Article
The G46S-hPAH mutant protein: a model to study the rescue of aggregation-prone PKU mutations by chaperones.
Molecular genetics and metabolism - 1 Jan 2011
Leandro João, Saraste Jaakko, Leandro Paula, Flatmark Torgeir
Abstract excerpt
Phenylketonuria (PKU), the most common inborn error of metabolism, is caused by dysfunction of the liver enzyme phenylalanine hydroxylase (PAH), with more than 550 PAH gene mutations identified to date. A large number of these mutations result in mutant forms of the enzyme displaying reduced stab...
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