The G46S-hPAH mutant protein: a model to study the rescue of aggregation-prone PKU mutations by chaperones.
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A new model for allosteric regulation of phenylalanine hydroxylase: implications for disease and therapeuticsPhenylketonuria: translating research into novel therapiesThe Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.Unusual presentation of two Chinese phenylketonuria sisters who were misdiagnosed for years.Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain.A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria.
P2860
The G46S-hPAH mutant protein: a model to study the rescue of aggregation-prone PKU mutations by chaperones.
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The G46S-hPAH mutant protein: ...... e PKU mutations by chaperones.
@en
The G46S-hPAH mutant protein: ...... e PKU mutations by chaperones.
@nl
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label
The G46S-hPAH mutant protein: ...... e PKU mutations by chaperones.
@en
The G46S-hPAH mutant protein: ...... e PKU mutations by chaperones.
@nl
prefLabel
The G46S-hPAH mutant protein: ...... e PKU mutations by chaperones.
@en
The G46S-hPAH mutant protein: ...... e PKU mutations by chaperones.
@nl
P2093
P1476
The G46S-hPAH mutant protein: ...... e PKU mutations by chaperones.
@en
P2093
Jaakko Saraste
João Leandro
Paula Leandro
Torgeir Flatmark
P356
10.1016/J.YMGME.2011.07.024
P478
P577
2011-07-31T00:00:00Z