{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:44:50Z","timestamp":1786977890674,"version":"build-2736575974"},"reference-count":30,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,3,18]],"date-time":"2013-03-18T00:00:00Z","timestamp":1363564800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IUBMB Life"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Phosphoribosyl pyrophosphate synthetase isoform 1 (PRS1) has an essential role in the\n                    <jats:italic>de novo<\/jats:italic>\n                    and salvage synthesis of human purine and pyrimidine nucleotides. The dysfunction of PRS1 will dramatically influence nucleotides' concentration in patient's body and lead to different kinds of disorders (such as hyperuricemia, gout and deafness). The D52H missense mutation of PRS1 will lead to a conspicuous phosphoribosyl pyrophosphate content elevation in the erythrocyte of patients and finally induce hyperuricemia and serious gout. In this study, the enzyme activity analysis indicated that D52H\u2010mutant possessed similar catalytic activity to the wild\u2010type PRS1, and the 2.27 \u00c5 resolution D52H\u2010mutant crystal structure revealed that the stable interaction network surrounding the 52 position of PRS1 would be completely destroyed by the substitution of histidine. These interaction variations would further influence the conformation of ADP\u2010binding pocket of D52H\u2010mutant and reduced the inhibitor sensitivity of PRS1 in patient's body. \u00a9 2013 IUBMB Life, 65(6):518\u2013525, 2013.\n                  <\/jats:p>","DOI":"10.1002\/iub.1154","type":"journal-article","created":{"date-parts":[[2013,3,18]],"date-time":"2013-03-18T09:53:17Z","timestamp":1363600397000},"page":"518-525","source":"Crossref","is-referenced-by-count":20,"title":["A small disturbance, but a serious disease: The possible mechanism of D52H\u2010mutant of human PRS1 that causes gout"],"prefix":"10.1002","volume":"65","author":[{"given":"Peng","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianzhong","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maikun","family":"Teng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xu","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,3,18]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)45500-2"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.33.19894"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20061066"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.02.024"},{"key":"e_1_2_5_6_2","doi-asserted-by":"crossref","first-page":"1839","DOI":"10.1016\/S0021-9258(19)69884-4","article-title":"Inhibition of phosphoribosylpyrophosphate synthesis in human fibroblasts by 6\u2010methylthioinosinate","volume":"256","author":"Yen R. 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