PMID: 40868Sep 2, 1979

Kinetic and electrophoretic studies of human erythrocytes deficient in pyrimidine 5'-nucleotidase

Human Genetics
K Shinohara, K R Tanaka

Abstract

The mutant enzyme of a patient with hereditary pyrimidine 5'-nucleotidase deficiency was analyzed biochemically. Partially purified by DEAE-Sephadex and concentrated by ultrafiltration, the enzyme had a high Km for the substrate uridine monophosphate. Utilization of the substrate cytidine monophosphate was normal, but utilization of adenosine monophosphate was greatly increased. The enzyme was stable to heat; the pH optimum was acidic. Electrophoresis of the enzyme revealed a very faint, slower than normal band.

References

Dec 8, 1980·Clinica Chimica Acta; International Journal of Clinical Chemistry·Y IshidaA Kibe
May 30, 1983·Clinica Chimica Acta; International Journal of Clinical Chemistry·A HironoS Miwa
Jan 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·D E PagliaR A Brockway
Aug 5, 2000·Baillière's Best Practice & Research. Clinical Haematology·J L Vives i Corrons

Citations

Sep 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·J D TorranceE Beutler
Aug 15, 1977·Clinica Chimica Acta; International Journal of Clinical Chemistry·R RosaJ Rosa
Oct 1, 1974·The Journal of Clinical Investigation·W N ValentineW S Adams

Related Concepts

NT5C3A
Ion-Exchange Chromatography Procedure
Erythrocytes
Hydrogen-Ion Concentration
Pure Red-Cell Aplasia
Nucleosidases
Electrophoresis, Starch Gel

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.

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.

Synapse Loss as Therapeutic Target in MS

As we age, the number of synapses present in the human brain starts to decline, but in neurodegenerative diseases this occurs at an accelerated rate. In MS, it has been shown that there is a reduction in synaptic density, which presents a potential target for treatment. Here is the latest research on synapse loss as a therapeutic target in MS.

Artificial Intelligence in Cardiac Imaging

Artificial intelligence (ai) techniques are increasingly applied to cardiovascular (cv) medicine in cardiac imaging analysis. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

Social Learning

Social learning involves learning new behaviors through observation, imitation and modeling. Follow this feed to stay up to date on the latest research.

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.

Single Cell Chromatin Profiling

Techniques like ATAC-seq and CUT&Tag have the potential to allow single cell profiling of chromatin accessibility, histones, and TFs. This will provide novel insight into cellular heterogeneity and cell states. Discover the latest research on single cell chromatin profiling here.

Genetic Screens in iPSC-derived Brain Cells

Genetic screening is a critical tool that can be employed to define and understand gene function and interaction. This feed focuses on genetic screens conducted using induced pluripotent stem cell (iPSC)-derived brain cells.