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Article

Tissue‐specific variation in nonsense mutant transcript level and drug‐induced read‐through efficiency in the Cln1R151X mouse model of INCL

9 Dec 2015

Abstract excerpt

About 10% of inherited diseases are caused by nonsense mutations [Trends Mol Med 18 (2012) 688], and nonsense suppression drug therapy promoting translation through premature stop codons is an emerging therapeutic approach. Infantile neuronal ceroid lipofuscinosis (INCL), a childhood neurodegenerative disease, results from mutations in the CLN1 gene encoding the lysosomal enzyme, palmitoyl-protein thioesterase 1...

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PMID: 26648046
DOI: 10.1111/jcmm.12744

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