Article
The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency.
Molecular genetics and metabolism - 1 Jan 2000
Eeds A M, Hall L D, Yadav M, Willis A, Summar S, Putnam A, Barr F, Summar M L
Abstract excerpt
CPSI deficiency is an inborn error of metabolism caused by mutations in the first, rate-determining enzyme of the urea cycle. Our mutation detection data from this disorder suggest that a significant number of mutant alleles cause RNA instability, most likely through the nonsense-mediated decay pathway. We identified 26 non-consanguinous CPSID patients with an available RNA source (liver tissue or cell line) and...
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