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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 wi...

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Bibliographic Details
Main Authors: Underhaug, Jarl, Aubi, Oscar, Martinez, Aurora
Format: Artigo
Language:Inglês
Published: Bentham Science Publishers 2012
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3664513/
https://ncbi.nlm.nih.gov/pubmed/23339306
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2174/1568026611212220008
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