Article
Expression of N471D strumpellin leads to defects in the endolysosomal system.
Disease models & mechanisms - 13 Sept 2018
Song Lin, Rijal Ramesh, Karow Malte, Stumpf Maria, Hahn Oliver, Park Laura, Insall Robert, Schröder Rolf, Hofmann Andreas, Clemen Christoph S, Eichinger Ludwig
Abstract excerpt
Hereditary spastic paraplegias (HSPs) are genetically diverse and clinically characterised by lower limb weakness and spasticity. The N471D and several other point mutations of human strumpellin (Str; also known as WASHC5), a member of the Wiskott-Aldrich syndrome protein and SCAR homologue (WASH) complex, have been shown to cause a form of HSP known as spastic paraplegia 8 (SPG8). To investigate the molecular...
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