin
  • Marco A. Deriu PolitoBIOMedLab, Department of Mechanical and Aerospace Engineering, Politecnico di Torino,Turin

DOI:

https://doi.org/10.4081/bse.183

Keywords:

Molecular dynamics, homology modelling, neurodegenerative, IAHSP, rare pathologies

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.

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References

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.

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Published

29-09-2021

Issue

Vol. 2 No. 1 (2021)

Section

Communications

License

Copyright (c) 2021 The Authors

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

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How to Cite

Elucidating molecular connection between IAHSP onset and Alsin protein by means of homology modelling and molecular dynamics. (2021). Biomedical Science and Engineering, 2(1). https://doi.org/10.4081/bse.183