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Accessed May 25, 2014."},{"key":"ref37","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1756-8935-6-13","article-title":"ZBTB33 binds unmethylated regions of the genome associated with actively expressed genes","volume":"6","author":"A Blattler","year":"2013","journal-title":"Epigenetics Chromatin"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/j.bbabio.2008.03.013","article-title":"Structure and regulation of the vacuolar ATPases","volume":"1777","author":"DJ Cipriano","year":"2008","journal-title":"Biochim Biophys Acta"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1152\/physrev.1999.79.2.361","article-title":"Vacuolar and plasma membrane proton-adenosinetriphosphatases","volume":"79","author":"N Nelson","year":"1999","journal-title":"Physiol Rev"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1038\/nrm729","article-title":"The vacuolar (H+)-ATPases\u2013nature&apos;s most versatile proton pumps","volume":"3","author":"T Nishi","year":"2002","journal-title":"Nat Rev Mol Cell Biol"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"3135","DOI":"10.1021\/pr060363j","article-title":"Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes","volume":"5","author":"A Chi","year":"2006","journal-title":"J Proteome Res"},{"key":"ref42","first-page":"313","article-title":"[Diagnostic value of cafe-au-lait spots (author&apos;s transl)]","volume":"107","author":"JP Ortonne","year":"1980","journal-title":"Ann Dermatol Venereol"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"3995","DOI":"10.1242\/jcs.040667","article-title":"Melanosomes at a glance","volume":"121","author":"C Wasmeier","year":"2008","journal-title":"J Cell Sci"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1089\/zeb.2008.0549","article-title":"Pigment dilution mutants from fish models with connection to lysosome-related organelles and vesicular traffic genes","volume":"5","author":"RE Navarro","year":"2008","journal-title":"Zebrafish"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/1756-0500-6-39","article-title":"The zebrafish mutants for the V-ATPase subunits d, ac45, E, H and c and their variable pigment dilution phenotype","volume":"6","author":"JL Ramos-Balderas","year":"2013","journal-title":"BMC Res Notes"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"3835","DOI":"10.1128\/MCB.26.10.3835-3841.2006","article-title":"Dph3, a small protein required for diphthamide biosynthesis, is essential in mouse development","volume":"26","author":"S Liu","year":"2006","journal-title":"Mol Cell Biol"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"2613","DOI":"10.1111\/j.1742-4658.2011.08199.x","article-title":"Unique modifications of translation elongation factors","volume":"278","author":"E Greganova","year":"2011","journal-title":"FEBS 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