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Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients
Infantile neuronal ceroid lipofuscinosis (INCL), a lethal hereditary neurodegenerative lysosomal storage disorder, affects mostly children. It is caused by inactivating mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene. Nonsense mutations in a gene generate premature termination codons p...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3220191/ https://ncbi.nlm.nih.gov/pubmed/21704547 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2011.05.021 |
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