Zobrazeno 1 - 10
of 22
pro vyhledávání: '"T. D. Palella"'
Publikováno v:
Purine and Pyrimidine Metabolism in Man VIII ISBN: 9781461361053
The aim of these studies was to establish the genetic basis of PRPP synthetase (PRS) superactivity, an X chromosome-linked disorder of purine metabolism characterized by gout, uric acid overproduction1, and, in some families, neurologic and/or develo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::81060123b7ecf9b7f152634882afc7c4
https://doi.org/10.1007/978-1-4615-2584-4_147
https://doi.org/10.1007/978-1-4615-2584-4_147
Publikováno v:
The Journal of biological chemistry. 268(35)
Superactivity of phosphoribosylpyrophosphate synthetase (PRS) is an X chromosome-linked disorder of purine metabolism, characterized by gout with uric acid overproduction and, in some families, neurodevelopmental impairment. Two highly homologous iso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::08b8c2e00ea28525270fa8fe89012155
https://pubmed.ncbi.nlm.nih.gov/8253776
https://pubmed.ncbi.nlm.nih.gov/8253776
Publikováno v:
American journal of human genetics. 48(5)
Complete hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency causes the Lesch-Nyhan syndrome, an X-linked, purine metabolism disorder manifested by hyperuricemia, hyperuricaciduria, and neurologic dysfunction. Partial HPRT deficiency cau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::298a089e061a485b95d87b13796566a0
https://pubmed.ncbi.nlm.nih.gov/2018042
https://pubmed.ncbi.nlm.nih.gov/2018042
Publikováno v:
Advances in experimental medicine and biology.
1. ECPR is a rapid and effective means for generating recombinant human HPRT. 2. The Bl21 (DE3) T7 polymerase/T7 promoter system provides high level expression of human HPRT constructs after induction of the T7 polymerase gene with IPTG. 3. Human HPR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::54169a0c5b5677ef44cd844e2d23ef64
https://pubmed.ncbi.nlm.nih.gov/1781351
https://pubmed.ncbi.nlm.nih.gov/1781351
Publikováno v:
Advances in experimental medicine and biology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e2aeba310e541d99c7db6a478cf94065
https://pubmed.ncbi.nlm.nih.gov/1664177
https://pubmed.ncbi.nlm.nih.gov/1664177
Autor:
M A, Becker, S A, Heidler, J M, Nosal, R L, Switzer, M M, LeBeau, L J, Shapiro, T D, Palella, B J, Roessler
Publikováno v:
Advances in experimental medicine and biology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a364a75194a88b7c6135fd4e64d2e180
https://pubmed.ncbi.nlm.nih.gov/1723569
https://pubmed.ncbi.nlm.nih.gov/1723569
Publikováno v:
Cancer research. 50(15)
Chronic perturbations of intracellular deoxyribonucleoside triphosphate (dNTP) pools have been associated with a mutator phenotype and increased mutation rates at several genetic loci. We have examined the specific effects of transient pharmacologica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a8b0025b037470ee1c7afcff74201d32
https://pubmed.ncbi.nlm.nih.gov/2369732
https://pubmed.ncbi.nlm.nih.gov/2369732
Publikováno v:
Journal of Biological Chemistry. 258:15021-15027
We studied deoxyadenosine and deoxyguanosine phosphorylating activities in human placental cytosol. The specific activities of nucleoside kinase enzymes in nanomoles per h per mg +/- SD were as follows: adenosine kinase, 30 +/- 14; deoxyadenosine kin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5aaafc63169ca56029156809eb64d649
https://doi.org/10.1016/s0021-9258(17)43766-5
https://doi.org/10.1016/s0021-9258(17)43766-5
Autor:
W N, Kelley, T D, Palella
Publikováno v:
Transactions of the American Clinical and Climatological Association. 99
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3cf30bcafd28326edbb925808d9a0bcd
https://pubmed.ncbi.nlm.nih.gov/3332518
https://pubmed.ncbi.nlm.nih.gov/3332518
Publikováno v:
Advances in experimental medicine and biology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d21ba6821146837aed63030f3fcd9d3f
https://pubmed.ncbi.nlm.nih.gov/2624223
https://pubmed.ncbi.nlm.nih.gov/2624223