Whole-exome sequencing (WES) is a new tool that allows the rapid, inexpensive and accurate exploration of Mendelian and complex diseases, such as obesity. To identify sequence variants associated with obesity, we performed WES of family trios of one male teenager and one female child with severe early-onset obesity. Additionally, the teenager patient had hypopituitarism and hyperprolactinaemia....

Inosine, an endogenous nucleoside, has recently been shown to exert potent effects on the immune, neural, and cardiovascular systems. This work addresses modulation of intermediary metabolism by inosine through adenosine receptors (ARs) in isolated rat hepatocytes. We conducted an in silico search in the GenBank and complete genomic sequence databases for additional adenosine/inosine receptors ...

Initial rate studies were carried out using solubilized bovine brain hexokinase. Both ATP 4and 0i, y-5'-adenylyl methylene diphosphonate are competitive inhibitors of MgATP 2and mixed inhibitors of the sugar substrate, while N-acetylglucosamine, a competitive inhibitor of fructose, is a mixed inhibitor of MgATP 2. These results are consistent with a random Bi Bi mechanism for the brain enzyme. ...

catalyzed by adenosine triphosphate-creatine transphosphorylase can be described by a reasonable kinetic scheme. It was shown that MgATPzis the “true substrate,” that the Michaelis constant is the dissociation constant of the enzyme-substrate complex, and that the pH-activity curve resembles a single ionization curve with pK N 6.5. It was of interest to study the kinetics of the reverse process...

Compartmentation is essential for the localization of biological processes within a cell. In 2010, three groups independently reported that cytidine triphosphate synthase (CTPS), a metabolic enzyme for de novo synthesis of the nucleotide CTP, is compartmentalized in cytoophidia (Greek for "cellular snakes") in bacteria, yeast, and fruit flies. Subsequent studies demonstrate that CTPS can also f...

Adenosine deaminase deficiency accounts for approximately 15-20% of severe combined immunodeficiency in humans. The gene for adenosine deaminase is located on chromosome 20q12-q13.11 and codes for an aminohydrolase that catalyzes the deamination of adenosine and deoxyadenosine to inosine and deoxyinosine, respectively. Absence of the enzyme causes a build-up of the substrates in addition to exc...

Cell-free extracts from nodules of cowpea (Vigna unguiculata L. (Walp.) cv Caloona:Rhizobium strain CB756) prepared in the presence of 15% (v/v) glycerol showed high rates (30 to 60 nanomoles NAD reduced per minute per gram fresh weight nodule) of inosine monophosphate oxidoreductase (EC 1.2.1.14) activity. The enzyme was labile (half-life of activity less than 3 hours) but could be stabilized ...

Increased ribonucleotide reductase (RR) activity has been linked with malignant transformation and tumor cell growth. Therefore, this enzyme is considered to be an excellent target for cancer chemotherapy. We have examined the effects of a newly patented RR inhibitor, trimidox (3,4,5-trihydroxybenzohydroxamidoxime). Trimidox inhibited the growth of human promyelocytic leukemia HL-60 cells with ...

BACKGROUND The objective of this study was to investigate purine nucleotide metabolism in peripheral blood mononuclear cells (PBMC) of cardiac transplant recipients switched from azathioprine to mycophenolate mofetil (MMF). METHODS Concentrations of guanosine 5'triphosphate (GTP) and adenosine 5'triphosphate (ATP), the activities of inosine monophosphate dehydrogenase (IMPDH), guanine phospho...

The effects of magnesium and calcium on the adenosine triphosphate-induced contraction of glycerinated muscle fibers were recently reexamined. Magnesium and calcium were both shown to have a dual effect on the contractility of glycerinated fibers (1). By using myosin B suspensions in place of glycerinated fibers, we compared the dual effect of magnesium on the contractile phenomenon called “sup...