{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,8]],"date-time":"2024-06-08T19:58:01Z","timestamp":1717876681469},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,9]],"date-time":"2005-06-09T00:00:00Z","timestamp":1118275200000},"content-version":"vor","delay-in-days":3657,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,6,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The storage material isolated from the brains of patients with infantile neuronal ceroid\u2010lipofuscinosis (INCL) contains, on average, 43% protein and 35% lipids on a dry weight basis. Recently we identified the major storage proteins as sphingolipid activator proteins (SAPs) A and D by direct sequencing. In the present study we used monospecific anti\u2010<jats:italic>sap<\/jats:italic>\u2010B\u2010, anti\u2010<jats:italic>sap<\/jats:italic>\u2010C, and anti\u2010<jats:italic>sap<\/jats:italic>\u2010D\u2010antisera in immunohistochemical and Western analyses to show that <jats:italic>sap<\/jats:italic>\u2010D is, indeed, an integral component of the storage bodies. In contrast, no (or little) immunoreactivity for <jats:italic>sap<\/jats:italic>\u2010B or <jats:italic>sap<\/jats:italic>\u2010C was detected in the INCL storage granules. This observation is of interest for an understanding of the pathogenesis because the four SAPs are produced from a single precursor protein by proteolytic cleavage.<\/jats:p><jats:p>Furthermore, we analysed the stored lipids on high performance thin layer chromatography combined with different staining techniques. In this preliminary analysis we found two glycosphingolipids, yet to be identified, to be common for all INCL patients. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320570236","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:01:48Z","timestamp":1118512908000},"page":"294-297","source":"Crossref","is-referenced-by-count":10,"title":["Sphingolipid activator proteins (SAPS) are stored together with glycosphingolipids in the infantile neuronal ceroid\u2010lipofuscinosis (INCL)"],"prefix":"10.1002","volume":"57","author":[{"given":"Jaana","family":"Tyynel\u00e4","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"Baumann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margarete","family":"Henseler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Konrad","family":"Sandhoff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matti","family":"Haltia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)40272-X"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"497509","DOI":"10.1016\/S0021-9258(18)64849-5","article-title":"A simple method for the isolation and purification of total lipides from animal tissues","volume":"226","author":"Folch J","year":"1957","journal-title":"J Biol Chem"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1515\/bchm3.1988.369.1.317"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2760(92)90210-M"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(73)90076-2"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1253"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1994.1612"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1462-5822.2007.00901.x"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00908a024"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(78)90586-9"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.9.3493"},{"key":"e_1_2_1_13_1","first-page":"7","volume-title":"Genetic Metabolic Diseases.","author":"Rapola J","year":"1993"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2760(76)90196-X"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1956.tb12053.x"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-3002(57)90254-8"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.76.9.4350"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(93)80908-D"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320570236","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320570236","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T15:19:10Z","timestamp":1698333550000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320570236"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,6,5]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,6,5]]}},"alternative-id":["10.1002\/ajmg.1320570236"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320570236","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,6,5]]}}}