Primary fibroblasts from CSPα mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis

Mutations in the co- chaperone protein, CSPα, cause an autosomal dominant, adult-neuronal ceroid lipofuscinosis (AD-ANCL). The current understanding of CSPα function exclusively at the synapse fails to explain the autophagy-lysosome pathway (ALP) dysfunction in cells from AD-ANCL patients. Here, we...

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Detalles Bibliográficos
Autores principales: Benitez, Bruno A., Sands, Mark S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5524943/
https://www.ncbi.nlm.nih.gov/pubmed/28740222
http://dx.doi.org/10.1038/s41598-017-06710-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5524943/
https://www.ncbi.nlm.nih.gov/pubmed/28740222
http://dx.doi.org/10.1038/s41598-017-06710-1

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