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The hereditary spastic paraplegia protein strumpellin: Characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function

Mutations in the gene encoding strumpellin cause autosomal dominant hereditary spastic paraplegia (HSP), in which there is degeneration of corticospinal tract axons. Strumpellin is a component of the WASH complex, an actin-regulating complex that is recruited to endosomes by interactions with the re...

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Detalles Bibliográficos
Autores principales: Freeman, Caroline, Seaman, Matthew N.J., Reid, Evan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Pub. Co 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3714738/
https://www.ncbi.nlm.nih.gov/pubmed/23085491
http://dx.doi.org/10.1016/j.bbadis.2012.10.011