Phenylalanine Hydroxylase Misfolding and Pharmacological Chaperones

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Phenylalanine Hydroxylase Misfolding and Pharmacological Chaperones†

Phenylketonuria (PKU) is a loss-of-function inborn error of metabolism. As many other inherited diseases the main pathologic mechanism in PKU is an enhanced tendency of the mutant phenylalanine hydroxylase (PAH) to misfold and undergo ubiquitin-dependent degradation. Recent alternative approaches with therapeutic potential for PKU aim at correcting the PAH misfolding, and in this respect pharma...

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Mouse phenylalanine hydroxylase. Homology and divergence from human phenylalanine hydroxylase.

The laboratory mouse represents an important model for the study of phenylalanine metabolism and the pathochemistry of phenylketonuria, yet mouse phenylalanine hydroxylase (PAH) has not been extensively studied. We report the cloning and sequencing of a mouse PAH cDNA, the expression of enzymic activity from the mouse PAH cDNA clone and the identification of mouse PAH and human PAH by two-dimen...

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Characterization of phenylalanine hydroxylase.

Iron can be bound to phenylalanine hydroxylase (PAH) in two environments. The assignment of the electron paramagnetic resonance spectrum of PAH to two, overlapping high-spin ferric signals is confirmed by computer simulation. Both environments are shown to be populated in the crude enzyme. Reconstitution of the apoenzyme demonstrated that the two iron environments are not interconvertible. Oxyg...

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Phenylalanine hydroxylase: metabolic aspects.

Phenylalanine hydroxylase [L-phenylalanine,tetrahydropteridine :oxygen oxidoreductase (4-hydroxylating); EC 1.14.16.11 catalyses the first reaction in the irreversible catabolism of the essential amino acid phenylalanine. Studies of the isolated enzyme and of phenylalanine metabolism in viuo and in oitro support the view that the hydroxylase plays the major role in regulating phenylalanine disp...

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ژورنال

عنوان ژورنال: Current Topics in Medicinal Chemistry

سال: 2013

ISSN: 1568-0266

DOI: 10.2174/1568026611212220008