{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T03:45:56Z","timestamp":1790826356280,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2012,6,14]],"date-time":"2012-06-14T00:00:00Z","timestamp":1339632000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Immunol"],"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:p>Invariant natural killer <jats:styled-content style=\"fixed-case\">T<\/jats:styled-content> (i<jats:styled-content style=\"fixed-case\">NKT<\/jats:styled-content>) cells are a specialised subset of <jats:styled-content style=\"fixed-case\">T<\/jats:styled-content> cells that are restricted to the <jats:styled-content style=\"fixed-case\">MHC<\/jats:styled-content> class <jats:styled-content style=\"fixed-case\">I<\/jats:styled-content> like molecule, <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>1d. The ligands for i<jats:styled-content style=\"fixed-case\">NKT<\/jats:styled-content> cells are lipids, with the canonical superagonist being \u03b1\u2010galactosylceramide, a non\u2010mammalian glycosphingolipid. Trafficking of <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>1d through the lysosome is required for the development of murine i<jats:styled-content style=\"fixed-case\">NKT<\/jats:styled-content> cells. Niemann\u2010<jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>ick type <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">NPC<\/jats:styled-content>) disease is a lysosomal storage disorder caused by dysfunction in either of two lysosomal proteins, <jats:styled-content style=\"fixed-case\">NPC<\/jats:styled-content>1 or <jats:styled-content style=\"fixed-case\">NPC<\/jats:styled-content>2, resulting in the storage of multiple lipids, including glycosphingolipids. In the <jats:styled-content style=\"fixed-case\">NPC<\/jats:styled-content>1 mouse model, i<jats:styled-content style=\"fixed-case\">NKT<\/jats:styled-content> cells are virtually undetectable, which is likely due to the inability of <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>1d to be loaded with the selecting ligand due to defective lysosomal function and\/or <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>1d trafficking. However, in this study we have found that in <jats:styled-content style=\"fixed-case\">NPC<\/jats:styled-content>1 patients i<jats:styled-content style=\"fixed-case\">NKT<\/jats:styled-content> cells are present at normal frequencies, with no phenotypic or functional differences. In addi\u2010tion, antigen\u2010presenting cells derived from <jats:styled-content style=\"fixed-case\">NPC<\/jats:styled-content>1 patients are functionally competent to present several different <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>1d\/i<jats:styled-content style=\"fixed-case\">NKT<\/jats:styled-content>\u2010cell ligands. This further supports the hypothesis that there are different trafficking requirements for the development of murine and human i<jats:styled-content style=\"fixed-case\">NKT<\/jats:styled-content> cells, and a functional lysosomal\/late\u2010endosomal compartment is not required for human i<jats:styled-content style=\"fixed-case\">NKT<\/jats:styled-content>\u2010cell development.<\/jats:p>","DOI":"10.1002\/eji.201141821","type":"journal-article","created":{"date-parts":[[2012,5,14]],"date-time":"2012-05-14T12:52:16Z","timestamp":1336999936000},"page":"1886-1892","source":"Crossref","is-referenced-by-count":14,"title":["Invariant natural killer <scp>T<\/scp> cells are not affected by lysosomal storage in patients with <scp>N<\/scp>iemann\u2010<scp>P<\/scp>ick disease type <scp>C<\/scp>"],"prefix":"10.1002","volume":"42","author":[{"given":"Anneliese O.","family":"Speak","sequence":"first","affiliation":[{"name":"Department of Pharmacology University of Oxford  Oxford 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