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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...
Sparad:
| I publikationen: | Sci Rep |
|---|---|
| Huvudupphovsmän: | , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Nature Publishing Group UK
2017
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5524943/ https://ncbi.nlm.nih.gov/pubmed/28740222 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-06710-1 |
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