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Myopathy-inducing mutation H40Y in ACTA1 hampers actin filament structure and function

In humans, more than 200 missense mutations have been identified in the ACTA1 gene. The exact molecular mechanisms by which, these particular mutations become toxic and lead to muscle weakness and myopathies remain obscure. To address this, here, we performed a molecular dynamics simulation, and we...

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Detalles Bibliográficos
Autores principales: Chan, Chun, Fan, Jun, Messer, Andrew E., Marston, Steve B., Iwamoto, Hiroyuki, Ochala, Julien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Pub. Co 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4894126/
https://www.ncbi.nlm.nih.gov/pubmed/27112274
http://dx.doi.org/10.1016/j.bbadis.2016.04.013