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The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis
Mutations in palmitoyl-protein thioesterase 1 (PPT1), a lysosomal enzyme that removes fatty acyl groups from cysteine residues in modified proteins, cause the fatal inherited neurodegenerative disorder infantile neuronal ceroid lipofuscinosis. The accumulation of undigested substrates leads to the f...
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| Auteurs principaux: | , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
The National Academy of Sciences
2000
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC18274/ https://ncbi.nlm.nih.gov/pubmed/10781062 |
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