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Genetic Disruption of WASHC4 Drives Endo-lysosomal Dysfunction and Cognitive-Movement Impairments in Mice and Humans

2020-08-06

Abstract excerpt

<h4>ABSTRACT</h4> Mutation of the 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 uncover how dysfunction of endosomal SWIP leads to disease, we generate a mouse model of the human WASHC4 c.3056C>G mutation. Quantitative spatial prote...

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Literature Corpus work
cd1e25c6-b0a2-5129-a4d4-97e6cdd4837a
DOI
10.1101/2020.08.06.239517
Open publication

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Genetic Disruption of WASHC4 Drives Endo-lysosomal Dysfunction and Cognitive-Movement Impairments in Mice and HumansDOI 10.1101/2020.08.06.239517
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