{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T07:35:23Z","timestamp":1767339323004},"reference-count":43,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2009,6,1]],"date-time":"2009-06-01T00:00:00Z","timestamp":1243814400000},"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":["Gastroenterology"],"published-print":{"date-parts":[[2009,6]]},"DOI":"10.1053\/j.gastro.2009.01.041","type":"journal-article","created":{"date-parts":[[2009,1,27]],"date-time":"2009-01-27T09:31:33Z","timestamp":1233048693000},"page":"2295-2303","source":"Crossref","is-referenced-by-count":21,"title":["Impaired Trafficking and Subcellular Localization of a Mutant Lactase Associated With Congenital Lactase Deficiency"],"prefix":"10.1053","volume":"136","author":[{"given":"Marc","family":"Behrendt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus","family":"Keiser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melanie","family":"Hoch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hassan Y.","family":"Naim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1053\/j.gastro.2009.01.041_bib1","first-page":"553","article-title":"Molecular and cellular aspects and regulation of intestinal lactase-phlorizin hydrolase","volume":"16","author":"Naim","year":"2001","journal-title":"Histol Histopathol"},{"key":"10.1053\/j.gastro.2009.01.041_bib2","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/S0014-5793(98)01076-X","article-title":"Intestinal lactase-phlorizin hydrolase (LPH): the two catalytic sites; the role of the pancreas in pro-LPH maturation","volume":"435","author":"Zecca","year":"1998","journal-title":"FEBS Lett"},{"key":"10.1053\/j.gastro.2009.01.041_bib3","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/S0014-5793(00)01211-4","article-title":"Dietary flavonoid and isoflavone glycosides are hydrolysed by the lactase site of lactase phlorizin hydrolase","volume":"468","author":"Day","year":"2000","journal-title":"FEBS Lett"},{"key":"10.1053\/j.gastro.2009.01.041_bib4","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1007\/s00394-003-0397-3","article-title":"Deglycosylation by small intestinal epithelial cell \u03b2-glucosidases is a critical step in the absorption and metabolism of dietary flavonoid glycosides in humans","volume":"42","author":"Nemeth","year":"2003","journal-title":"Eur J Nutr"},{"key":"10.1053\/j.gastro.2009.01.041_bib5","doi-asserted-by":"crossref","first-page":"2705","DOI":"10.1002\/j.1460-2075.1988.tb03124.x","article-title":"Complete primary structure of human and rabbit lactase-phlorizin hydrolase: implications for biosynthesis, membrane anchoring and evolution of the enzyme","volume":"7","author":"Mantei","year":"1988","journal-title":"EMBO J"},{"key":"10.1053\/j.gastro.2009.01.041_bib6","first-page":"198","article-title":"Dimerization of lactase-phlorizin hydrolase occurs in the endoplasmic reticulum, involves the putative membrane spanning domain, and is required for an efficient transport of the enzyme to the cell surface","volume":"70","author":"Naim","year":"1996","journal-title":"Eur J Cell Biol"},{"key":"10.1053\/j.gastro.2009.01.041_bib7","doi-asserted-by":"crossref","first-page":"12313","DOI":"10.1016\/S0021-9258(18)98898-8","article-title":"Expression of a full-length cDNA coding for human intestinal lactase-phlorizin hydrolase reveals an uncleaved, enzymatically active, and transport-competent protein","volume":"266","author":"Naim","year":"1991","journal-title":"J Biol Chem"},{"key":"10.1053\/j.gastro.2009.01.041_bib8","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1083\/jcb.101.3.838","article-title":"Expression and intracellular transport of microvillus membrane hydrolases in human intestinal epithelial cells","volume":"101","author":"Hauri","year":"1985","journal-title":"J Cell Biol"},{"key":"10.1053\/j.gastro.2009.01.041_bib9","doi-asserted-by":"crossref","first-page":"25494","DOI":"10.1016\/S0021-9258(19)74068-X","article-title":"Impact of O-glycosylation on the function of human intestinal lactase-phlorizin hydrolase","volume":"267","author":"Naim","year":"1992","journal-title":"J Biol Chem"},{"key":"10.1053\/j.gastro.2009.01.041_bib10","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1006\/abbi.1996.0528","article-title":"Proteolytic processing of human lactase-phlorizin hydrolase is a two-step event: identification of the cleavage sites","volume":"336","author":"Wuthrich","year":"1996","journal-title":"Arch Biochem Biophys"},{"key":"10.1053\/j.gastro.2009.01.041_bib11","first-page":"G379","article-title":"Intestinal lactase expression and epithelial cell transit in hormone-treated suckling rats","volume":"260","author":"Yeh","year":"1991","journal-title":"Am J Physiol"},{"key":"10.1053\/j.gastro.2009.01.041_bib12","doi-asserted-by":"crossref","first-page":"26933","DOI":"10.1016\/S0021-9258(18)47109-8","article-title":"The pro region of human intestinal lactase-phlorizin hydrolase","volume":"269","author":"Naim","year":"1994","journal-title":"J Biol Chem"},{"key":"10.1053\/j.gastro.2009.01.041_bib13","first-page":"24A","article-title":"Some metabolic effects of ingesting galactose, before and after a high-lactose diet","volume":"37","author":"Phillips","year":"1978","journal-title":"Proc Nutr Soc"},{"key":"10.1053\/j.gastro.2009.01.041_bib14","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1159\/000171144","article-title":"Food intolerance and gastrointestinal disease in infancy: personal practice","volume":"4","author":"Digeon","year":"1986","journal-title":"Dig Dis"},{"key":"10.1053\/j.gastro.2009.01.041_bib15","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1146\/annurev.me.41.020190.001041","article-title":"Lactose intolerance","volume":"41","author":"Buller","year":"1990","journal-title":"Annu Rev Med"},{"key":"10.1053\/j.gastro.2009.01.041_bib16","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1159\/000472271","article-title":"DNA polymorphisms in the lactase gene","volume":"3","author":"Harvey","year":"1995","journal-title":"Eur J Hum Genet"},{"key":"10.1053\/j.gastro.2009.01.041_bib17","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1093\/hmg\/4.4.657","article-title":"The lactase persistence\/non-persistence polymorphism is controlled by a cis-acting element","volume":"4","author":"Wang","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1053\/j.gastro.2009.01.041_bib18","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1111\/j.1753-4887.2007.tb00286.x","article-title":"Molecular differentiation of congenital lactase deficiency from adult-type hypolactasia","volume":"65","author":"Robayo-Torres","year":"2007","journal-title":"Nutr Rev"},{"key":"10.1053\/j.gastro.2009.01.041_bib19","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1016\/S0140-6736(59)90710-X","article-title":"Defective lactose absorption causing malnutrition in infancy","volume":"1","author":"Holzel","year":"1959","journal-title":"Lancet"},{"key":"10.1053\/j.gastro.2009.01.041_bib20","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1136\/adc.58.4.246","article-title":"Congenital lactase deficiency","volume":"58","author":"Savilahti","year":"1983","journal-title":"Arch Dis Child"},{"key":"10.1053\/j.gastro.2009.01.041_bib21","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/S0022-3476(66)80325-6","article-title":"Congenital lactase deficiency","volume":"69","author":"Lifshitz","year":"1966","journal-title":"J Pediatr"},{"key":"10.1053\/j.gastro.2009.01.041_bib22","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1086\/500053","article-title":"Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency","volume":"78","author":"Kuokkanen","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1053\/j.gastro.2009.01.041_bib23","doi-asserted-by":"crossref","first-page":"14393","DOI":"10.1074\/jbc.M513631200","article-title":"Altered folding, turnover, and polarized sorting act in concert to define a novel pathomechanism of congenital sucrase-isomaltase deficiency","volume":"281","author":"Keiser","year":"2006","journal-title":"J Biol Chem"},{"key":"10.1053\/j.gastro.2009.01.041_bib24","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1016\/j.bbadis.2006.01.007","article-title":"Ex vivo biochemical analysis of CFTR in human rectal biopsies","volume":"1762","author":"van Barneveld","year":"2006","journal-title":"Biochim Biophys Acta"},{"key":"10.1053\/j.gastro.2009.01.041_bib25","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1016\/S0022-3476(95)70028-5","article-title":"Hypercalcemia and nephrocalcinosis in patients with congenital lactase deficiency","volume":"127","author":"Saarela","year":"1995","journal-title":"J Pediatr"},{"key":"10.1053\/j.gastro.2009.01.041_bib26","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/0016-5085(91)90203-W","article-title":"Mosaic pattern of lactase expression by villous enterocytes in human adult-type hypolactasia","volume":"100","author":"Maiuri","year":"1991","journal-title":"Gastroenterology"},{"key":"10.1053\/j.gastro.2009.01.041_bib27","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1042\/bj2410427","article-title":"Biosynthesis and maturation of lactase-phlorizin hydrolase in the human small intestinal epithelial cells","volume":"241","author":"Naim","year":"1987","journal-title":"Biochem J"},{"key":"10.1053\/j.gastro.2009.01.041_bib28","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1172\/JCI113646","article-title":"Sucrase-isomaltase deficiency in humans","volume":"82","author":"Naim","year":"1988","journal-title":"J Clin Invest"},{"key":"10.1053\/j.gastro.2009.01.041_bib29","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1083\/jcb.115.1.45","article-title":"Naturally occurring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit","volume":"115","author":"Fransen","year":"1991","journal-title":"J Cell Biol"},{"key":"10.1053\/j.gastro.2009.01.041_bib30","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.cell.2007.11.023","article-title":"Dissecting the ER-associated degradation of a misfolded polytopic membrane protein","volume":"132","author":"Nakatsukasa","year":"2008","journal-title":"Cell"},{"key":"10.1053\/j.gastro.2009.01.041_bib31","doi-asserted-by":"crossref","first-page":"2775","DOI":"10.1242\/jcs.02364","article-title":"A phenylalanine-based folding determinant in intestinal sucrase-isomaltase that functions in the context of a quality control mechanism beyond the endoplasmic reticulum","volume":"118","author":"Propsting","year":"2005","journal-title":"J Cell Sci"},{"key":"10.1053\/j.gastro.2009.01.041_bib32","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1016\/0092-8674(90)90148-8","article-title":"Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis","volume":"63","author":"Cheng","year":"1990","journal-title":"Cell"},{"key":"10.1053\/j.gastro.2009.01.041_bib33","doi-asserted-by":"crossref","first-page":"1957","DOI":"10.1083\/jcb.105.5.1957","article-title":"Role for adenosine triphosphate in regulating the assembly and transport of vesicular stomatitis virus G-protein trimers","volume":"105","author":"Doms","year":"1987","journal-title":"J Cell Biol"},{"key":"10.1053\/j.gastro.2009.01.041_bib34","doi-asserted-by":"crossref","first-page":"8217","DOI":"10.1074\/jbc.M111500200","article-title":"The prosequence of human lactase-phlorizin hydrolase modulates the folding of the mature enzyme","volume":"277","author":"Jacob","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1053\/j.gastro.2009.01.041_bib35","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1038\/nrm1052","article-title":"Quality control in the endoplasmic reticulum","volume":"4","author":"Ellgaard","year":"2003","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1053\/j.gastro.2009.01.041_bib36","doi-asserted-by":"crossref","first-page":"10630","DOI":"10.1074\/jbc.275.14.10630","article-title":"Additional N-glycosylation and its impact on the folding of intestinal lactase-phlorizin hydrolase","volume":"275","author":"Jacob","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1053\/j.gastro.2009.01.041_bib37","doi-asserted-by":"crossref","first-page":"43159","DOI":"10.1074\/jbc.M508262200","article-title":"Recombinant addition of N-glycosylation sites to the basolateral Na,K-ATPase \u03b21 subunit results in its clustering in caveolae and apical sorting in HGT-1 cells","volume":"280","author":"Vagin","year":"2005","journal-title":"J Biol Chem"},{"key":"10.1053\/j.gastro.2009.01.041_bib38","doi-asserted-by":"crossref","first-page":"8229","DOI":"10.1074\/jbc.M708735200","article-title":"Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding","volume":"283","author":"Gelsthorpe","year":"2008","journal-title":"J Biol Chem"},{"key":"10.1053\/j.gastro.2009.01.041_bib39","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/S0168-8278(03)00483-5","article-title":"A progressive familial intrahepatic cholestasis type 2 mutation causes an unstable, temperature-sensitive bile salt export pump","volume":"40","author":"Plass","year":"2004","journal-title":"J Hepatol"},{"key":"10.1053\/j.gastro.2009.01.041_bib40","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1126\/science.1093941","article-title":"Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects","volume":"304","author":"Egan","year":"2004","journal-title":"Science"},{"key":"10.1053\/j.gastro.2009.01.041_bib41","doi-asserted-by":"crossref","first-page":"51232","DOI":"10.1074\/jbc.M309076200","article-title":"Organic solutes rescue the functional defect in deltaF508 cystic fibrosis transmembrane conductance regulator","volume":"278","author":"Zhang","year":"2003","journal-title":"J Biol Chem"},{"key":"10.1053\/j.gastro.2009.01.041_bib42","doi-asserted-by":"crossref","first-page":"L52","DOI":"10.1152\/ajplung.2001.281.1.L52","article-title":"Partial restoration of defective chloride conductance in DeltaF508 CF mice by trimethylamine oxide","volume":"281","author":"Fischer","year":"2001","journal-title":"Am J Physiol Lung Cell Mol Physiol"},{"key":"10.1053\/j.gastro.2009.01.041_bib43","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1053\/j.gastro.2008.11.038","article-title":"Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency","volume":"136","author":"Alfalah","year":"2009","journal-title":"Gastroenterology"}],"container-title":["Gastroenterology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0016508509001425?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0016508509001425?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,9,30]],"date-time":"2021-09-30T15:51:31Z","timestamp":1633017091000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0016508509001425"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,6]]},"references-count":43,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2009,6]]}},"alternative-id":["S0016508509001425"],"URL":"https:\/\/doi.org\/10.1053\/j.gastro.2009.01.041","relation":{},"ISSN":["0016-5085"],"issn-type":[{"value":"0016-5085","type":"print"}],"subject":[],"published":{"date-parts":[[2009,6]]}}}