Human adenine phosphoribosyltransferase: Characterization from subjects with a deficiency of enzyme activity
dc.contributor.author | Gault, M. Henry | en_US |
dc.contributor.author | O'Toole, Timothy E. | en_US |
dc.contributor.author | Wilson, James M. | en_US |
dc.contributor.author | Kelley, William N. | en_US |
dc.date.accessioned | 2006-09-11T14:21:22Z | |
dc.date.available | 2006-09-11T14:21:22Z | |
dc.date.issued | 1983-12 | en_US |
dc.identifier.citation | O'Toole, Timothy E.; Wilson, James M.; Gault, M. Henry; Kelley, William N.; (1983). "Human adenine phosphoribosyltransferase: Characterization from subjects with a deficiency of enzyme activity." Biochemical Genetics 21 (11-12): 1121-1134. <http://hdl.handle.net/2027.42/44148> | en_US |
dc.identifier.issn | 1573-4927 | en_US |
dc.identifier.issn | 0006-2928 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/44148 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=6670989&dopt=citation | en_US |
dc.description.abstract | Adenine phosphoribosyltransferase (APRT) was characterized with respect to specific activity and immunoreactive protein (CRM) levels in hemolysate from 18 members of an APRT-deficient kindred. In addition, lymphoblastoid cell lines were established from six of these subjects and APRT from these cells was characterized in a similar fashion. Levels of specific activity and CRM in patients homozygous for the deficiency were less than 1% of normal. Heterozygous subjects had higher levels of activity and CRM in lymphoblasts than in erythrocytes and, in all cases, the APRT present was normal in terms of isoelectric point, subunit molecular weight, and heat stability. The higher levels of activity and CRM found in lymphoblasts may be due either to expression of a mutant gene product stabilized in a normal:mutant dimer or to autologous regulation. | en_US |
dc.format.extent | 627598 bytes | |
dc.format.extent | 3115 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Kluwer Academic Publishers-Plenum Publishers; Plenum Publishing Corporation ; Springer Science+Business Media | en_US |
dc.subject.other | Lymphoblastoid Cells | en_US |
dc.subject.other | Biomedicine | en_US |
dc.subject.other | Human Genetics | en_US |
dc.subject.other | Medical Microbiology | en_US |
dc.subject.other | Biochemistry, General | en_US |
dc.subject.other | Zoology | en_US |
dc.subject.other | Adenine Phosphoribesyltransferase (APRT) Deficiency | en_US |
dc.subject.other | Protein Blotting | en_US |
dc.subject.other | Inborn Errors of Metabolism | en_US |
dc.title | Human adenine phosphoribosyltransferase: Characterization from subjects with a deficiency of enzyme activity | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Ecology and Evolutionary Biology | en_US |
dc.subject.hlbsecondlevel | Molecular, Cellular and Developmental Biology | en_US |
dc.subject.hlbsecondlevel | Natural Resources and Environment | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Departments of Internal Medicine and Biological Chemistry, Human Purine Research Center, University of Michigan Medical School, 48109, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Departments of Internal Medicine and Biological Chemistry, Human Purine Research Center, University of Michigan Medical School, 48109, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Departments of Internal Medicine and Biological Chemistry, Human Purine Research Center, University of Michigan Medical School, 48109, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationother | Health Sciences Center, Department of Medicine, Memorial University of New Foundland, St. Johns, New Foundland | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 6670989 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/44148/1/10528_2004_Article_BF00488464.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/BF00488464 | en_US |
dc.identifier.source | Biochemical Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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