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

Journal of Inherited Metabolic Disease

Volumn 34, Issue 2, 2011, Pages 443-447

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

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ATALUREN; CARNITINE PALMITOYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE I; CARNITINE PALMITOYLTRANSFERASE IA; CARNITINE PALMITOYLTRANSFERASE II; COMPLEMENTARY DNA; GENTAMICIN; MESSENGER RNA; UNCLASSIFIED DRUG;

ARTICLE; CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY; CHILD; CONTROLLED STUDY; DNA SEQUENCE; DRUG MECHANISM; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; FEMALE; GENETIC DISORDER; GENETIC VARIABILITY; HOMOZYGOTE; HUMAN; HUMAN CELL; INCUBATION TIME; LIVER DYSFUNCTION; NONSENSE MUTATION; PRESCHOOL CHILD; PROTEIN EXPRESSION; SKIN FIBROBLAST; STOP CODON;

CARNITINE O-PALMITOYLTRANSFERASE; CHILD, PRESCHOOL; CODON; CODON, NONSENSE; FATTY ACIDS; FEMALE; FIBROBLASTS; GENTAMICINS; HOMOZYGOTE; HUMANS; HYPERAMMONEMIA; HYPOGLYCEMIA; KETONES; LIVER DISEASES; MUTATION; OXADIAZOLES; OXYGEN; PHENOTYPE; SKIN;

EID: 79955697278     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9265-5     Document Type: Article

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