Article
Hereditary spastic paraplegia SPG8 mutations impair CAV1-dependent, integrin-mediated cell adhesion.
Science signaling - 7 Jan 2020
Lee Seongju, Park Hyungsun, Zhu Peng-Peng, Jung Soon-Young, Blackstone Craig, Chang Jaerak
Abstract excerpt
Mutations in WASHC5 (also known as KIAA0196) cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG8. WASHC5, commonly called strumpellin, is a core component of the Wiskott-Aldrich syndrome protein and SCAR homolog (WASH) complex that activates actin nucleation at endosomes. Although various other cellular roles for strumpellin have also been described, none account for how SPG8-associated...
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