Expression of N471D strumpellin leads to defects in the endolysosomal system.

ABSTRACT: 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 functions of wild-type (WT) and N417D Str, we generated Dictyostelium Str^- cells and ectopically expressed Str^WT-GFP or Str^N471D-GFP in Str^- and WT cells. Overexpression of both proteins apparently caused a defect in cell division, as we observed a clear increase in multinucleate cells. Real-time PCR analyses revealed no transcriptio

SUBMITTER: Song L 

PROVIDER: S-EPMC6177004 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature