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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Detalles Bibliográficos
Autores principales: Song, Lin, Rijal, Ramesh, Karow, Malte, Stumpf, Maria, Hahn, Oliver, Park, Laura, Insall, Robert, Schröder, Rolf, Hofmann, Andreas, Clemen, Christoph S., Eichinger, Ludwig
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6177004/
https://www.ncbi.nlm.nih.gov/pubmed/30061306
http://dx.doi.org/10.1242/dmm.033449

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6177004/
https://www.ncbi.nlm.nih.gov/pubmed/30061306
http://dx.doi.org/10.1242/dmm.033449

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