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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Hlavní autoři: Sarkar, Chinmoy, Zhang, Zhongjian, Mukherjee, Anil B.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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On-line přístup: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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