{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T14:40:57Z","timestamp":1790779257097,"version":"4.1.0"},"reference-count":49,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2017,3,1]],"date-time":"2017-03-01T00:00:00Z","timestamp":1488326400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T00:00:00Z","timestamp":1519862400000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["jidonline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[2017,3]]},"DOI":"10.1016\/j.jid.2016.10.035","type":"journal-article","created":{"date-parts":[[2016,11,5]],"date-time":"2016-11-05T05:01:06Z","timestamp":1478322066000},"page":"595-602","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":44,"title":["Functional Rescue of ABCC6 Deficiency by 4-Phenylbutyrate Therapy Reduces Dystrophic Calcification in Abcc6\u2013\/\u2013 Mice"],"prefix":"10.1016","volume":"137","author":[{"given":"Viola","family":"Pomozi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Brampton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fl\u00f3ra","family":"Szeri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00f3ra","family":"Dedinszki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eszter","family":"Koz\u00e1k","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koen","family":"van de Wetering","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hi\u2019ilani","family":"Hopkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludovic","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e1s","family":"V\u00e1radi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Le Saux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jid.2016.10.035_bib1","doi-asserted-by":"crossref","first-page":"7608","DOI":"10.1074\/jbc.M708290200","article-title":"An alternative splice variant in Abcc6, the gene causing dystrophic calcification, leads to protein deficiency in C3H\/He mice","volume":"283","author":"Aherrahrou","year":"2008","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.jid.2016.10.035_bib2","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1152\/physiolgenomics.00133.2006","article-title":"Ultrafine mapping of Dyscalc1 to an 80-kb chromosomal segment on chromosome 7 in mice susceptible for dystrophic calcification","volume":"28","author":"Aherrahrou","year":"2007","journal-title":"Physiol Genomics"},{"key":"10.1016\/j.jid.2016.10.035_bib3","doi-asserted-by":"crossref","first-page":"1672","DOI":"10.1038\/sj.gt.3302065","article-title":"Long-term therapeutic levels of human alpha-1 antitrypsin in plasma after hydrodynamic injection of nonviral DNA","volume":"10","author":"Alino","year":"2003","journal-title":"Gene Ther"},{"key":"10.1016\/j.jid.2016.10.035_bib4","doi-asserted-by":"crossref","first-page":"27","DOI":"10.3389\/fgene.2013.00027","article-title":"Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations","volume":"4","author":"Aranyi","year":"2013","journal-title":"Front Genet"},{"key":"10.1016\/j.jid.2016.10.035_bib5","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1007\/s00418-004-0744-3","article-title":"Analysis of ABCC6 (MRP6) in normal human tissues","volume":"123","author":"Beck","year":"2005","journal-title":"Histochem Cell Biol"},{"key":"10.1016\/j.jid.2016.10.035_bib6","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1177\/002215540305100704","article-title":"The distribution of Abcc6 in normal mouse tissues suggests multiple functions for this ABC transporter","volume":"51","author":"Beck","year":"2003","journal-title":"J\u00a0Histochem Cytochem"},{"key":"10.1016\/j.jid.2016.10.035_bib7","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.ajpath.2013.09.015","article-title":"The level of hepatic ABCC6 expression determines the severity of calcification after cardiac injury","volume":"184","author":"Brampton","year":"2014","journal-title":"Am J Pathol"},{"key":"10.1016\/j.jid.2016.10.035_bib8","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.aanat.2006.01.013","article-title":"Arterial calcification in mice after freeze-thaw injury","volume":"188","author":"Doehring","year":"2006","journal-title":"Ann Anat"},{"key":"10.1016\/j.jid.2016.10.035_bib9","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.bbrc.2006.12.151","article-title":"DNA methylation and Sp1 binding determine the tissue-specific transcriptional activity of the mouse Abcc6 promoter","volume":"354","author":"Douet","year":"2007","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.jid.2016.10.035_bib10","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1056\/NEJM199208203270818","article-title":"Increased fetal hemoglobin in patients receiving sodium 4-phenylbutyrate","volume":"327","author":"Dover","year":"1992","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.jid.2016.10.035_bib11","doi-asserted-by":"crossref","first-page":"1268","DOI":"10.1097\/IAE.0b013e318207d1dc","article-title":"Long-term effectiveness of intravitreal bevacizumab for choroidal neovascularization secondary to angioid streaks in pseudoxanthoma elasticum","volume":"31","author":"Finger","year":"2011","journal-title":"Retina"},{"key":"10.1016\/j.jid.2016.10.035_bib12","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1016\/j.jhep.2012.04.017","article-title":"Successful mutation-specific chaperone therapy with 4-phenylbutyrate in a child with progressive familial intrahepatic cholestasis type 2","volume":"57","author":"Gonzales","year":"2012","journal-title":"J\u00a0Hepatol"},{"key":"10.1016\/j.jid.2016.10.035_bib13","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1002\/hep.27767","article-title":"Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: evidence for improvement of cholestasis with 4-phenylbutyrate","volume":"62","author":"Gonzales","year":"2015","journal-title":"Hepatology"},{"key":"10.1016\/j.jid.2016.10.035_bib14","doi-asserted-by":"crossref","first-page":"1763","DOI":"10.1093\/hmg\/ddi183","article-title":"Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum","volume":"14","author":"Gorgels","year":"2005","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jid.2016.10.035_bib15","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1111\/hepr.12561","article-title":"Successful treatment with 4-phenylbutyrate in a patient with benign recurrent intrahepatic cholestasis type 2 refractory to biliary drainage and bilirubin absorption","volume":"46","author":"Hayashi","year":"2016","journal-title":"Hepatol Res"},{"key":"10.1016\/j.jid.2016.10.035_bib16","doi-asserted-by":"crossref","first-page":"227","DOI":"10.2165\/11591280-000000000-00000","article-title":"Clinical and experimental applications of sodium phenylbutyrate","volume":"11","author":"Iannitti","year":"2011","journal-title":"Drugs R D"},{"key":"10.1016\/j.jid.2016.10.035_bib17","doi-asserted-by":"crossref","first-page":"16860","DOI":"10.1074\/jbc.M110918200","article-title":"Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6)","volume":"277","author":"Ilias","year":"2002","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.jid.2016.10.035_bib18","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1152\/physiolgenomics.2001.6.3.137","article-title":"New dyscalc loci for myocardial cell necrosis and calcification (dystrophic cardiac calcinosis) in mice","volume":"6","author":"Ivandic","year":"2001","journal-title":"Physiol Genomics"},{"key":"10.1016\/j.jid.2016.10.035_bib19","doi-asserted-by":"crossref","first-page":"1985","DOI":"10.1161\/ATVBAHA.114.304017","article-title":"ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief report","volume":"34","author":"Jansen","year":"2014","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.jid.2016.10.035_bib20","doi-asserted-by":"crossref","first-page":"20206","DOI":"10.1073\/pnas.1319582110","article-title":"ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release","volume":"110","author":"Jansen","year":"2013","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jid.2016.10.035_bib21","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1038\/jid.2009.423","article-title":"Overexpression of fetuin-a counteracts ectopic mineralization in a mouse model of pseudoxanthoma elasticum (abcc6(-\/-))","volume":"130","author":"Jiang","year":"2010","journal-title":"J\u00a0Invest Dermatol"},{"key":"10.1016\/j.jid.2016.10.035_bib22","doi-asserted-by":"crossref","first-page":"1294","DOI":"10.1038\/jid.2015.10","article-title":"Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations","volume":"135","author":"Jin","year":"2015","journal-title":"J\u00a0Invest Dermatol"},{"key":"10.1016\/j.jid.2016.10.035_bib23","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1007\/s00428-005-0071-7","article-title":"Calcification of myocardial necrosis is common in mice","volume":"448","author":"Korff","year":"2006","journal-title":"Virchows Arch"},{"key":"10.1016\/j.jid.2016.10.035_bib24","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1152\/physiolgenomics.00010.2006","article-title":"Fine mapping of Dyscalc1, the major genetic determinant of dystrophic cardiac calcification in mice","volume":"25","author":"Korff","year":"2006","journal-title":"Physiol Genomics"},{"key":"10.1016\/j.jid.2016.10.035_bib25","doi-asserted-by":"crossref","first-page":"e24738","DOI":"10.1371\/journal.pone.0024738","article-title":"Expression and in\u00a0vivo rescue of human ABCC6 disease-causing mutants in mouse liver","volume":"6","author":"Le Saux","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.jid.2016.10.035_bib26","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/76102","article-title":"Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum","volume":"25","author":"Le Saux","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.jid.2016.10.035_bib27","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1080\/15384101.2015.1007809","article-title":"The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene","volume":"14","author":"Li","year":"2015","journal-title":"Cell Cycle"},{"key":"10.1016\/j.jid.2016.10.035_bib28","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1038\/sj.gt.3300947","article-title":"Hydrodynamics-based transfection in animals by systemic administration of plasmid DNA","volume":"6","author":"Liu","year":"1999","journal-title":"Gene Ther"},{"key":"10.1016\/j.jid.2016.10.035_bib29","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1056\/NEJM199609193351204","article-title":"Long-term treatment of girls with ornithine transcarbamylase deficiency","volume":"335","author":"Maestri","year":"1996","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.jid.2016.10.035_bib30","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1016\/j.ajpath.2010.10.004","article-title":"A\u00a0mouse model of beta-thalassemia shows a liver-specific down-regulation of Abcc6 expression","volume":"178","author":"Martin","year":"2011","journal-title":"Am J Pathol"},{"key":"10.1016\/j.jid.2016.10.035_bib31","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1177\/6.1.22","article-title":"Histochemical methods for calcium","volume":"6","author":"McGee-Russell","year":"1958","journal-title":"J\u00a0Histochem Cytochem"},{"key":"10.1016\/j.jid.2016.10.035_bib32","doi-asserted-by":"crossref","first-page":"4530","DOI":"10.1073\/pnas.0607620104","article-title":"Identification of Abcc6 as the major causal gene for dystrophic cardiac calcification in mice through integrative genomics","volume":"104","author":"Meng","year":"2007","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jid.2016.10.035_bib33","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1016\/j.jpeds.2013.12.032","article-title":"Improved liver function and relieved pruritus after 4-phenylbutyrate therapy in a patient with progressive familial intrahepatic cholestasis type 2","volume":"164","author":"Naoi","year":"2014","journal-title":"J\u00a0Pediatr"},{"key":"10.1016\/j.jid.2016.10.035_bib34","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.ajhg.2011.11.020","article-title":"Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6","volume":"90","author":"Nitschke","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jid.2016.10.035_bib35","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1038\/ki.2010.461","article-title":"Treatment with pyrophosphate inhibits uremic vascular calcification","volume":"79","author":"O'Neill","year":"2011","journal-title":"Kidney Int"},{"key":"10.1016\/j.jid.2016.10.035_bib36","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1093\/ndt\/gfp362","article-title":"Plasma pyrophosphate and vascular calcification in chronic kidney disease","volume":"25","author":"O'Neill","year":"2010","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.jid.2016.10.035_bib37","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1002\/jbmr.1752","article-title":"Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy","volume":"28","author":"Otero","year":"2013","journal-title":"J\u00a0Bone Miner Res"},{"key":"10.1016\/j.jid.2016.10.035_bib38","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1056\/NEJM199301143280202","article-title":"A\u00a0short-term trial of butyrate to stimulate fetal-globin-gene expression in the beta-globin disorders","volume":"328","author":"Perrine","year":"1993","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.jid.2016.10.035_bib39","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1038\/jid.2013.482","article-title":"Analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in\u00a0vivo; pharmacological correction of the mislocalized proteins","volume":"134","author":"Pomozi","year":"2014","journal-title":"J\u00a0Invest Dermatol"},{"key":"10.1016\/j.jid.2016.10.035_bib40","doi-asserted-by":"crossref","first-page":"e148","DOI":"10.1161\/CIRCRESAHA.111.300194","article-title":"ABCC6 is a basolateral plasma membrane protein","volume":"112","author":"Pomozi","year":"2013","journal-title":"Circ Res"},{"key":"10.1016\/j.jid.2016.10.035_bib41","doi-asserted-by":"crossref","first-page":"C259","DOI":"10.1152\/ajpcell.2000.278.2.C259","article-title":"Sodium 4-phenylbutyrate downregulates Hsc70: implications for intracellular trafficking of DeltaF508-CFTR","volume":"278","author":"Rubenstein","year":"2000","journal-title":"Am J Physiol Cell Physiol"},{"key":"10.1016\/j.jid.2016.10.035_bib42","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1172\/JCI106589","article-title":"Inorganic pyrophosphate in plasma in normal persons and in patients with hypophosphatasia, osteogenesis imperfecta, and other disorders of bone","volume":"50","author":"Russell","year":"1971","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.jid.2016.10.035_bib43","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1038\/labinvest.3780444","article-title":"MRP6 (ABCC6) detection in normal human tissues and tumors","volume":"82","author":"Scheffer","year":"2002","journal-title":"Lab Invest"},{"key":"10.1016\/j.jid.2016.10.035_bib44","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/nmeth.2019","article-title":"Fiji: an open-source platform for biological-image analysis","volume":"9","author":"Schindelin","year":"2012","journal-title":"Nat Methods"},{"key":"10.1016\/j.jid.2016.10.035_bib45","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/S0006-291X(03)01349-4","article-title":"Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells","volume":"308","author":"Sinko","year":"2003","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.jid.2016.10.035_bib46","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1194\/jlr.M027193","article-title":"Functional rescue of mutant ABCA1 proteins by sodium 4-phenylbutyrate","volume":"54","author":"Sorrenson","year":"2013","journal-title":"J\u00a0Lipid Res"},{"key":"10.1016\/j.jid.2016.10.035_bib47","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1089\/10430349950017734","article-title":"High levels of foreign gene expression in hepatocytes after tail vein injections of naked plasmid DNA","volume":"10","author":"Zhang","year":"1999","journal-title":"Hum Gene Ther"},{"key":"10.1016\/j.jid.2016.10.035_bib48","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1038\/sj.gt.3302210","article-title":"Hydroporation as the mechanism of hydrodynamic delivery","volume":"11","author":"Zhang","year":"2004","journal-title":"Gene Ther"},{"key":"10.1016\/j.jid.2016.10.035_bib49","doi-asserted-by":"crossref","first-page":"2672","DOI":"10.1038\/jid.2013.234","article-title":"Premature termination codon read-through in the ABCC6 gene: potential treatment for pseudoxanthoma elasticum","volume":"133","author":"Zhou","year":"2013","journal-title":"J\u00a0Invest Dermatol"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X16326240?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X16326240?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,11,27]],"date-time":"2018-11-27T07:33:07Z","timestamp":1543303987000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X16326240"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3]]},"references-count":49,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["S0022202X16326240"],"URL":"https:\/\/doi.org\/10.1016\/j.jid.2016.10.035","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[2017,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Functional Rescue of ABCC6 Deficiency by 4-Phenylbutyrate Therapy Reduces Dystrophic Calcification in Abcc6\u2013\/\u2013 Mice","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jid.2016.10.035","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 The Authors. Published by Elsevier, Inc. on behalf of the Society for Investigative Dermatology.","name":"copyright","label":"Copyright"}]}}