{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T23:55:35Z","timestamp":1793663735816,"version":"4.5.1"},"reference-count":44,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100002855","name":"Ministry of Science and Technology of the People&apos;s Republic of China","doi-asserted-by":"publisher","award":["2020YFA0112500"],"award-info":[{"award-number":["2020YFA0112500"]}],"id":[{"id":"10.13039\/501100002855","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002855","name":"Ministry of Science and Technology of the People&apos;s Republic of China","doi-asserted-by":"publisher","award":["2021YFA1101300"],"award-info":[{"award-number":["2021YFA1101300"]}],"id":[{"id":"10.13039\/501100002855","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2025,1]]},"DOI":"10.1016\/j.gene.2024.148907","type":"journal-article","created":{"date-parts":[[2024,8,30]],"date-time":"2024-08-30T16:43:17Z","timestamp":1725036197000},"page":"148907","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["The degradation of TYR variants derived from Chinese OCA families is mediated by the ERAD and ERLAD pathway"],"prefix":"10.1016","volume":"932","author":[{"given":"Xinyao","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kangyu","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunlong","family":"Meng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianjun","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zilin","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.gene.2024.148907_b0005","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1016\/j.molcel.2019.03.034","article-title":"TEX264 is an endoplasmic reticulum-resident ATG8-interacting protein critical for ER remodeling during nutrient stress","volume":"74","author":"An","year":"2019","journal-title":"Mol. Cell"},{"issue":"4","key":"10.1016\/j.gene.2024.148907_b0010","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1038\/sj.jid.5700683","article-title":"Approaches to identify inhibitors of melanin biosynthesis via the quality control of tyrosinase","volume":"127","author":"Ando","year":"2007","journal-title":"J. Invest. Dermatol."},{"issue":"10","key":"10.1016\/j.gene.2024.148907_b0015","doi-asserted-by":"crossref","first-page":"4428","DOI":"10.3390\/ijms10104428","article-title":"Role of the ubiquitin proteasome system in regulating skin pigmentation","volume":"10","author":"Ando","year":"2009","journal-title":"Int. J. Mol. Sci."},{"issue":"16","key":"10.1016\/j.gene.2024.148907_b0020","doi-asserted-by":"crossref","first-page":"12281","DOI":"10.1074\/jbc.275.16.12281","article-title":"A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature","volume":"275","author":"Berson","year":"2000","journal-title":"J. Biol. Chem."},{"issue":"1","key":"10.1016\/j.gene.2024.148907_b0025","doi-asserted-by":"crossref","first-page":"2370","DOI":"10.1038\/s41467-019-10345-3","article-title":"Curvature induction and membrane remodeling by FAM134B reticulon homology domain assist selective ER-phagy","volume":"10","author":"Bhaskara","year":"2019","journal-title":"Nat. Commun."},{"issue":"3","key":"10.1016\/j.gene.2024.148907_b0030","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1006\/bbrc.1999.1030","article-title":"Tyrosinase folding and copper loading in vivo: a crucial role for calnexin and alpha-glucosidase II","volume":"261","author":"Branza-Nichita","year":"1999","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"11","key":"10.1016\/j.gene.2024.148907_b0035","doi-asserted-by":"crossref","first-page":"8169","DOI":"10.1074\/jbc.275.11.8169","article-title":"Mutations at critical N-glycosylation sites reduce tyrosinase activity by altering folding and quality control","volume":"275","author":"Branza-Nichita","year":"2000","journal-title":"J. Biol. Chem."},{"issue":"5","key":"10.1016\/j.gene.2024.148907_b0040","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1016\/j.molcel.2019.03.033","article-title":"Intrinsically disordered protein TEX264 mediates ER-phagy","volume":"74","author":"Chino","year":"2019","journal-title":"Mol. Cell"},{"key":"10.1016\/j.gene.2024.148907_b0045","unstructured":"Federico, J. R., & Krishnamurthy, K. (2023). Albinism. In StatPearls. StatPearls Publishing Copyright \u00a9 2023, StatPearls Publishing LLC."},{"issue":"7964","key":"10.1016\/j.gene.2024.148907_b0050","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/s41586-023-06090-9","article-title":"Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy","volume":"618","author":"Foronda","year":"2023","journal-title":"Nature"},{"issue":"2","key":"10.1016\/j.gene.2024.148907_b0055","doi-asserted-by":"crossref","DOI":"10.15252\/embj.201899847","article-title":"A selective ER-phagy exerts procollagen quality control via a Calnexin-FAM134B complex","volume":"38","author":"Forrester","year":"2019","journal-title":"EMBO J."},{"issue":"17","key":"10.1016\/j.gene.2024.148907_b0060","doi-asserted-by":"crossref","DOI":"10.15252\/embj.201899259","article-title":"ER-to-lysosome-associated degradation of proteasome-resistant ATZ polymers occurs via receptor-mediated vesicular transport","volume":"37","author":"Fregno","year":"2018","journal-title":"EMBO J."},{"issue":"15","key":"10.1016\/j.gene.2024.148907_b0065","doi-asserted-by":"crossref","first-page":"e107240","DOI":"10.15252\/embj.2020107240","article-title":"N-glycan processing selects ERAD-resistant misfolded proteins for ER-to-lysosome-associated degradation","volume":"40","author":"Fregno","year":"2021","journal-title":"EMBO J."},{"issue":"2","key":"10.1016\/j.gene.2024.148907_b0070","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1080\/10409238.2019.1610351","article-title":"Proteasomal and lysosomal clearance of faulty secretory proteins: ER-associated degradation (ERAD) and ER-to-lysosome-associated degradation (ERLAD) pathways","volume":"54","author":"Fregno","year":"2019","journal-title":"Crit. Rev. Biochem. Mol. Biol."},{"issue":"11","key":"10.1016\/j.gene.2024.148907_b0075","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1038\/ncb3423","article-title":"Translocon component Sec62 acts in endoplasmic reticulum turnover during stress recovery","volume":"18","author":"Fumagalli","year":"2016","journal-title":"Nat. Cell Biol."},{"issue":"3","key":"10.1016\/j.gene.2024.148907_b0080","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1006\/bbrc.1997.8007","article-title":"Metal ligand-binding specificities of the tyrosinase-related proteins","volume":"242","author":"Furumura","year":"1998","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"7964","key":"10.1016\/j.gene.2024.148907_b0085","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1038\/s41586-023-06089-2","article-title":"Ubiquitination regulates ER-phagy and remodelling of endoplasmic reticulum","volume":"618","author":"Gonz\u00e1lez","year":"2023","journal-title":"Nature"},{"key":"10.1016\/j.gene.2024.148907_b0090","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/1750-1172-2-43","article-title":"Oculocutaneous albinism","volume":"2","author":"Gr\u00f8nskov","year":"2007","journal-title":"Orphanet J. Rare Dis."},{"issue":"11","key":"10.1016\/j.gene.2024.148907_b0095","doi-asserted-by":"crossref","first-page":"5889","DOI":"10.1073\/pnas.97.11.5889","article-title":"Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism","volume":"97","author":"Halaban","year":"2000","journal-title":"PNAS"},{"issue":"3","key":"10.1016\/j.gene.2024.148907_b0100","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1091\/mbc.5.3.253","article-title":"How N-linked oligosaccharides affect glycoprotein folding in the endoplasmic reticulum","volume":"5","author":"Helenius","year":"1994","journal-title":"Mol. Biol. Cell"},{"issue":"3","key":"10.1016\/j.gene.2024.148907_b0105","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1111\/j.1751-1097.2007.00238.x","article-title":"Chemistry of mixed melanogenesis\u2013pivotal roles of dopaquinone","volume":"84","author":"Ito","year":"2008","journal-title":"Photochem. Photobiol."},{"issue":"4565","key":"10.1016\/j.gene.2024.148907_b0110","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1126\/science.6810464","article-title":"Mammalian tyrosinase catalyzes three reactions in the biosynthesis of melanin","volume":"217","author":"K\u00f6rner","year":"1982","journal-title":"Science"},{"issue":"1","key":"10.1016\/j.gene.2024.148907_b0115","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/chem.201704410","article-title":"Structure and function of human tyrosinase and tyrosinase-related proteins","volume":"24","author":"Lai","year":"2018","journal-title":"Chemistry"},{"issue":"2","key":"10.1016\/j.gene.2024.148907_b0120","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/s00403-022-02335-1","article-title":"Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues","volume":"315","author":"Ma","year":"2023","journal-title":"Arch. Dermatol. Res."},{"issue":"8","key":"10.1016\/j.gene.2024.148907_b0125","doi-asserted-by":"crossref","first-page":"e42998","DOI":"10.1371\/journal.pone.0042998","article-title":"Tyrosinase degradation is prevented when EDEM1 lacks the intrinsically disordered region","volume":"7","author":"Marin","year":"2012","journal-title":"PLoS One"},{"issue":"3","key":"10.1016\/j.gene.2024.148907_b0130","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1083\/jcb.132.3.291","article-title":"Assembly of ER-associated protein degradation in vitro: dependence on cytosol, calnexin, and ATP","volume":"132","author":"McCracken","year":"1996","journal-title":"J. Cell Biol."},{"issue":"7","key":"10.1016\/j.gene.2024.148907_b0135","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/j.devcel.2021.03.005","article-title":"ER-phagy responses in yeast, plants, and mammalian cells and their crosstalk with UPR and ERAD","volume":"56","author":"Molinari","year":"2021","journal-title":"Dev. Cell"},{"issue":"7","key":"10.1016\/j.gene.2024.148907_b0140","first-page":"1001","article-title":"Investigation of the intracellular transport of tyrosinase and tyrosinase related protein (TRP)-1. The effect of endoplasmic reticulum (ER)-glucosidases inhibition","volume":"45","author":"Negroiu","year":"1999","journal-title":"Cell. Mol. Biol. (Noisy-Le-Grand)"},{"issue":"3","key":"10.1016\/j.gene.2024.148907_b0145","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1034\/j.1600-0749.2003.00045.x","article-title":"Oculocutaneous albinism type 1: the last 100 years","volume":"16","author":"Oetting","year":"2003","journal-title":"Pigment Cell Res."},{"issue":"2","key":"10.1016\/j.gene.2024.148907_b0150","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1002\/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C","article-title":"Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism","volume":"13","author":"Oetting","year":"1999","journal-title":"Hum. Mutat."},{"issue":"18","key":"10.1016\/j.gene.2024.148907_b0155","doi-asserted-by":"crossref","first-page":"5229","DOI":"10.1021\/bi000107z","article-title":"Tyrosinase and glycoprotein folding: roles of chaperones that recognize glycans","volume":"39","author":"Petrescu","year":"2000","journal-title":"Biochemistry"},{"issue":"31","key":"10.1016\/j.gene.2024.148907_b0160","doi-asserted-by":"crossref","first-page":"21682","DOI":"10.1074\/jbc.M603841200","article-title":"Productive folding of tyrosinase ectodomain is controlled by the transmembrane anchor","volume":"281","author":"Popescu","year":"2006","journal-title":"J. Biol. Chem."},{"issue":"7208","key":"10.1016\/j.gene.2024.148907_b0165","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1038\/nature07163","article-title":"Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes","volume":"454","author":"Setty","year":"2008","journal-title":"Nature"},{"issue":"12","key":"10.1016\/j.gene.2024.148907_b0170","doi-asserted-by":"crossref","first-page":"2149","DOI":"10.1096\/fj.01-0216com","article-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-type proteins","volume":"15","author":"Toyofuku","year":"2001","journal-title":"FASEB J."},{"issue":"6","key":"10.1016\/j.gene.2024.148907_b0175","doi-asserted-by":"crossref","DOI":"10.3390\/genes13061072","article-title":"Clinical and mutation spectrum of autosomal recessive non-syndromic oculocutaneous albinism (nsOCA) in Pakistan: a review","volume":"13","author":"Ullah","year":"2022","journal-title":"Genes (Basel)"},{"issue":"8","key":"10.1016\/j.gene.2024.148907_b0180","doi-asserted-by":"crossref","first-page":"3740","DOI":"10.1091\/mbc.e05-05-0381","article-title":"The cotranslational maturation of the type I membrane glycoprotein tyrosinase: the heat shock protein 70 system hands off to the lectin-based chaperone system","volume":"16","author":"Wang","year":"2005","journal-title":"Mol. Biol. Cell"},{"issue":"1","key":"10.1016\/j.gene.2024.148907_b0185","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/j.1600-0749.2005.00288.x","article-title":"Tyrosinase maturation through the mammalian secretory pathway: bringing color to life","volume":"19","author":"Wang","year":"2006","journal-title":"Pigment Cell Res."},{"issue":"Pt 24","key":"10.1016\/j.gene.2024.148907_b0190","doi-asserted-by":"crossref","first-page":"3995","DOI":"10.1242\/jcs.040667","article-title":"Melanosomes at a glance","volume":"121","author":"Wasmeier","year":"2008","journal-title":"J. Cell Sci."},{"issue":"1","key":"10.1016\/j.gene.2024.148907_b0195","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.jmb.2019.05.012","article-title":"Emerging principles of selective ER autophagy","volume":"432","author":"Wilkinson","year":"2020","journal-title":"J. Mol. Biol."},{"issue":"1","key":"10.1016\/j.gene.2024.148907_b0200","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1111\/php.12359","article-title":"Oculocutaneous albinism in sub-Saharan Africa: adverse sun-associated health effects and photoprotection","volume":"91","author":"Wright","year":"2015","journal-title":"Photochem. Photobiol."},{"issue":"4","key":"10.1016\/j.gene.2024.148907_b0205","first-page":"3123","article-title":"PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population","volume":"19","author":"Wu","year":"2019","journal-title":"Mol. Med. Rep."},{"key":"10.1016\/j.gene.2024.148907_b0210","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1038\/s41421-020-0141-7","article-title":"Lysosome Biology in Autophagy","volume":"6","author":"Yim","year":"2020","journal-title":"Cell Discov."},{"issue":"5","key":"10.1016\/j.gene.2024.148907_b0215","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1111\/pcmr.12790","article-title":"Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis","volume":"32","author":"Zhong","year":"2019","journal-title":"Pigment Cell Melanoma Res."},{"key":"10.1016\/j.gene.2024.148907_b0220","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2022.926511","article-title":"Identification of 12 OCA cases in Chinese population and two novel variants","volume":"13","author":"Zhong","year":"2022","journal-title":"Front. Genet."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111924007881?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111924007881?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T19:49:09Z","timestamp":1726170549000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111924007881"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":44,"alternative-id":["S0378111924007881"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2024.148907","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The degradation of TYR variants derived from Chinese OCA families is mediated by the ERAD and ERLAD pathway","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2024.148907","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"148907"}}