Treatment of a methylmalonyl-CoA mutase stopcodon mutation

Biochemical and Biophysical Research Communications

Volumn 427, Issue 4, 2012, Pages 753-757

  Buck, Nicole E ^a   Wood, Leonie R ^a   Hamilton, Natasha J ^a   Bennett, Michael J ^b,c   Peters, Heidi L ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Methylmalonic aciduria; Methylmalonyl CoA mutase; Mouse model; Pharmacological treatment; Read through; Stop codon

Indexed keywords

ATALUREN; GENTAMICIN; GREEN FLUORESCENT PROTEIN; METHYLMALONYL COENZYME A MUTASE;

ANIMAL CELL; ARTICLE; ENZYME ACTIVITY; ENZYME ASSAY; FIBROBLAST; FLOW CYTOMETRY; METHYLMALONIC ACIDURIA; MOUSE; MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON;

AMINO ACID METABOLISM, INBORN ERRORS; ANIMALS; CELL LINE; CODON, NONSENSE; CODON, TERMINATOR; DISEASE MODELS, ANIMAL; FIBROBLASTS; GENTAMICINS; HUMANS; METHYLMALONYL-COA MUTASE; MICE; MICE, TRANSGENIC; OXADIAZOLES;

MUS;

EID: 84868212216     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2012.09.133     Document Type: Article

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