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Article

PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation.

Journal of inherited metabolic disease - 1 Apr 2011

Tan Lu, Narayan Srinivas B, Chen Jie, Meyers Gail Ditewig, Bennett Michael J

Abstract excerpt

Deficiency of carnitine palmitoyltransferase 1A (CPT1A) results in impaired hepatic long-chain fatty acid oxidation and ketogenesis. We have previously described a patient with a severe CPT1A phenotype who is homozygous for the nonsense mutation 478 C > T (R160X). It has been known for some time that gentamicin can promote readthrough of nonsense codons. Recently, a new compound (PTC124) with less clinical...

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Identifiers

PMID: 21253826
DOI: 10.1007/s10545-010-9265-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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