PMID: 4405625Feb 1, 1973

Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria

Proceedings of the National Academy of Sciences of the United States of America
P A FriedmanS Kaufman

Abstract

An extract from a liver biopsy of a patient with classical phenylketonuria contains phenylalanine 4-hydroxylase (EC 1.14.3.1) with a specific activity 0.27% of the normal activity of the hydroxylase. This enzyme from a patient with phenylketonuria is a structurally altered form of phenylalanine 4-hydroxylase that probably results from a mutation in the gene coding for the hydroxylase.

References

Jul 2, 1971·Biochemical and Biophysical Research Communications·J H TongN L Benoiton
Oct 1, 1969·Archives of Biochemistry and Biophysics·S Kaufman
May 1, 1969·Biochemical Pharmacology·E JequierA Sjoerdsma
May 1, 1965·Biochemical Pharmacology·S UDENFRIENDT Nagatsu
Apr 1, 1957·Proceedings of the Society for Experimental Biology and Medicine·H W WALLACEA MEISTER
Apr 1, 1957·Proceedings of the Society for Experimental Biology and Medicine·C MITOMAS UDENFRIEND
Feb 17, 1965·Biochemical and Biophysical Research Communications·M IKEDAS UDENFRIEND

Citations

Sep 8, 1978·European Journal of Pediatrics·H GröbeS Kaufman
Jan 1, 1985·Journal of Inherited Metabolic Disease·S Kaufman
Jan 1, 1978·Journal of Inherited Metabolic Disease·S Kaufman
Jan 1, 1980·Journal of Inherited Metabolic Disease·K H ChooD M Danks
Oct 16, 1975·The New England Journal of Medicine·S KaufmanA Krumholz
Sep 28, 1978·The New England Journal of Medicine·S KaufmanS Pueschel
Dec 4, 1980·The New England Journal of Medicine·C R Scriver, C L Clow
Jul 1, 1990·The Journal of Clinical Investigation·G N Thompson, D Halliday
Mar 17, 1999·Proceedings of the National Academy of Sciences of the United States of America·S Kaufman
Aug 1, 1978·Neurochemical Research·J V Hughes, T C Johnson
Aug 27, 2013·The Journal of Medicine and Philosophy·Halley S Faust
Feb 1, 1976·Kidney International·C R ScriverR R McInnes
Sep 22, 2007·Molecular Genetics and Metabolism·Yoshiyuki OkanoTsunekazu Yamano
Sep 1, 1988·The Journal of Pediatrics·F D LedleyS L Woo
Sep 1, 1992·Genomics·E Economou-PetersenF Güttler
Oct 1, 1980·Journal of Neurochemistry·J C NixonK Bartholomé
Dec 1, 1977·Scandinavian Journal of Clinical and Laboratory Investigation·F Güttler, G Hansen
May 1, 1978·Scandinavian Journal of Clinical and Laboratory Investigation·F GüttlerP Påby
Jun 25, 2019·Xenobiotica; the Fate of Foreign Compounds in Biological Systems·Stephen C Mitchell, Glyn B Steventon
Jul 7, 2007·Journal of the American Animal Hospital Association·Stephan NeumannSibylle Thuere
Apr 2, 1999·Nutrition Reviews·O de FreitasL J Greene
Oct 1, 1980·Die Naturwissenschaften·K Bartholomé

Related Concepts

Carbon Isotopes
Enzyme Induction
Liver
Lysophosphatidylcholines
Endorphenyl
Phenylalanine Hydroxylase
Hyperphenylalaninaemia
Pterins
Tyrosine
Tyrosine 3-Monooxygenase

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Synthetic Genetic Array Analysis

Synthetic genetic arrays allow the systematic examination of genetic interactions. Here is the latest research focusing on synthetic genetic arrays and their analyses.

Congenital Hyperinsulinism

Congenital hyperinsulinism is caused by genetic mutations resulting in excess insulin secretion from beta cells of the pancreas. Here is the latest research.

Neural Activity: Imaging

Imaging of neural activity in vivo has developed rapidly recently with the advancement of fluorescence microscopy, including new applications using miniaturized microscopes (miniscopes). This feed follows the progress in this growing field.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Epigenetic Memory

Epigenetic memory refers to the heritable genetic changes that are not explained by the DNA sequence. Find the latest research on epigenetic memory here.

Cell Atlas of the Human Eye

Constructing a cell atlas of the human eye will require transcriptomic and histologic analysis over the lifespan. This understanding will aid in the study of development and disease. Find the latest research pertaining to the Cell Atlas of the Human Eye here.

Femoral Neoplasms

Femoral Neoplasms are bone tumors that arise in the femur. Discover the latest research on femoral neoplasms here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.