{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T23:10:18Z","timestamp":1699830618547},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":10014,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1978,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Bone marrow fibroblasts were cultured from two patients with fucosidosis type 2, six control subjects, and three patients with other lysosomal disorders. Optimal conditions for measuring \u03b1\u2010L\u2010fucosidase activity in lysates of these cells with the fluorogenic substrate 4\u2010methylumbelliferyl\u2010\u03b1\u2010L\u2010fucoside were established. The pH profile of normal bone marrow fibroblasts showed three peaks and a shoulder of enzymatic activity, with maximum activity at pH 4.75. In cells derived from fucosidosis patients two peaks of apparent \u03b1\u2010L\u2010fucosidase activity were obtained; the pH optimum was 4.5. \u03b1\u2010L\u2010Fucosidase activity (mean \u00b1 SD) in the fucosidosis and control bone marrow fibroblasts was 2.5 and 312.4 \u00b1 10.9 nmoles 4\u2010methylumbelliferone per milligram protein per hour, respectively. A reduction in the apparent specific enzymatic activity in the fucosidosis cells was observed by using increasing concentrations of cellular protein in the assay system. Mixing experiments between normal and fucosidosis cells gave the expected activities. These findings indicate that cultured bone marrow fibroblasts can be used for the diagnosis and study of fucosidosis.<\/jats:p>","DOI":"10.1002\/ajmg.1320020105","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:28:41Z","timestamp":1118510921000},"page":"23-29","source":"Crossref","is-referenced-by-count":3,"title":["\u03b1\u2010L\u2010fucosidase in cultured bone marrow fibroblasts from fucosidosis patients"],"prefix":"10.1002","volume":"2","author":[{"given":"Nicholas G.","family":"Beratis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kurt","family":"Hirschhorn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1968.tb19570.x"},{"key":"e_1_2_1_3_2","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1542\/peds.57.2.205","article-title":"Fucosidosis type 2","volume":"57","author":"Kouseff BG","year":"1976","journal-title":"Pediatrics"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1620\/tjem.109.41"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197107082850219"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(75)80455-4"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278928"},{"key":"e_1_2_1_8_2","unstructured":"CantzM: Personal communication 1977."},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(69)80464-6"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80019-3"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(73)91112-4"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(73)93352-7"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(77)91175-8"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1910.04330160047018"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(69)90777-3"},{"key":"e_1_2_1_16_2","first-page":"49","article-title":"Arylsulfatase A deficiency in bone marrow fibroblasts of two different forms of metachromatic leukodystrophy","volume":"84","author":"Beratis NG","year":"1974","journal-title":"J Lab Clin Med"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197707000-00017"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80135-1"},{"key":"e_1_2_1_19_2","first-page":"37","article-title":"Adult Gaucher's disease: Kindred studies and demonstration of a deficiency of acid \u03b2\u2010glucosidase in cultured fibroblasts","volume":"24","author":"Ho MW","year":"1972","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)52451-6"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2744(76)90301-6"},{"key":"e_1_2_1_22_2","doi-asserted-by":"crossref","first-page":"7106","DOI":"10.1016\/S0021-9258(19)40915-0","article-title":"Human liver \u03b1\u2010L\u2010fucosidase: Purification, characterization, and immunochemical studies","volume":"250","author":"Alhadeff JA","year":"1975","journal-title":"J Biol Chem"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320020105","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320020105","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T22:43:35Z","timestamp":1699829015000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320020105"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,1]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1978,1]]}},"alternative-id":["10.1002\/ajmg.1320020105"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320020105","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1978,1]]}}}