{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T22:35:26Z","timestamp":1790980526554,"version":"4.1.0"},"reference-count":57,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2004,7,1]],"date-time":"2004-07-01T00:00:00Z","timestamp":1088640000000},"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":["Trends in Endocrinology &amp; Metabolism"],"published-print":{"date-parts":[[2004,7]]},"DOI":"10.1016\/j.tem.2004.05.003","type":"journal-article","created":{"date-parts":[[2004,6,15]],"date-time":"2004-06-15T19:32:24Z","timestamp":1087327944000},"page":"222-228","source":"Crossref","is-referenced-by-count":237,"title":["Pharmacological chaperones: potential treatment for conformational diseases"],"prefix":"10.1016","volume":"15","author":[{"given":"Virginie","family":"Bernier","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Lagac\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel G","family":"Bichet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Bouvier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.tem.2004.05.003_BIB1","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1016\/S0140-6736(97)02073-4","article-title":"Conformational disease","volume":"350","author":"Carrell","year":"1997","journal-title":"Lancet"},{"key":"10.1016\/j.tem.2004.05.003_BIB2","doi-asserted-by":"crossref","first-page":"E207","DOI":"10.1038\/35041139","article-title":"Conformational disease","volume":"2","author":"Kopito","year":"2000","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.tem.2004.05.003_BIB3","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1038\/nature02264","article-title":"Folding proteins in fatal ways","volume":"426","author":"Selkoe","year":"2003","journal-title":"Nature"},{"key":"10.1016\/j.tem.2004.05.003_BIB4","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1038\/nature02262","article-title":"Quality control in the endoplasmic reticulum protein factory","volume":"426","author":"Sitia","year":"2003","journal-title":"Nature"},{"key":"10.1016\/j.tem.2004.05.003_BIB5","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1379\/1466-1268(1996)001<0109:IOMACC>2.3.CO;2","article-title":"Influence of molecular and chemical chaperones on protein folding","volume":"1","author":"Welch","year":"1996","journal-title":"Cell Stress Chaperones"},{"key":"10.1016\/j.tem.2004.05.003_BIB6","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1016\/S0165-6147(00)01575-3","article-title":"Pharmacological chaperones: a new twist on receptor folding","volume":"21","author":"Morello","year":"2000","journal-title":"Trends Pharmacol. Sci."},{"key":"10.1016\/j.tem.2004.05.003_BIB7","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1038\/nature02265","article-title":"Therapeutic approaches to protein-misfolding diseases","volume":"426","author":"Cohen","year":"2003","journal-title":"Nature"},{"key":"10.1016\/j.tem.2004.05.003_BIB8","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1124\/mi.2.5.308","article-title":"Protein origami: therapeutic rescue of misfolded gene products","volume":"2","author":"Conn","year":"2002","journal-title":"Mol. Intervent."},{"key":"10.1016\/j.tem.2004.05.003_BIB9","first-page":"493","article-title":"Molecular chaperones: biology and prospects for pharmacological intervention","volume":"50","author":"Smith","year":"1998","journal-title":"Pharmacol. Rev."},{"key":"10.1016\/j.tem.2004.05.003_BIB10","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1038\/nrn1007","article-title":"Unfolding the role of protein misfolding in neurodegenerative diseases","volume":"4","author":"Soto","year":"2003","journal-title":"Nat. Rev. Neurosci."},{"key":"10.1016\/j.tem.2004.05.003_BIB11","doi-asserted-by":"crossref","first-page":"S167","DOI":"10.1152\/physrev.1999.79.1.S167","article-title":"Biosynthesis and degradation of CFTR","volume":"79","author":"Kopito","year":"1999","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.tem.2004.05.003_BIB12","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1038\/358761a0","article-title":"Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive","volume":"358","author":"Denning","year":"1992","journal-title":"Nature"},{"key":"10.1016\/j.tem.2004.05.003_BIB13","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1074\/jbc.271.2.635","article-title":"Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation","volume":"271","author":"Sato","year":"1996","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tem.2004.05.003_BIB14","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1379\/1466-1268(1996)001<0117:CCCTMP>2.3.CO;2","article-title":"Chemical chaperones correct the mutant phenotype of the \u0394F508 cystic fibrosis transmembrane conductance regulator protein","volume":"1","author":"Brown","year":"1996","journal-title":"Cell Stress Chaperones"},{"key":"10.1016\/j.tem.2004.05.003_BIB15","doi-asserted-by":"crossref","first-page":"28683","DOI":"10.1016\/S0021-9258(19)61959-9","article-title":"Prolonged association of temperature-sensitive mutants of human P-glycoprotein with calnexin during biogenesis","volume":"269","author":"Loo","year":"1994","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tem.2004.05.003_BIB16","doi-asserted-by":"crossref","first-page":"21839","DOI":"10.1074\/jbc.270.37.21839","article-title":"P-glycoprotein. Associations between domains and between domains and molecular chaperones","volume":"270","author":"Loo","year":"1995","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tem.2004.05.003_BIB17","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/S0005-2736(99)00165-0","article-title":"Determining the structure and mechanism of the human multidrug resistance P-glycoprotein using cysteine-scanning mutagenesis and thiol- modification techniques","volume":"1461","author":"Loo","year":"1999","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.tem.2004.05.003_BIB18","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1172\/JCI8688","article-title":"Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants","volume":"105","author":"Morello","year":"2000","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.tem.2004.05.003_BIB19","doi-asserted-by":"crossref","first-page":"1029S","DOI":"10.1093\/ajcn\/67.5.1029S","article-title":"Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency","volume":"67","author":"Kaler","year":"1998","journal-title":"Am. J. Clin. Nutr."},{"key":"10.1016\/j.tem.2004.05.003_BIB20","doi-asserted-by":"crossref","first-page":"44079","DOI":"10.1074\/jbc.M208737200","article-title":"A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation","volume":"277","author":"Kim","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tem.2004.05.003_BIB21","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1126\/science.7716548","article-title":"Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy","volume":"268","author":"Thomas","year":"1995","journal-title":"Science"},{"key":"10.1016\/j.tem.2004.05.003_BIB22","doi-asserted-by":"crossref","first-page":"35947","DOI":"10.1074\/jbc.M104762200","article-title":"Identification and pharmacological correction of a membrane trafficking defect associated with a mutation in the sulfonylurea receptor causing familial hyperinsulinism","volume":"276","author":"Partridge","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tem.2004.05.003_BIB23","doi-asserted-by":"crossref","first-page":"E207","DOI":"10.1152\/ajpendo.00047.2002","article-title":"K(ATP) channels and insulin secretion disorders","volume":"283","author":"Huopio","year":"2002","journal-title":"Am. J. Physiol. Endocrinol. Metab."},{"key":"10.1016\/j.tem.2004.05.003_BIB24","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1146\/annurev.physiol.63.1.607","article-title":"Nephrogenic diabetes insipidus","volume":"63","author":"Morello","year":"2001","journal-title":"Annu. Rev. Physiol."},{"key":"10.1016\/j.tem.2004.05.003_BIB25","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1517\/14728222.7.2.175","article-title":"Misrouted cell surface receptors as a novel disease aetiology and potential therapeutic target: the case of hypogonadotropic hypogonadism due to gonadotropin-releasing hormone resistance","volume":"7","author":"Ulloa-Aguirre","year":"2003","journal-title":"Expert Opin. Ther. Targets"},{"key":"10.1016\/j.tem.2004.05.003_BIB26","doi-asserted-by":"crossref","first-page":"3255","DOI":"10.1210\/jc.87.7.3255","article-title":"Rescue of hypogonadotropic hypogonadism-causing and manufactured GnRH receptor mutants by a specific protein-folding template: misrouted proteins as a novel disease etiology and therapeutic target","volume":"87","author":"Janovick","year":"2002","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.tem.2004.05.003_BIB27","doi-asserted-by":"crossref","unstructured":"Desnick, R.J. et al. (2001) \u03b1-Galactosidase A deficiency: Fabry disease. In The Metabolic and Molecular Bases of Inherited Disease (Seriver, C.R. et al., eds), pp. 9733\u20133774, McGraw-Hill.","DOI":"10.1006\/rwgn.2001.0443"},{"key":"10.1016\/j.tem.2004.05.003_BIB28","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1006\/bbrc.1996.0486","article-title":"Aggregation of the inactive form of human \u03b1-galactosidase in the endoplasmic reticulum","volume":"220","author":"Ishii","year":"1996","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.tem.2004.05.003_BIB29","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1038\/4801","article-title":"Accelerated transport and maturation of lysosomal \u03b1-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor","volume":"5","author":"Fan","year":"1999","journal-title":"Nat. Med."},{"key":"10.1016\/j.tem.2004.05.003_BIB30","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1056\/NEJM200107053450104","article-title":"Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy","volume":"345","author":"Frustaci","year":"2001","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.tem.2004.05.003_BIB31","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"3775","article-title":"\u03b2-Galactosidase deficiency (\u03b2-galactosidosis): GM1-gangliosidosis and Morquio B disease","author":"Suzuki","year":"2001"},{"key":"10.1016\/j.tem.2004.05.003_BIB32","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/S0387-7604(01)00216-9","article-title":"Galactonojirimycin derivatives restore mutant human \u03b2-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse","volume":"23","author":"Tominaga","year":"2001","journal-title":"Brain Dev."},{"key":"10.1016\/j.tem.2004.05.003_BIB33","doi-asserted-by":"crossref","first-page":"15912","DOI":"10.1073\/pnas.2536657100","article-title":"Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis","volume":"100","author":"Matsuda","year":"2003","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.tem.2004.05.003_BIB34","first-page":"3","article-title":"Gaucher disease: from fundamental research to effective therapeutic interventions","volume":"61","author":"de Fost","year":"2003","journal-title":"Neth. J. Med."},{"key":"10.1016\/j.tem.2004.05.003_BIB35","doi-asserted-by":"crossref","first-page":"15428","DOI":"10.1073\/pnas.192582899","article-title":"Chemical chaperones increase the cellular activity of N370S \u03b2-glucosidase: a therapeutic strategy for Gaucher disease","volume":"99","author":"Sawkar","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.tem.2004.05.003_BIB36","doi-asserted-by":"crossref","first-page":"4073","DOI":"10.1242\/jcs.114.22.4073","article-title":"Correction of delF508-CFTR activity with benzo(c)quinolizinium compounds through facilitation of its processing in cystic fibrosis airway cells","volume":"114","author":"Dormer","year":"2001","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.tem.2004.05.003_BIB37","doi-asserted-by":"crossref","first-page":"19723","DOI":"10.1074\/jbc.M101892200","article-title":"Novel CFTR chloride channel activators identified by screening of combinatorial libraries based on flavone and benzoquinolizinium lead compounds","volume":"276","author":"Galietta","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tem.2004.05.003_BIB38","doi-asserted-by":"crossref","first-page":"15571","DOI":"10.1074\/jbc.M314160200","article-title":"The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier disease","volume":"279","author":"Neufeld","year":"2004","journal-title":"J Biol. Chem."},{"key":"10.1016\/j.tem.2004.05.003_BIB39","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1007\/s00018-002-8486-7","article-title":"Cellular and molecular aspects of Zellweger syndrome and other peroxisome biogenesis disorders","volume":"59","author":"Brosius","year":"2002","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.tem.2004.05.003_BIB40","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1002\/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7","article-title":"Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene","volume":"9","author":"Myerowitz","year":"1997","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.tem.2004.05.003_BIB41","first-page":"59","article-title":"Syndromic and non-syndromic deafness, molecular aspects of Pendred syndrome and its reported mutations","volume":"15","author":"Shaukat","year":"2003","journal-title":"J. Ayub Med. Coll. Abbottabad"},{"key":"10.1016\/j.tem.2004.05.003_BIB42","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1056\/NEJMra021561","article-title":"Congenital adrenal hyperplasia","volume":"349","author":"Speiser","year":"2003","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.tem.2004.05.003_BIB43","doi-asserted-by":"crossref","first-page":"10693","DOI":"10.1074\/jbc.274.16.10693","article-title":"Trimethylamine N-oxide-induced cooperative folding of an intrinsically unfolded transcription-activating fragment of human glucocorticoid receptor","volume":"274","author":"Baskakov","year":"1999","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tem.2004.05.003_BIB44","doi-asserted-by":"crossref","first-page":"1796","DOI":"10.1073\/pnas.97.4.1796","article-title":"Chemical chaperones mediate increased secretion of mutant \u03b11-antitrypsin (\u03b11-AT) Z: a potential pharmacological strategy for prevention of liver injury and emphysema in \u03b11-AT deficiency","volume":"97","author":"Burrows","year":"2000","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.tem.2004.05.003_BIB45","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1006\/nbdi.2002.0502","article-title":"Chemical chaperones reduce aggregate formation and cell death caused by the truncated Machado-Joseph disease gene product with an expanded polyglutamine stretch","volume":"10","author":"Yoshida","year":"2002","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.tem.2004.05.003_BIB46","doi-asserted-by":"crossref","first-page":"40241","DOI":"10.1074\/jbc.M107242200","article-title":"Natural osmolyte trimethylamine N-oxide corrects assembly defects of mutant branched-chain \u03b1-ketoacid decarboxylase in maple syrup urine disease","volume":"276","author":"Song","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tem.2004.05.003_BIB47","doi-asserted-by":"crossref","first-page":"34825","DOI":"10.1074\/jbc.274.49.34825","article-title":"Misfolding of mutant aquaporin-2 water channels in nephrogenic diabetes insipidus","volume":"274","author":"Tamarappoo","year":"1999","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tem.2004.05.003_BIB48","doi-asserted-by":"crossref","first-page":"35678","DOI":"10.1074\/jbc.M301888200","article-title":"Appropriate polarization following pharmacological rescue of v2 vasopressin receptors encoded by X-linked nephrogenic diabetes insipidus alleles involves a conformation of the receptor that also attains mature glycosylation","volume":"278","author":"Tan","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tem.2004.05.003_BIB49","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1016\/0092-8674(95)90358-5","article-title":"A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome","volume":"80","author":"Curran","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.tem.2004.05.003_BIB50","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1016\/S0140-6736(99)11419-3","article-title":"Reversion of prion protein conformational changes by synthetic \u03b2-sheet breaker peptides","volume":"355","author":"Soto","year":"2000","journal-title":"Lancet"},{"key":"10.1016\/j.tem.2004.05.003_BIB51","doi-asserted-by":"crossref","first-page":"9836","DOI":"10.1073\/pnas.161274798","article-title":"Acridine and phenothiazine derivatives as pharmacotherapeutics for prion disease","volume":"98","author":"Korth","year":"2001","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.tem.2004.05.003_BIB52","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1097\/01.LAB.0000074919.08232.A2","article-title":"Differential inhibition of prion propagation by enantiomers of quinacrine","volume":"83","author":"Ryou","year":"2003","journal-title":"Lab. Invest."},{"key":"10.1016\/j.tem.2004.05.003_BIB53","doi-asserted-by":"crossref","first-page":"14442","DOI":"10.1074\/jbc.M300087200","article-title":"Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa","volume":"278","author":"Noorwez","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tem.2004.05.003_BIB54","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1126\/science.1079589","article-title":"Prevention of transthyretin amyloid disease by changing protein misfolding energetics","volume":"299","author":"Hammarstrom","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.tem.2004.05.003_BIB55","doi-asserted-by":"crossref","first-page":"2743","DOI":"10.1101\/gad.1025302","article-title":"Inhibition of Hedgehog signaling by direct binding of cyclopamine to smoothened","volume":"16","author":"Chen","year":"2002","journal-title":"Genes Dev."},{"key":"10.1016\/j.tem.2004.05.003_BIB56","doi-asserted-by":"crossref","first-page":"40933","DOI":"10.1074\/jbc.M104979200","article-title":"Recovering antibody secretion using a hapten ligand as a chemical chaperone","volume":"276","author":"Wiens","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.tem.2004.05.003_BIB57","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.1093\/emboj\/21.7.1628","article-title":"Ligands act as pharmacological chaperones and increase the efficiency of \u03b4 opioid receptor maturation","volume":"21","author":"Petaja-Repo","year":"2002","journal-title":"EMBO J."}],"container-title":["Trends in Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1043276004000876?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1043276004000876?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,6,23]],"date-time":"2021-06-23T10:03:59Z","timestamp":1624442639000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1043276004000876"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,7]]},"references-count":57,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2004,7]]}},"alternative-id":["S1043276004000876"],"URL":"https:\/\/doi.org\/10.1016\/j.tem.2004.05.003","relation":{},"ISSN":["1043-2760"],"issn-type":[{"value":"1043-2760","type":"print"}],"subject":[],"published":{"date-parts":[[2004,7]]}}}