{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T02:34:01Z","timestamp":1790303641420,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,8,2]],"date-time":"2012-08-02T00:00:00Z","timestamp":1343865600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2012,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Hermansky\u2013Pudlak Syndrome (HPS) is a genetically heterogeneous disorder of lysosome\u2010related organelle biogenesis and is characterized by oculocutaneous albinism and a bleeding diathesis. Over the past decade, we screened 250 patients with HPS\u2010like symptoms for mutations in the genes responsible for HPS subtypes 1\u20136. We identified 38 individuals with no functional mutations, and therefore, we analyzed all eight genes encoding the biogenesis of lysosome\u2010related organelles complex\u20101 (BLOC\u20101) proteins in these individuals. Here, we describe the identification of a novel nonsense mutation in <jats:italic>BLOC1S3<\/jats:italic> (HPS\u20108) in a 6\u2010yr\u2010old Iranian boy. This mutation caused nonsense\u2010mediated decay of <jats:italic>BLOC1S3<\/jats:italic> mRNA and destabilized the BLOC\u20101 complex. Our patient\u2019s melanocytes showed aberrant localization of TYRP1, with increased plasma membrane trafficking. These findings confirm a common cellular defect for HPS patients with defects in BLOC\u20101 subunits. We identified only two patients with BLOC\u20101 defects in our cohort, suggesting that other HPS genes remain to be identified.<\/jats:p>","DOI":"10.1111\/j.1755-148x.2012.01029.x","type":"journal-article","created":{"date-parts":[[2012,6,18]],"date-time":"2012-06-18T19:31:49Z","timestamp":1340047909000},"page":"584-591","source":"Crossref","is-referenced-by-count":35,"title":["A BLOC\u20101 mutation screen reveals a novel <i>BLOC1S3<\/i> mutation in Hermansky\u2013Pudlak Syndrome type 8"],"prefix":"10.1111","volume":"25","author":[{"given":"Andrew R.","family":"Cullinane","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James A.","family":"Curry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gretchen","family":"Golas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Pan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmelo","family":"Carmona\u2010Rivera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Hess","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James G.","family":"White","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjan","family":"Huizing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,8,2]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng576"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.12.10.2907"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.009"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80170-7"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M204011200"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.9.081307.164303"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.325746"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1229"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/bies.20042"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1006\/meth.2001.1262"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm1310"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M301294200"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/499338"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0854.2002.30908.x"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-300"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.152.4.809"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E06-12-1066"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng835"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0749.2005.00289.x"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1087"}],"container-title":["Pigment Cell &amp; Melanoma Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1755-148X.2012.01029.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1755-148X.2012.01029.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,14]],"date-time":"2023-10-14T01:36:11Z","timestamp":1697247371000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1755-148X.2012.01029.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8,2]]},"references-count":20,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,9]]}},"alternative-id":["10.1111\/j.1755-148X.2012.01029.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1755-148x.2012.01029.x","archive":["Portico"],"relation":{},"ISSN":["1755-1471","1755-148X"],"issn-type":[{"value":"1755-1471","type":"print"},{"value":"1755-148X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,8,2]]}}}