{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T03:36:44Z","timestamp":1700624204318},"reference-count":38,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2000,12,1]],"date-time":"2000-12-01T00:00:00Z","timestamp":975628800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2000,12]]},"DOI":"10.1006\/mgme.2000.3091","type":"journal-article","created":{"date-parts":[[2002,9,18]],"date-time":"2002-09-18T19:46:30Z","timestamp":1032378390000},"page":"599-608","source":"Crossref","is-referenced-by-count":5,"title":["5\u2032-UTR Structural Organization, Transcript Expression, and Mutational Analysis of the Human Rab Geranylgeranyl Transferase \u03b1-Subunit (RABGGTA) Gene"],"prefix":"10.1006","volume":"71","author":[{"given":"Wei","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John C.","family":"Detter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harvey J.","family":"Weiss","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth M.","family":"Cramer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward K.","family":"Novak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R\u00e9mi","family":"Favier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen F.","family":"Kingsmore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard T.","family":"Swank","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1006\/mgme.2000.3091_RF1","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1006\/mgme.1998.2729","article-title":"Hermansky-Pudlak syndrome: Models for intracellular vesicle formation","volume":"65","author":"Shotelersuk","year":"1998","journal-title":"Mol Genet Metab"},{"key":"10.1006\/mgme.2000.3091_RF2","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1111\/j.1600-0749.1998.tb00713.x","article-title":"Mouse models of Hermansky Pudlak syndrome: A review","volume":"11","author":"Swank","year":"1998","journal-title":"Pigment Cell Res"},{"key":"10.1006\/mgme.2000.3091_RF3","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1034\/j.1399-0004.1999.550503.x","article-title":"Multi-organellar disorders of pigmentation: Tied up in traffic","volume":"55","author":"Spritz","year":"1999","journal-title":"Clin Genet"},{"key":"10.1006\/mgme.2000.3091_RF4","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1034\/j.1600-0749.13.s8.12.x","article-title":"Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome","volume":"13","author":"Swank","year":"2000","journal-title":"Pigment Cell Res"},{"key":"10.1006\/mgme.2000.3091_RF5","first-page":"333","article-title":"Albinism and Hermansky-Pudlak syndrome in Puerto Rico","volume":"82","author":"Witkop","year":"1990","journal-title":"Bol Asoc Med P R Agosto"},{"key":"10.1006\/mgme.2000.3091_RF6","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1038\/ng1196-300","article-title":"Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles","volume":"14","author":"Oh","year":"1996","journal-title":"Nature Genet"},{"key":"10.1006\/mgme.2000.3091_RF7","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1086\/301757","article-title":"Mutation analysis of patients with Hermansky-Pudlak syndrome: A frameshift hot spot in the HPS gene and apparent locus heterogeneity","volume":"62","author":"Oh","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1006\/mgme.2000.3091_RF8","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1006\/mgme.1998.2679","article-title":"Three new mutations in a gene causing Hermansky-Pudlak syndrome: Clinical correlations","volume":"64","author":"Shotelersuk","year":"1998","journal-title":"Mol Genet Metab"},{"key":"10.1006\/mgme.2000.3091_RF9","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/S1097-2765(00)80170-7","article-title":"Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the \u03b23A subunit of the AP-3 adaptor","volume":"3","author":"Dell'Angelica","year":"1999","journal-title":"Mol Cell"},{"key":"10.1006\/mgme.2000.3091_RF10","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.1074\/jbc.275.2.1300","article-title":"Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene","volume":"275","author":"Dell'Angelica","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1006\/mgme.2000.3091_RF11","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1093\/hmg\/9.3.375","article-title":"The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes","volume":"9","author":"Oh","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1006\/mgme.2000.3091_RF12","doi-asserted-by":"crossref","first-page":"7933","DOI":"10.1073\/pnas.140212797","article-title":"A mutation in Rab27a causes the vesicle transport defects observed in ashen mice","volume":"97","author":"Wilson","year":"2000","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1006\/mgme.2000.3091_RF13","doi-asserted-by":"crossref","first-page":"9238","DOI":"10.1073\/pnas.94.17.9238","article-title":"The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome","volume":"94","author":"Gardner","year":"1997","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1006\/mgme.2000.3091_RF14","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1093\/hmg\/6.5.793","article-title":"Mouse pale ear (ep) is homologous to human Hermansky-Pudlak Syndrome and contains a rare \u2018AT-AC\u2019 intron","volume":"6","author":"Feng","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1006\/mgme.2000.3091_RF15","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1093\/hmg\/8.2.323","article-title":"The \u03b23A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a mouse model for Hermansky-Pudlak syndrome and night blindness","volume":"8","author":"Feng","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1006\/mgme.2000.3091_RF16","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/S0896-6273(00)80519-X","article-title":"Mutation of the AP-3 delta subunit in the mocha mouse links endosomal cargo transport to storage deficiency in platelets, melanosomes and neurotransmitter vesicles","volume":"21","author":"Kantheti","year":"1998","journal-title":"Neuron"},{"key":"10.1006\/mgme.2000.3091_RF17","doi-asserted-by":"crossref","unstructured":"Huang, L, Kuo, Y-M, Gitschier, J.The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. Nature Genet23:329\u2013332.","DOI":"10.1038\/15507"},{"key":"10.1006\/mgme.2000.3091_RF18","doi-asserted-by":"crossref","first-page":"1781","DOI":"10.1182\/blood.V85.7.1781.bloodjournal8571781","article-title":"1995","volume":"85","author":"Novak","year":"1999","journal-title":"Blood"},{"key":"10.1006\/mgme.2000.3091_RF19","doi-asserted-by":"crossref","first-page":"2626","DOI":"10.1182\/blood.V81.10.2626.2626","article-title":"Inherited abnormalities in platelet organelles and platelet formation and associated altered expression of low molecular weight guanosine triphosphate-binding proteins in the mouse pigment mutant gunmetal","volume":"81","author":"Swank","year":"1993","journal-title":"Blood"},{"key":"10.1006\/mgme.2000.3091_RF20","doi-asserted-by":"crossref","first-page":"162","DOI":"10.3181\/00379727-220-44359","article-title":"Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome","volume":"220","author":"McGarry","year":"1999","journal-title":"Proc Soc Exp Biol Med"},{"key":"10.1006\/mgme.2000.3091_RF21","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1016\/S0022-2143(97)90185-2","article-title":"Platelet alpha granule deficiency associated with decreased P-selection and selective impairment of thrombin-induced activation in a new patient with Gray Platelet syndrome (alpha-storage pool deficiency)","volume":"129","author":"Lages","year":"1997","journal-title":"J Lab Clin Med"},{"key":"10.1006\/mgme.2000.3091_RF22","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/S0950-3536(97)80054-6","article-title":"Megakaryocytes and platelets in \u03b1-granule disorders","volume":"10","author":"Smith","year":"1997","journal-title":"Baill Clin Haematol"},{"key":"10.1006\/mgme.2000.3091_RF23","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1111\/j.1365-2141.1993.tb08284.x","article-title":"Heterogeneous abnormalities of platelet dense granule ultrastructure in 20 patients with congenital storage pool deficiency","volume":"83","author":"Weiss","year":"1993","journal-title":"Br J Haematol"},{"key":"10.1006\/mgme.2000.3091_RF24","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1002\/ajh.2830440407","article-title":"Synergistic effect of storage pool deficient platelets and low plasma von Willebrand factor on the severity of the hemorrhagic diathesis in Hermansky-Pudlak Syndrome","volume":"44","author":"Witkop","year":"1993","journal-title":"Am J Hematol"},{"key":"10.1006\/mgme.2000.3091_RF25","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1002\/(SICI)1096-8652(199810)59:2<115::AID-AJH3>3.0.CO;2-0","article-title":"Platelet von Willebrand factor in Hermansky-Pudlak syndrome","volume":"59","author":"McKeown","year":"1998","journal-title":"Am J Hematol"},{"key":"10.1006\/mgme.2000.3091_RF26","doi-asserted-by":"crossref","first-page":"4144","DOI":"10.1073\/pnas.080517697","article-title":"Rab geranylgeranyl transferase \u03b1 mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis","volume":"97","author":"Detter","year":"2000","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1006\/mgme.2000.3091_RF27","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1042\/bst0240699","article-title":"Geranylgeranylation of Rab proteins","volume":"24","author":"Desnoyers","year":"1996","journal-title":"Biochem Soc Trans"},{"key":"10.1006\/mgme.2000.3091_RF28","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1006\/bbrc.1997.6717","article-title":"The genes encoding geranylgeranyl transferase \u03b1-subunit and transglutaminase 1 are very closely linked but not functionally related in terminally differentiating keratinocytes","volume":"235","author":"Song","year":"1997","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1006\/mgme.2000.3091_RF29","first-page":"705a","article-title":"Newly recognized cellular abnormalities in the gray platelet syndrome","volume":"92","author":"Cramer","year":"1998","journal-title":"Blood"},{"key":"10.1006\/mgme.2000.3091_RF30","series-title":"Molecular cloning: A laboratory manual, 2nd ed","author":"Sambrook","year":"1989"},{"key":"10.1006\/mgme.2000.3091_RF31","first-page":"1051","article-title":"Cloning of 5\u2032 cDNA regions by inverse PCR","volume":"17","author":"Zeiner","year":"1994","journal-title":"BioTechniques"},{"key":"10.1006\/mgme.2000.3091_RF32","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1126\/science.8380507","article-title":"Retinal degeneration in choroideremia: Deficiency of Rab geranylgeranyl transferase","volume":"259","author":"Seabra","year":"1993","journal-title":"Science"},{"key":"10.1006\/mgme.2000.3091_RF33","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1093\/hmg\/3.7.1041","article-title":"Cloning and characterization of the human choroideremia gene","volume":"3","author":"van Bokhoven","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1006\/mgme.2000.3091_RF34","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1006\/geno.1996.0608","article-title":"cDNA cloning and chromosomal localization of the genes encoding the \u03b1- and \u03b2-subunits of human Rab geranylgeranyl transferase: The 3\u2032 end of the \u03b1-subunit gene overlaps with the transglutaminase 1 gene promoter","volume":"38","author":"van Bokhoven","year":"1996","journal-title":"Genomics"},{"key":"10.1006\/mgme.2000.3091_RF35","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1038\/sj.ejhg.5200224","article-title":"Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway","volume":"6","author":"Pigg","year":"1998","journal-title":"Eur J Hum Genet"},{"key":"10.1006\/mgme.2000.3091_RF36","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1016\/S0006-291X(05)81004-6","article-title":"Genomic structure of the ME491\/CD63 antigen gene and functional analysis of the 5\u2032-flanking regulatory sequences","volume":"185","author":"Hotta","year":"1992","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1006\/mgme.2000.3091_RF37","series-title":"Molecular Cell Biology, 3rd ed","author":"Lodish","year":"1995"},{"key":"10.1006\/mgme.2000.3091_RF38","doi-asserted-by":"crossref","first-page":"12221","DOI":"10.1016\/S0021-9258(19)50329-5","article-title":"cDNA cloning and expression of the \u03b1 and \u03b2 subunits of rat rab geranylgeranyl transferase","volume":"268","author":"Armstrong","year":"1993","journal-title":"J Biol Chem"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719200930919?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719200930919?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,5,3]],"date-time":"2021-05-03T04:52:08Z","timestamp":1620017528000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719200930919"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,12]]},"references-count":38,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2000,12]]}},"alternative-id":["S1096719200930919"],"URL":"https:\/\/doi.org\/10.1006\/mgme.2000.3091","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2000,12]]}}}