Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 7 de 7
Filter
Add more filters










Database
Language
Publication year range
1.
Nucleosides Nucleotides Nucleic Acids ; 25(9-11): 1093-8, 2006.
Article in English | MEDLINE | ID: mdl-17065070

ABSTRACT

beta-Ureidopropionase is the third enzyme of the pyrimidine degradation pathway and it catalyses the irreversible hydrolysis of N-carbamyl-ss-aminoisobutyric acid or N-carbamyl-ss-alanine to beta-aminoisobutyric acid or ss-alanine, ammonia, and CO2. Analysis of the beta-ureidopropionase gene (UPB1) of the first 4 patients presenting with a complete enzyme deficiency, revealed the presence of 2 splice-site mutations (IVS1-2A>G and IVS8-1G>A) and one missense mutation (A85E). RT-PCR analysis of the complete beta-ureidopropionase cDNA suggested that both splice-site mutations lead to a variety of alternative splice variants, with deletions of a single or several exons. The alanine at position 85 was not conserved in other eukaryotic beta-ureidopropionase protein sequences.


Subject(s)
Amidohydrolases/deficiency , Amidohydrolases/genetics , Purine-Pyrimidine Metabolism, Inborn Errors/diagnosis , Purine-Pyrimidine Metabolism, Inborn Errors/genetics , Amino Acid Sequence , Animals , DNA Primers/chemistry , DNA, Complementary/metabolism , Exons , Humans , Leukocytes, Mononuclear/metabolism , Models, Genetic , Molecular Sequence Data , Mutation , Polymerase Chain Reaction
4.
J Pediatr ; 118(6): 885-90, 1991 Jun.
Article in English | MEDLINE | ID: mdl-1710267

ABSTRACT

Combined 3-methylglutaconic and 3-methylglutaric aciduria, one of the more common urinary organic acid abnormalities, has been observed in at least three clinical syndromes. We studied an additional seven patients with 3-methylglutaconic aciduria, four of whom were best categorized as having the type II syndrome, two as having an "unspecified" syndrome, and one who may have had a primary urea cycle defect. In cultured cells and autopsy tissues derived from patients with the type II and unspecified syndromes, we were unsuccessful in identifying a defect in the leucine degradative pathway distal to 3-methylcrotonyl-coenzyme A carboxylase and in the cholesterol biosynthetic pathway between 3-hydroxy-3-methylglutaryl-coenzyme A reductase and diphosphomevalonate decarboxylase. Further assessment of the cholesterol biosynthetic pathway in several patients with one of the two types of disease also provided no defined abnormality. The primary metabolic defects in the type II and unspecified syndromes remain undefined.


Subject(s)
Amino Acid Metabolism, Inborn Errors/urine , Glutarates/metabolism , Meglutol/analogs & derivatives , Amino Acid Metabolism, Inborn Errors/enzymology , Amino Acid Metabolism, Inborn Errors/genetics , Coenzyme A/metabolism , Glutarates/urine , Humans , Hydroxymethylglutaryl CoA Reductases , Meglutol/metabolism , Meglutol/urine , Phenotype
5.
Tree Physiol ; 8(1): 47-57, 1991 Jan.
Article in English | MEDLINE | ID: mdl-14972896

ABSTRACT

Measurements were made over four growing seasons of the Na(+) and Cl(-) content of leaves and woody tissues (twigs, branches, trunk and roots) of mature, fruit-bearing Prunus salicina Lindl. (on Marianna 2624 rootstock) trees irrigated during the growing season with water containing 3, 14 or 28 mM salt (2/1 molar ratio of NaCl and CaCl(2)). At the beginning of the study, the trees were 19 years old. Woody tissues of trees irrigated with water containing 14 or 28 mM salt accumulated Na(+) and Cl(-). Leaves of trees irrigated with water containing 14 or 28 mM salt accumulated Cl(-), but not Na(+), unless they had visible symptoms of salt injury. X-Ray microanalysis of leaf mesophyll cells indicated some ability of the cells to sequester Cl(-) in the vacuole. The data demonstrate a capacity for ion compartmentation among tissues and cell organelles in mature Prunus salicina, which may explain the ability of the species to survive low levels of salinity for several years in the field.

SELECTION OF CITATIONS
SEARCH DETAIL
...