{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T18:09:15Z","timestamp":1792001355819,"version":"4.4.0"},"reference-count":43,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,4,6]],"date-time":"2022-04-06T00:00:00Z","timestamp":1649203200000},"content-version":"vor","delay-in-days":95,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","cmghjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Cellular and Molecular Gastroenterology and Hepatology"],"published-print":{"date-parts":[[2022]]},"DOI":"10.1016\/j.jcmgh.2022.04.006","type":"journal-article","created":{"date-parts":[[2022,4,11]],"date-time":"2022-04-11T12:18:16Z","timestamp":1649679496000},"page":"295-310","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":23,"title":["A Functional Relationship Between UNC45A and MYO5B Connects Two Rare Diseases With Shared Enteropathy"],"prefix":"10.1016","volume":"14","author":[{"given":"Qinghong","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhe","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chang","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Klappe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3664-1382","authenticated-orcid":false,"given":"Sven C.D.","family":"van IJzendoorn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jcmgh.2022.04.006_bib1","doi-asserted-by":"crossref","first-page":"13185","DOI":"10.1074\/jbc.M800757200","article-title":"Unc45 activates Hsp90-dependent folding of the myosin motor domain","volume":"283","author":"Liu","year":"2008","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib2","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/B978-0-12-800177-6.00004-9","article-title":"The UNC-45 myosin chaperone: from worms to flies to vertebrates","volume":"313","author":"Lee","year":"2014","journal-title":"Int Rev Cell Mol Biol"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib3","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1126\/science.1066648","article-title":"Role of the myosin assembly protein UNC-45 as a molecular chaperone for myosin","volume":"295","author":"Barral","year":"2002","journal-title":"Science"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib4","doi-asserted-by":"crossref","first-page":"3983","DOI":"10.1242\/jcs.00107","article-title":"The UCS family of myosin chaperones","volume":"115","author":"Hutagalung","year":"2002","journal-title":"J\u00a0Cell Sci"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib5","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1016\/j.ajhg.2018.01.009","article-title":"Loss-of-function mutations in UNC45A cause a syndrome associating cholestasis, diarrhea, impaired hearing, and bone fragility","volume":"102","author":"Esteve","year":"2018","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib6","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1016\/j.ajhg.2020.11.002","article-title":"Pathogenic variants in the myosin chaperone UNC-45B cause progressive myopathy with eccentric cores","volume":"107","author":"Donkervoort","year":"2020","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib7","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/978-3-030-38062-5_13","article-title":"Myosins and hearing","volume":"1239","author":"Friedman","year":"2020","journal-title":"Adv Exp Med Biol"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib8","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1038\/ng.225","article-title":"MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity","volume":"40","author":"M\u00fcller","year":"2008","journal-title":"Nat Genet"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib9","doi-asserted-by":"crossref","first-page":"1655","DOI":"10.1002\/hep.29020","article-title":"Defects in myosin VB are associated with a spectrum of previously undiagnosed low \u03b3-glutamyltransferase cholestasis","volume":"65","author":"Qiu","year":"2017","journal-title":"Hepatology"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib10","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/hep.28779","article-title":"MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease","volume":"65","author":"Gonzales","year":"2017","journal-title":"Hepatology"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib11","article-title":"A\u00a0molecular mechanism underlying genotype-specific intrahepatic cholestasis resulting from MYO5B mutations","author":"Overeem","year":"2019","journal-title":"Hepatology"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib12","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1002\/humu.21224","article-title":"Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model","volume":"31","author":"Ruemmele","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib13","first-page":"1007","article-title":"Myosin Vb and Rab11a regulate phosphorylation of ezrin in enterocytes","volume":"127","author":"Dhekne","year":"2014","journal-title":"J\u00a0Cell Sci"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib14","doi-asserted-by":"crossref","first-page":"4053","DOI":"10.1083\/jcb.201703107","article-title":"UNC-45a promotes myosin folding and stress fiber assembly","volume":"216","author":"Lehtim\u00e4ki","year":"2017","journal-title":"J\u00a0Cell Biol"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib15","doi-asserted-by":"crossref","first-page":"5313","DOI":"10.1242\/jcs.01389","article-title":"Maternal UNC-45 is involved in cytokinesis and colocalizes with non-muscle myosin in the early Caenorhabditis elegans embryo","volume":"117","author":"Kachur","year":"2004","journal-title":"J\u00a0Cell Sci"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib16","doi-asserted-by":"crossref","first-page":"2237","DOI":"10.1091\/mbc.e02-09-0616","article-title":"She4p\/Dim1p interacts with the motor domain of unconventional myosins in the budding yeast, Saccharomyces cerevisiae","volume":"14","author":"Toi","year":"2003","journal-title":"Mol Biol Cell"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib17","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.mod.2016.08.001","article-title":"The zebrafish goosepimples\/myosin Vb mutant exhibits cellular attributes of human microvillus inclusion disease","volume":"142","author":"Sidhaye","year":"2016","journal-title":"Mech Dev"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib18","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1083\/jcb.201506112","article-title":"Cargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3","volume":"211","author":"Vogel","year":"2015","journal-title":"J\u00a0Cell Biol"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib19","doi-asserted-by":"crossref","first-page":"2947","DOI":"10.1172\/JCI71651","article-title":"Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease","volume":"124","author":"Knowles","year":"2014","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib20","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1053\/j.gastro.2014.04.002","article-title":"Loss of syntaxin 3 causes variant microvillus inclusion disease","volume":"147","author":"Wiegerinck","year":"2014","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib21","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1007\/s00439-021-02284-1","article-title":"Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects","volume":"140","author":"Janecke","year":"2021","journal-title":"Hum Genet"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib22","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1002\/humu.23386","article-title":"MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: a mutation update","volume":"39","author":"Dhekne","year":"2018","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib23","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1002\/pbc.24475","article-title":"Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2\/MUNC18-2 mutations","volume":"60","author":"Stepensky","year":"2013","journal-title":"Pediatr Blood Cancer"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib24","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/j.jcmgh.2018.08.001","article-title":"Dynamic formation of microvillus inclusions during enterocyte differentiation in Munc18-2-deficient intestinal organoids","volume":"6","author":"Mosa","year":"2018","journal-title":"Cell Mol Gastroenterol Hepatol"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib25","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1097\/MPG.0b013e3181eea177","article-title":"Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease","volume":"52","author":"Szperl","year":"2011","journal-title":"J\u00a0Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib26","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1097\/MPG.0b013e3182353773","article-title":"MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome","volume":"54","author":"Golachowska","year":"2012","journal-title":"J\u00a0Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib27","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1111\/tra.12131","article-title":"Microvillus inclusion disease: loss of myosin vb disrupts intracellular traffic and cell polarity","volume":"15","author":"Thoeni","year":"2014","journal-title":"Traffic"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib28","doi-asserted-by":"crossref","first-page":"1843","DOI":"10.1091\/mbc.12.6.1843","article-title":"Myosin vb is associated with plasma membrane recycling systems","volume":"12","author":"Lapierre","year":"2001","journal-title":"Mol Biol Cell"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib29","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pbio.3000531","article-title":"Loss of MYO5B expression deregulates late endosome size which hinders mitotic spindle orientation","volume":"17","author":"Leng","year":"2019","journal-title":"PLoS Biol"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib30","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1016\/0016-5085(78)90458-4","article-title":"Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy","volume":"75","author":"Davidson","year":"1978","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib31","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1056\/NEJM198903093201006","article-title":"Microvillus inclusion disease: an inherited defect of brush-border assembly and differentiation","volume":"320","author":"Cutz","year":"1989","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib32","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.cell.2012.12.025","article-title":"The myosin chaperone UNC-45 is organized in tandem modules to support myofilament formation in C. elegans","volume":"152","author":"Gazda","year":"2013","journal-title":"Cell"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib33","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1016\/j.cub.2010.03.024","article-title":"Motor number controls cargo switching at actin-microtubule intersections in\u00a0vitro","volume":"20","author":"Schroeder","year":"2010","journal-title":"Curr Biol"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib34","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1080\/15384047.2019.1632637","article-title":"UNC-45A is preferentially expressed in epithelial cells and binds to and co-localizes with interphase MTs","volume":"20","author":"Habicht","year":"2019","journal-title":"Cancer Biol Ther"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib35","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1158\/1541-7786.MCR-18-0670","article-title":"UNC-45A is a novel microtubule-associated protein and regulator of paclitaxel sensitivity in ovarian cancer cells","volume":"17","author":"Mooneyham","year":"2019","journal-title":"Mol Cancer Res"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib36","doi-asserted-by":"crossref","first-page":"G142","DOI":"10.1152\/ajpgi.00041.2016","article-title":"Identification of intestinal ion transport defects in microvillus inclusion disease","volume":"311","author":"Kravtsov","year":"2016","journal-title":"Am J Physiol Gastrointest Liver Physiol"},{"issue":"pt 17","key":"10.1016\/j.jcmgh.2022.04.006_bib37","doi-asserted-by":"crossref","first-page":"2681","DOI":"10.1242\/jcs.111.17.2681","article-title":"Interaction of Munc-18-2 with syntaxin 3 controls the association of apical SNAREs in epithelial cells","volume":"111","author":"Riento","year":"1998","journal-title":"J\u00a0Cell Sci"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib38","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.94564","article-title":"Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations","volume":"2","author":"Vogel","year":"2017","journal-title":"JCI Insight"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib39","doi-asserted-by":"crossref","first-page":"1883","DOI":"10.1053\/j.gastro.2018.08.025","article-title":"Loss of MYO5B leads to reductions in Na+ absorption with maintenance of CFTR-dependent Cl- secretion in enterocytes","volume":"155","author":"Engevik","year":"2018","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib40","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1097\/MPG.0000000000000526","article-title":"Microvillous atrophy: atypical presentations","volume":"59","author":"Perry","year":"2014","journal-title":"J\u00a0Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib41","first-page":"10","article-title":"Congenital diarrhea and cholestatic liver disease: phenotypic spectrum associated with MYO5B mutations","author":"Aldrian","year":"2021","journal-title":"J\u00a0Clin Med"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib42","doi-asserted-by":"crossref","first-page":"23741","DOI":"10.1074\/jbc.M502767200","article-title":"Myosin II regulatory light chain is required for trafficking of bile salt export protein to the apical membrane in Madin-Darby canine kidney cells","volume":"280","author":"Chan","year":"2005","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.jcmgh.2022.04.006_bib43","first-page":"207S","article-title":"Branched-chain amino acids: enzyme and substrate regulation","volume":"136","author":"Brosnan","year":"2006","journal-title":"J\u00a0Nutr"}],"container-title":["Cellular and Molecular Gastroenterology and Hepatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352345X22000716?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352345X22000716?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T18:31:33Z","timestamp":1762453893000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2352345X22000716"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":43,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022]]}},"alternative-id":["S2352345X22000716"],"URL":"https:\/\/doi.org\/10.1016\/j.jcmgh.2022.04.006","relation":{},"ISSN":["2352-345X"],"issn-type":[{"value":"2352-345X","type":"print"}],"subject":[],"published":{"date-parts":[[2022]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A Functional Relationship Between UNC45A and MYO5B Connects Two Rare Diseases With Shared Enteropathy","name":"articletitle","label":"Article Title"},{"value":"Cellular and Molecular Gastroenterology and Hepatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jcmgh.2022.04.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Authors. Published by Elsevier Inc. on behalf of the AGA Institute.","name":"copyright","label":"Copyright"}]}}