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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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Detalles Bibliográficos
Main Authors: Underhaug, Jarl, Aubi, Oscar, Martinez, Aurora
Formato: Artigo
Idioma:Inglês
Publicado: Bentham Science Publishers 2012
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Acceso en liña: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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