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Natural phenylalanine hydroxylase variants that confer a mild phenotype affect the enzyme's conformational stability and oligomerization equilibrium

  • Published:2011-11 Issue:11 Volume:1812 Page:1435-1445
  • ISSN:0925-4439
  • Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
  • language:en
  • Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Cerreto Monica,Cavaliere Paola,Carluccio Carla,Amato Felice,Zagari Adriana,Daniele Aurora,Salvatore Francesco

Funder

Regione Campania

Ministero dell'Istruzione, dell'Università e della Ricerca-Rome

IRCCS – Fondazione SDN

Ministero Salute, Rome, Italy

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference49 articles.

1. The PAH gene, phenylketonuria, and a paradigm shift;Scriver;Hum. Mutat.,2007

2. Disorders of tetrahydrobiopterin and related biogenic amines;Blau,2001

3. Phenylketonuria: an inborn error of phenylalanine metabolism;Williams;Clin. Biochem. Rev.,2008

4. Phenylketonuria: dietary and therapeutic challenges;Giovannini;J. Inherit. Metab. Dis.,2007

5. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study;Levy;Lancet,2007

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