Expression of N471D strumpellin leads to defects in the endolysosomal system

Expression of N471D strumpellin leads to defects in the endolysosomal system

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...

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Bibliographic Details
Main Authors: Lin Song, Ramesh Rijal, Malte Karow, Maria Stumpf, Oliver Hahn, Laura Park, Robert Insall, Rolf Schröder, Andreas Hofmann, Christoph S. Clemen, Ludwig Eichinger
Format: Article
Language:English
Published: The Company of Biologists 2018-09-01
Series:Disease Models & Mechanisms
Subjects:
Spastic paraplegia 8
Strumpellin
WASH complex
Dictyostelium discoideum
Endolysosomal system
Exocytosis
Lysosome
Online Access:http://dmm.biologists.org/content/11/9/dmm033449

Internet

http://dmm.biologists.org/content/11/9/dmm033449

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