C R Scriver Selected Research

Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)

7/2001	Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia.
2/2000	Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype.

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C R Scriver Research Topics

Disease

6	Phenylketonurias (Phenylketonuria) 09/2006 - 01/2000
2	Rickets (Rachitis) 01/2004 - 01/2001
1	Osteomalacia 01/2004
1	Ketosis 02/2001
1	Oculopharyngeal Muscular Dystrophy 01/2001
1	Cystic Fibrosis (Mucoviscidosis) 01/2001
1	Spastic ataxia Charlevoix-Saguenay type 01/2001
1	Hyperlipoproteinemia Type II (Familial Hypercholesterolemia) 01/2001
1	Vitamin D Deficiency 01/2001
1	beta-Thalassemia (Cooley's Anemia) 01/2001
1	Tyrosinemias (Tyrosinemia) 01/2001

Drug/Important Bio-Agent (IBA)

2	Proteins (Proteins, Gene)FDA Link 01/2004 - 02/2001
2	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 07/2001 - 02/2000
2	EnzymesIBA 07/2001 - 01/2000
1	Complementary DNA (cDNA)IBA 09/2006
1	Dihydropteridine Reductase (6,7 Dihydropteridine Reductase)IBA 07/2001
1	sapropterin (tetrahydrobiopterin)FDA Link 07/2001
1	Hydro-Lyases (Dehydratases)IBA 07/2001
1	PterinsIBA 07/2001
1	Biological ProductsIBA 04/2001
1	Beta ketothiolase deficiencyIBA 02/2001
1	Dihydrotachysterol (AT 10)IBA 01/2001
1	Poly(A)-Binding Protein IIIBA 01/2001
1	phenylpyruvic acidIBA 05/2000
1	phenylacetic acid (phenylacetate)FDA Link 05/2000