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Cln3-mutations underlying juvenile NCL cause significantly reduced levels of Ppt1-protein and Ppt1-enzyme activity in the lysosome
Mutations in at least 13 different genes (called CLNs) underlie various forms of neuronal ceroid lipofuscinoses (NCLs), a group of the most common neurodegenerative lysosomal storage diseases. While inactivating mutations in the CLN1 gene, encoding palmitoyl-protein thioesterases-1 (PPT1), cause inf...
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| Publicado no: | J Inherit Metab Dis |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6739123/ https://ncbi.nlm.nih.gov/pubmed/31025705 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12106 |
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