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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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Autori principali: Underhaug, Jarl, Aubi, Oscar, Martinez, Aurora
Natura: Artigo
Lingua:Inglês
Pubblicazione: Bentham Science Publishers 2012
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Accesso online: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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