Expression of N471D strumpellin leads to defects in the endolysosomal system

• Main Authors: Lin Song (Author), Ramesh Rijal (Author), Malte Karow (Author), Maria Stumpf (Author), Oliver Hahn (Author), Laura Park (Author), Robert Insall (Author), Rolf Schröder (Author), Andreas Hofmann (Author), Christoph S. Clemen (Author), Ludwig Eichinger (Author)
• Format: Book
• Published: The Company of Biologists, 2018-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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) c...