{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T04:30:31Z","timestamp":1790656231340,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R01 DC05575"],"award-info":[{"award-number":["R01 DC05575"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R01 DC01246"],"award-info":[{"award-number":["R01 DC01246"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R01 DC012115"],"award-info":[{"award-number":["R01 DC012115"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R01 DC05575"],"award-info":[{"award-number":["R01 DC05575"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R01 DC01246"],"award-info":[{"award-number":["R01 DC01246"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R01 DC012115"],"award-info":[{"award-number":["R01 DC012115"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R01 DC05575"],"award-info":[{"award-number":["R01 DC05575"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R01 DC01246"],"award-info":[{"award-number":["R01 DC01246"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R01 DC012115"],"award-info":[{"award-number":["R01 DC012115"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Disease Markers"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>\n                    <jats:italic>Phosphoribosylpyrophosphate synthetase 1<\/jats:italic>\n                    (\n                    <jats:italic>PRPS1<\/jats:italic>\n                    ) codes for PRS-I enzyme that catalyzes the first step of nucleotide synthesis.\n                    <jats:italic>PRPS1<\/jats:italic>\n                    gene mutations have been implicated in a number of human diseases. Recently, new mutations in\n                    <jats:italic>PRPS1<\/jats:italic>\n                    have been identified that have been associated with novel phenotypes like diabetes insipidus expanding the spectrum of\n                    <jats:italic>PRPS1<\/jats:italic>\n                    -related diseases. The purpose of this review is to evaluate current literature on\n                    <jats:italic>PRPS1<\/jats:italic>\n                    -related syndromes and summarize potential therapies. The overexpression of\n                    <jats:italic>PRPS1<\/jats:italic>\n                    results in PRS-I superactivity resulting in purine overproduction. Patients with PRS-I superactivity demonstrate uric acid overproduction, hypotonia, ataxia, neurodevelopment abnormalities, and postlingual hearing impairment. On the other hand, decreased activity leads to X-linked nonsyndromic sensorineural deafness (DFNX-2), Charcot-Marie-Tooth disease-5 (CMTX5), and Arts syndrome depending on the residual activity of PRS-I. Mild PRS-I deficiency (DFNX-2) results in non-syndromic progressive hearing loss whereas moderate PRS-I deficiency (CMTX5) and severe PRS-I deficiency (Arts syndrome) present with peripheral or optic neuropathy, prelingual progressive sensorineural hearing loss, and central nervous system impairment. Currently, purine replacement via S-adenosylmethionine (SAM) supplementation in patients with Arts syndrome appears to improve their condition. This suggests that SAM supplementation can alleviate symptoms of\n                    <jats:italic>PRPS1<\/jats:italic>\n                    deficient patients and open new avenues of therapeutic intervention.\n                  <\/jats:p>","DOI":"10.1155\/2015\/127013","type":"journal-article","created":{"date-parts":[[2015,5,25]],"date-time":"2015-05-25T08:09:31Z","timestamp":1432541371000},"page":"1-7","source":"Crossref","is-referenced-by-count":59,"title":["Association of\n                    <i>PRPS1<\/i>\n                    Mutations with Disease Phenotypes"],"prefix":"10.1155","volume":"2015","author":[{"given":"Rahul","family":"Mittal","sequence":"first","affiliation":[{"name":"Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunal","family":"Patel","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeenu","family":"Mittal","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brandon","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u2019hamed","family":"Grati","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue Zhong","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA"},{"name":"Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA"},{"name":"Department of Biochemistry, University of Miami Miller School of Medicine, Miami, FL 33136, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.02.024"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1002\/iub.1154"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.3109\/14992027.2012.736032"},{"issue":"2","key":"4","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/S0021-9258(18)64782-9","volume":"233","year":"1958","journal-title":"The Journal of Biological 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