4.5 Review

Genetics of Phenylketonuria: Then and Now

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemistry & Molecular Biology

Identification of the Allosteric Site for Phenylalanine in Rat Phenylalanine Hydroxylase

Shengnan Zhang et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2016)

Article Multidisciplinary Sciences

First structure of full-length mammalian phenylalanine hydroxylase reveals the architecture of an autoinhibited tetramer

Emilia C. Arturo et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)

Editorial Material Pharmacology & Pharmacy

Alternative therapies to address the unmet medical needs of patients with phenylketonuria

Nenad Blau et al.

EXPERT OPINION ON PHARMACOTHERAPY (2015)

Article Biochemistry & Molecular Biology

Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria

Sarah Wettstein et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

Review Pathology

Molecular genetics and diagnosis of phenylketonuria: state of the art

Nenad Blau et al.

EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2014)

Article Gastroenterology & Hepatology

Treatment of Phenylketonuria Using Minicircle-Based Naked-DNA Gene Transfer to Murine Liver

Hiu Man Viecelli et al.

HEPATOLOGY (2014)

Article Chemistry, Multidisciplinary

Erythrocyte-mediated delivery of phenylalanine ammonia lyase for the treatment of phenylketonuria in BTBR-Pahenu2 mice

Luigia Rossi et al.

JOURNAL OF CONTROLLED RELEASE (2014)

Article Endocrinology & Metabolism

Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators

Ania C. Muntau et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2014)

Article Endocrinology & Metabolism

Phenylketonuria Scientific Review Conference: State of the science and future research needs

Kathryn M. Camp et al.

MOLECULAR GENETICS AND METABOLISM (2014)

Review Biochemistry & Molecular Biology

New Strategies for the Treatment of Phenylketonuria (PKU)

Pietro Strisciuglio et al.

METABOLITES (2014)

Article Biochemistry & Molecular Biology

A new model for allosteric regulation of phenylalanine hydroxylase: Implications for disease and therapeutics

Eileen K. Jaffe et al.

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2013)

Article Chemistry, Medicinal

Phenylalanine Hydroxylase Misfolding and Pharmacological Chaperones

Jarl Underhaug et al.

CURRENT TOPICS IN MEDICINAL CHEMISTRY (2013)

Article Genetics & Heredity

Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain

Maria A. Bueno et al.

JOURNAL OF HUMAN GENETICS (2013)

Article Biochemistry & Molecular Biology

Novel pharmacological chaperones that correct phenylketonuria in mice

Sandra Santos-Sierra et al.

HUMAN MOLECULAR GENETICS (2012)

Article Endocrinology & Metabolism

An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia

Thomas Opladen et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2012)

Article Endocrinology & Metabolism

Diet in phenylketonuria: A snapshot of special dietary costs and reimbursement systems in 10 international centers

A. Belanger-Quintana et al.

MOLECULAR GENETICS AND METABOLISM (2012)

Review Biochemistry & Molecular Biology

Tetrahydrobiopterin: biochemistry and pathophysiology

Ernst R. Werner et al.

BIOCHEMICAL JOURNAL (2011)

Review Genetics & Heredity

Phenylalanine hydroxylase deficiency

John J. Mitchell et al.

GENETICS IN MEDICINE (2011)

Review Endocrinology & Metabolism

Nutrition in phenylketonuria

A. MacDonald et al.

MOLECULAR GENETICS AND METABOLISM (2011)

Article Endocrinology & Metabolism

The reality of dietary compliance in the management of phenylketonuria

Anita MacDonald et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2010)

Article Medicine, General & Internal

Phenylketonuria

Nenad Blau et al.

LANCET (2010)

Article Endocrinology & Metabolism

Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency

Nenad Blau

EXPERT REVIEW OF ENDOCRINOLOGY & METABOLISM (2010)

Article Endocrinology & Metabolism

Disorders of biopterin metabolism

Nicola Longo

JOURNAL OF INHERITED METABOLIC DISEASE (2009)

Article Clinical Neurology

Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency

F. Porta et al.

NEUROLOGY (2009)

Article Genetics & Heredity

Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability

Soren W. Gersting et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Article Genetics & Heredity

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Marcel R. Zurflueh et al.

HUMAN MUTATION (2008)

Article Genetics & Heredity

Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene

Dani Bercovich et al.

JOURNAL OF HUMAN GENETICS (2008)

Article Pediatrics

Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria

Betina Fiege et al.

JOURNAL OF PEDIATRICS (2007)

Review Genetics & Heredity

The PAH gene, phenylketonuria, and a paradigm shift

Charles R. Scriver

HUMAN MUTATION (2007)

Article Biochemistry & Molecular Biology

Co-expression of different subunits of human phenylalanine hydroxylase: Evidence of negative interallelic complementation

Joao Leandro et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2006)

Article Multidisciplinary Sciences

Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

H Erlandsen et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)

Article Genetics & Heredity

PAHdb 2003:: What a locus-specific knowledgebase can do

CR Scriver et al.

HUMAN MUTATION (2003)

Article Medicine, General & Internal

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

AC Muntau et al.

NEW ENGLAND JOURNAL OF MEDICINE (2002)

Article Biochemistry & Molecular Biology

Expression analysis of phenylketonuria mutations -: effect on folding and stability of the phenylalanie hydroxylase protein

A Gámez et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2000)