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Ap4b1-knockout mouse model of hereditary spastic paraplegia type 47 displays motor dysfunction, aberrant brain morphology and ATG9A mislocalization

Mutations in any one of the four subunits (ɛ4, β4, μ4 and σ4) comprising the adaptor protein Complex 4 results in a complex form of hereditary spastic paraplegia, often termed adaptor protein Complex 4 deficiency syndrome. Deficits in adaptor protein Complex 4 complex function have been shown to dis...

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Detalles Bibliográficos
Autores principales: Scarrott, Joseph M, Alves-Cruzeiro, João, Marchi, Paolo M, Webster, Christopher P, Yang, Zih-Liang, Karyka, Evangelia, Marroccella, Raffaele, Coldicott, Ian, Thomas, Hannah, Azzouz, Mimoun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825813/
https://www.ncbi.nlm.nih.gov/pubmed/36632189
http://dx.doi.org/10.1093/braincomms/fcac335