{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T06:46:33Z","timestamp":1792219593992,"version":"4.4.0"},"reference-count":66,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2001,10,1]],"date-time":"2001-10-01T00:00:00Z","timestamp":1001894400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["faseb.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The FASEB Journal"],"published-print":{"date-parts":[[2001,10]]},"abstract":"<jats:p>\n                    Various types of oculocutaneous albinism (OCA) are associated with reduced pigmentation in the skin, hair, and eyes that results from mutations in genes involved in melanin synthesis. Immortal mouse melanocyte lines (melan\u2010a, melan\u2010b, and melan\u2010c) provide opportune models with which to investigate the etiology of two different types of OCA(types I and III), which arise from mutations in\n                    <jats:italic>Tyr<\/jats:italic>\n                    and\n                    <jats:italic>Tyrpl<\/jats:italic>\n                    , respectively. We compared intracellular processing, sorting, and degradation of tyrosinase and Tyrp1, and the effects on their catalytic function and melanin synthesis, in these wild\u2010type and mutant melanocytes. A mutation in either Tyr or Tyrp1 increased the time of association of tyrosinase and Tyrpl with calnexin and Bip, which in turn resulted in the retention of these mutant products in the ER. A mutation in either gene selectively enhanced the duration and efficiency of chaperone interactions (even with the wild\u2010type protein in the mutant melanocytes) and markedly slowed their transport to melanosomes. These results show that OCA1 and OCA3 are (in some cases, at least) ER retention diseases wherein a mutation in one melano\u2010genic protein affects the maturation and stability of the other in the melanogenic pathway.\u2014Toyofuku, K., Wada, I., Valencia, J. C., Kushimoto, T., Ferrans, V. J., Hearing, V. J. Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild\u2010type proteins.\n                    <jats:italic>FASEB J.<\/jats:italic>\n                    15, 2149\u20132161 (2001)\n                  <\/jats:p>","DOI":"10.1096\/fj.01-0216com","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T19:03:10Z","timestamp":1027710190000},"page":"2149-2161","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":152,"title":["Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild\u2010type proteins"],"prefix":"10.1096","volume":"15","author":[{"given":"Kazutomo","family":"Toyofuku","sequence":"first","affiliation":[{"name":"Laboratory of Cell Biology National Cancer Institute National Institutes of Health Bethesda Maryland 20892 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikuo","family":"Wada","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Sapporo Medical University Sapporo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julio C.","family":"Valencia","sequence":"additional","affiliation":[{"name":"Pathology Section National Heart Lung and Blood Institute National Institutes of Health Bethesda Maryland 20892 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsuneto","family":"Kushimoto","sequence":"additional","affiliation":[{"name":"Laboratory of Cell Biology National Cancer Institute National Institutes of Health Bethesda Maryland 20892 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor J.","family":"Ferrans","sequence":"additional","affiliation":[{"name":"Pathology Section National Heart Lung and Blood Institute National Institutes of Health Bethesda Maryland 20892 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent J.","family":"Hearing","sequence":"additional","affiliation":[{"name":"Laboratory of Cell Biology National Cancer Institute National Institutes of Health Bethesda Maryland 20892 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2001,10]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4757-9062-7_1"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4612-6164-3"},{"key":"e_1_2_5_5_1","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1093\/oso\/9780198548690.003.0002","volume-title":"Genetic Variants and Strains of the Laboratory Mouse","author":"Doolittle D. 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