{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T03:10:31Z","timestamp":1791429031619,"version":"4.3.3"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":4664,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1992,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cyclic AMP (cAMP) metabolism was studied in platelets from a series of 14 patients with fragile X syndrome (fra X) and 21 control individuals. 1\u2010Isobutyl\u20103\u2010methylxanthine was used to inhibit phosphodiesterase and thus measure cAMP production, prostaglandin E<jats:sub>1<\/jats:sub> was used to assess receptor\u2010mediated cAMP accumulation, and forskolin was used to directly stimulate the catalytic subunit. In patients with fra X, basal production was 63% of that of control subjects (<jats:italic>p<\/jats:italic> = 0.019). Prostaglandin E<jats:sub>1<\/jats:sub>\u2013 and forskalin\u2010stimulated production were 61% (<jats:italic>p<\/jats:italic> = 0.039) and 56% (<jats:italic>p<\/jats:italic> = 0.012) of that of control subjects, respectively. cAMP production in 8 patients with fra X overlapped the control range, whereas measures of production in 6 patients formed a cluster with values lower than any of the 21 control subjects assayed, suggesting possible biochemical heterogeneity within patients with fra X. Results obtained from the group of patients with fra X suggest possible abnormal function or regulation of the catalytic subunit of adenylate cyclase in at least a subgroup of patients with fra X. Variability of biochemical findings in patients with fra X may reflect the known high variability of the clinical syndrome.<\/jats:p>","DOI":"10.1002\/ana.410310105","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T12:08:17Z","timestamp":1104581297000},"page":"22-26","source":"Crossref","is-referenced-by-count":69,"title":["Cyclic AMP metabolism in fragile X syndrome"],"prefix":"10.1002","volume":"31","author":[{"given":"Elizabeth","family":"Berry\u2010Kravis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter R.","family":"Huttenlocher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bi.56.070187.003151"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.2841758"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.6289442"},{"key":"e_1_2_1_5_2","first-page":"343","article-title":"Cyclic AMP and learning in Drosophila","volume":"20","author":"Dudia Y","year":"1986","journal-title":"Adv Cyclic Nucleotide Protein Phosphorylation Res"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.78.5.3098"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199005173222002"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-105-2-197"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00314402"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-3223(90)90652-I"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90397-H"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90514-Y"},{"key":"e_1_2_1_13_2","first-page":"680","article-title":"Inhibition of aggregation and stimulation of cyclic AMP generation by the diterpene forskolin in intact human platelets","volume":"21","author":"Seigl AM","year":"1982","journal-title":"Mol Pharmacol"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(74)31015-4"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.79.13.4193"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)52451-6"},{"key":"e_1_2_1_17_2","first-page":"1","article-title":"Radioimmunoassay of cyclic AMP and cyclic GMP","volume":"10","author":"Brooker G","year":"1979","journal-title":"Adv Cyclic Nucleotide Res"},{"key":"e_1_2_1_18_2","first-page":"1","article-title":"Forskolin: its biological and chemical properties","volume":"20","author":"Seamon KB","year":"1986","journal-title":"Adv Cyclic Nucleotide Protein Phosphorylation Res"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.2255909"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.7.2795"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/117.3.587"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90125-I"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380256"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410310105","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410310105","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T17:36:24Z","timestamp":1698168984000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410310105"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,1]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1992,1]]}},"alternative-id":["10.1002\/ana.410310105"],"URL":"https:\/\/doi.org\/10.1002\/ana.410310105","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,1]]}}}