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Progranulin Associates with Hexosaminidase A and Ameliorates GM2 Ganglioside Accumulation and Lysosomal Storage in Tay-Sachs Disease
Tay-Sachs disease (TSD) is a lethal lysosomal storage disease (LSD) caused by mutations in the HexA gene, which can lead to deficiency of β-hexosaminidase A (HexA) activity and consequent accumulation of its substrate, GM2 ganglioside. Recent reports that progranulin (PGRN) functions as a chaperone...
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| Veröffentlicht in: | J Mol Med (Berl) |
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| Hauptverfasser: | , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6240367/ https://ncbi.nlm.nih.gov/pubmed/30341570 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00109-018-1703-0 |
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