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Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans

Mutation of the Wiskott–Aldrich syndrome protein and SCAR homology (WASH) complex subunit, SWIP, is implicated in human intellectual disability, but the cellular etiology of this association is unknown. We identify the neuronal WASH complex proteome, revealing a network of endosomal proteins. To unc...

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Detalles Bibliográficos
Autores principales: Courtland, Jamie L, Bradshaw, Tyler WA, Waitt, Greg, Soderblom, Erik J, Ho, Tricia, Rajab, Anna, Vancini, Ricardo, Kim, Il Hwan, Soderling, Scott H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7984842/
https://www.ncbi.nlm.nih.gov/pubmed/33749590
http://dx.doi.org/10.7554/eLife.61590