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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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Bibliografski detalji
Glavni autori: Underhaug, Jarl, Aubi, Oscar, Martinez, Aurora
Format: Artigo
Jezik:Inglês
Izdano: Bentham Science Publishers 2012
Teme:
Online pristup: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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