Increased phosphoribosylpyrophosphate synthetase activity in fibroblasts of hypoxanthine-guanine phosphoribosyl transferase deficient patients
An increased activity of phosphoribosylpyrophosphate synthetase at physiological levels of inorganic phosphate is demonstrated in extracts of skin fibroblast cultures derived from a patient with Lesch-Nyhan syndrome. This eccessive response of the phosphoribosylpyrophosphate synthetase at physiologi...
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| Veröffentlicht in: | Biochemical and biophysical research communications 1979-03, Vol.87 (2), p.380-387 |
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| container_title | Biochemical and biophysical research communications |
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| creator | Torrelio, B.Marina Paz, Mercedes A. |
| description | An increased activity of phosphoribosylpyrophosphate synthetase at physiological levels of inorganic phosphate is demonstrated in extracts of skin fibroblast cultures derived from a patient with Lesch-Nyhan syndrome. This eccessive response of the phosphoribosylpyrophosphate synthetase at physiological levels of inorganic phosphate results in increased levels of phosphoribosylpyrophosphate and thus contributes to purine overproduction characteristic of this disorder. The level of enzyme response in skin fibroblast extracts from the carrier mother was between activity of the patient and normals, further suggesting the x-linkage of human phosphoribosylpyrophosphate synthetase. |
| doi_str_mv | 10.1016/0006-291X(79)91807-2 |
| format | Article |
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This eccessive response of the phosphoribosylpyrophosphate synthetase at physiological levels of inorganic phosphate results in increased levels of phosphoribosylpyrophosphate and thus contributes to purine overproduction characteristic of this disorder. The level of enzyme response in skin fibroblast extracts from the carrier mother was between activity of the patient and normals, further suggesting the x-linkage of human phosphoribosylpyrophosphate synthetase.</description><identifier>ISSN: 0006-291X</identifier><identifier>EISSN: 1090-2104</identifier><identifier>DOI: 10.1016/0006-291X(79)91807-2</identifier><identifier>PMID: 220971</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Cell Division ; Cells, Cultured ; Female ; Fibroblasts ; Humans ; Hypoxanthine Phosphoribosyltransferase - deficiency ; Lesch-Nyhan Syndrome - enzymology ; Male ; Phosphotransferases - metabolism ; Ribose-Phosphate Pyrophosphokinase - metabolism ; Skin - enzymology</subject><ispartof>Biochemical and biophysical research communications, 1979-03, Vol.87 (2), p.380-387</ispartof><rights>1979</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c356t-9918bf8e3e34bb1871b83c5621d3fdfa0b34cc95ddec7285a7e3f99861536bb73</citedby><cites>FETCH-LOGICAL-c356t-9918bf8e3e34bb1871b83c5621d3fdfa0b34cc95ddec7285a7e3f99861536bb73</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/0006-291X(79)91807-2$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,778,782,3539,27913,27914,45984</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/220971$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Torrelio, B.Marina</creatorcontrib><creatorcontrib>Paz, Mercedes A.</creatorcontrib><title>Increased phosphoribosylpyrophosphate synthetase activity in fibroblasts of hypoxanthine-guanine phosphoribosyl transferase deficient patients</title><title>Biochemical and biophysical research communications</title><addtitle>Biochem Biophys Res Commun</addtitle><description>An increased activity of phosphoribosylpyrophosphate synthetase at physiological levels of inorganic phosphate is demonstrated in extracts of skin fibroblast cultures derived from a patient with Lesch-Nyhan syndrome. This eccessive response of the phosphoribosylpyrophosphate synthetase at physiological levels of inorganic phosphate results in increased levels of phosphoribosylpyrophosphate and thus contributes to purine overproduction characteristic of this disorder. The level of enzyme response in skin fibroblast extracts from the carrier mother was between activity of the patient and normals, further suggesting the x-linkage of human phosphoribosylpyrophosphate synthetase.</description><subject>Cell Division</subject><subject>Cells, Cultured</subject><subject>Female</subject><subject>Fibroblasts</subject><subject>Humans</subject><subject>Hypoxanthine Phosphoribosyltransferase - deficiency</subject><subject>Lesch-Nyhan Syndrome - enzymology</subject><subject>Male</subject><subject>Phosphotransferases - metabolism</subject><subject>Ribose-Phosphate Pyrophosphokinase - metabolism</subject><subject>Skin - enzymology</subject><issn>0006-291X</issn><issn>1090-2104</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1979</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kc1u1TAQhS1EgUvhDbrwCtFFwD9JHG-QqgpKpUrdFImd5Z8x1yg3DrZvRV6iz4xDqi5YsBgdaebMJ80ZhM4o-UAJ7T8SQvqGSfr9vZDnkg5ENOwZ2lEiScMoaZ-j3ZPlFXqd809CKG17-RK9YIxIQXfo4XqyCXQGh-d9zLVSMDEv47ykuHV0AZyXqeyhVB_WtoT7UBYcJuyDSdGMOpeMo8f7ZY6_dXWGCZofRz1V_QeLS9JT9pBWlAMfbICp4FmXVfMbdOL1mOHto56ib18-311-bW5ur64vL24ay7u-NLJea_wAHHhrDB0ENQO3Xc-o4955TQxvrZWdc2AFGzotgHsph552vDdG8FP0buPOKf46Qi7qELKFcdQTxGNWou0kY4OsxnYz2hRzTuDVnMJBp0VRotYvqDVitUashFR_v6BYXTt75B_NAdzT0hZ7HX_axlBvvA-QVF5zsOBCAluUi-H__D9k6J0d</recordid><startdate>19790330</startdate><enddate>19790330</enddate><creator>Torrelio, B.Marina</creator><creator>Paz, Mercedes A.</creator><general>Elsevier Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19790330</creationdate><title>Increased phosphoribosylpyrophosphate synthetase activity in fibroblasts of hypoxanthine-guanine phosphoribosyl transferase deficient patients</title><author>Torrelio, B.Marina ; Paz, Mercedes A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c356t-9918bf8e3e34bb1871b83c5621d3fdfa0b34cc95ddec7285a7e3f99861536bb73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1979</creationdate><topic>Cell Division</topic><topic>Cells, Cultured</topic><topic>Female</topic><topic>Fibroblasts</topic><topic>Humans</topic><topic>Hypoxanthine Phosphoribosyltransferase - deficiency</topic><topic>Lesch-Nyhan Syndrome - enzymology</topic><topic>Male</topic><topic>Phosphotransferases - metabolism</topic><topic>Ribose-Phosphate Pyrophosphokinase - metabolism</topic><topic>Skin - enzymology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Torrelio, B.Marina</creatorcontrib><creatorcontrib>Paz, Mercedes A.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Biochemical and biophysical research communications</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Torrelio, B.Marina</au><au>Paz, Mercedes A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Increased phosphoribosylpyrophosphate synthetase activity in fibroblasts of hypoxanthine-guanine phosphoribosyl transferase deficient patients</atitle><jtitle>Biochemical and biophysical research communications</jtitle><addtitle>Biochem Biophys Res Commun</addtitle><date>1979-03-30</date><risdate>1979</risdate><volume>87</volume><issue>2</issue><spage>380</spage><epage>387</epage><pages>380-387</pages><issn>0006-291X</issn><eissn>1090-2104</eissn><abstract>An increased activity of phosphoribosylpyrophosphate synthetase at physiological levels of inorganic phosphate is demonstrated in extracts of skin fibroblast cultures derived from a patient with Lesch-Nyhan syndrome. This eccessive response of the phosphoribosylpyrophosphate synthetase at physiological levels of inorganic phosphate results in increased levels of phosphoribosylpyrophosphate and thus contributes to purine overproduction characteristic of this disorder. The level of enzyme response in skin fibroblast extracts from the carrier mother was between activity of the patient and normals, further suggesting the x-linkage of human phosphoribosylpyrophosphate synthetase.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>220971</pmid><doi>10.1016/0006-291X(79)91807-2</doi><tpages>8</tpages></addata></record> |
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| ispartof | Biochemical and biophysical research communications, 1979-03, Vol.87 (2), p.380-387 |
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| language | eng |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Cell Division Cells, Cultured Female Fibroblasts Humans Hypoxanthine Phosphoribosyltransferase - deficiency Lesch-Nyhan Syndrome - enzymology Male Phosphotransferases - metabolism Ribose-Phosphate Pyrophosphokinase - metabolism Skin - enzymology |
| title | Increased phosphoribosylpyrophosphate synthetase activity in fibroblasts of hypoxanthine-guanine phosphoribosyl transferase deficient patients |
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