{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T23:47:47Z","timestamp":1791244067052,"version":"4.1.0"},"reference-count":57,"publisher":"Hindawi Limited","issue":"12","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":2100,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2009,12]]},"DOI":"10.1002\/humu.21121","type":"journal-article","created":{"date-parts":[[2009,9,4]],"date-time":"2009-09-04T14:33:46Z","timestamp":1252074826000},"page":"1683-1692","source":"Crossref","is-referenced-by-count":84,"title":["The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase"],"prefix":"10.1155","volume":"30","author":[{"given":"John J.","family":"Flanagan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyang","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsten","family":"Mascioli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Donaudy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Rosaria","family":"Tuzzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Fontana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Vittoria","family":"Cubellis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Porto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elfrida","family":"Benjamin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Lockhart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth J.","family":"Valenzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Generoso","family":"Andria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giancarlo","family":"Parenti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hung V.","family":"Do","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","reference":[{"key":"10.1002\/humu.21121-BIB1","doi-asserted-by":"crossref","first-page":"4179","DOI":"10.1046\/j.1432-1327.2000.01457.x","article-title":"In vitro inhibition and intracellular enhancement of lysosomal alpha-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives","volume":"267","author":"Asano","year":"2000","journal-title":"Eur J Biochem"},{"key":"10.1002\/humu.21121-BIB2","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1007\/s10545-009-1077-0","article-title":"The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines","volume":"32","author":"Benjamin","year":"2009","journal-title":"J Inherit Metab Dis"},{"key":"10.1002\/humu.21121-BIB3","doi-asserted-by":"crossref","first-page":"1815","DOI":"10.1093\/hmg\/7.11.1815","article-title":"Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice","volume":"7","author":"Bijvoet","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.21121-BIB4","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/1755-8417-1-6","article-title":"Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts","volume":"1","author":"Cardone","year":"2008","journal-title":"Pathogenetics"},{"key":"10.1002\/humu.21121-BIB5","doi-asserted-by":"crossref","first-page":"1487","DOI":"10.1016\/j.jmb.2004.08.022","article-title":"Distinguishing structural and functional restraints in evolution in order to identify interaction sites","volume":"342","author":"Chelliah","year":"2004","journal-title":"J Mol Biol"},{"key":"10.1002\/humu.21121-BIB6","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1002\/prot.20810","article-title":"Prediction of protein stability changes for single-site mutations using support vector machines","volume":"62","author":"Cheng","year":"2006","journal-title":"Proteins"},{"key":"10.1002\/humu.21121-BIB7","doi-asserted-by":"crossref","first-page":"3099","DOI":"10.1016\/0006-2952(73)90196-2","article-title":"Relationship between the inhibition constant (K1) and the concentration of inhibitor which causes 50 per cent inhibition (I50) of an enzymatic reaction","volume":"22","author":"Cheng","year":"1973","journal-title":"Biochem Pharmacol"},{"key":"10.1002\/humu.21121-BIB8","doi-asserted-by":"crossref","first-page":"S8","DOI":"10.1186\/1471-2105-6-S4-S8","article-title":"Secondary structure assignment that accurately reflects physical and evolutionary characteristics","volume":"6","author":"Cubellis","year":"2005","journal-title":"BMC Bioinformatics"},{"key":"10.1002\/humu.21121-BIB9","doi-asserted-by":"crossref","first-page":"9419","DOI":"10.1073\/pnas.0902534106","article-title":"Neural deficits contribute to respiratory insufficiency in Pompe disease","volume":"106","author":"DeRuisseau","year":"2009","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.21121-BIB10","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1016\/j.jbiomech.2004.05.040","article-title":"Effects of non-contractile inclusions on mechanical performance of skeletal muscle","volume":"38","author":"Drost","year":"2005","journal-title":"J Biomech"},{"key":"10.1002\/humu.21121-BIB11","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":"10.1002\/humu.21121-BIB12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1515\/BC.2008.009","article-title":"A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity","volume":"389","author":"Fan","year":"2008","journal-title":"Biol Chem"},{"key":"10.1002\/humu.21121-BIB13","first-page":"A308","article-title":"Intracellular enhancement of \u00ce\u00b2-galactosidase A activity in 31 Fabry lymphoblasts and fibroblasts by 1-deoxy-galactonojirimycin","volume":"65","author":"Fan","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21121-BIB14","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.ymthe.2006.08.009","article-title":"Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in pompe disease","volume":"14","author":"Fukuda","year":"2006","journal-title":"Mol Ther"},{"key":"10.1002\/humu.21121-BIB15","doi-asserted-by":"crossref","first-page":"2714","DOI":"10.1002\/elps.1150181505","article-title":"SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling","volume":"18","author":"Guex","year":"1997","journal-title":"Electrophoresis"},{"issue":"Pt 3","key":"10.1002\/humu.21121-BIB16","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1093\/brain\/awh384","article-title":"Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients","volume":"128","author":"Hagemans","year":"2005","journal-title":"Brain"},{"key":"10.1002\/humu.21121-BIB17","doi-asserted-by":"crossref","first-page":"4937","DOI":"10.1016\/S0021-9258(19)85585-0","article-title":"Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight","volume":"255","author":"Hasilik","year":"1980","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21121-BIB18","doi-asserted-by":"crossref","first-page":"1487","DOI":"10.1007\/s11095-007-9516-9","article-title":"Extrinsic fluorescent dyes as tools for protein characterization","volume":"25","author":"Hawe","year":"2008","journal-title":"Pharm Res"},{"key":"10.1002\/humu.21121-BIB19","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/humu.10286","article-title":"Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II","volume":"23","author":"Hermans","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21121-BIB20","volume-title":"The metabolic and molecular bases of inherited disease online","author":"Hirschhorn","year":"2001"},{"key":"10.1002\/humu.21121-BIB21","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1038\/381272a0","article-title":"Errors in protein structures","volume":"381","author":"Hooft","year":"1996","journal-title":"Nature"},{"key":"10.1002\/humu.21121-BIB22","doi-asserted-by":"crossref","first-page":"2231","DOI":"10.1093\/hmg\/3.12.2231","article-title":"Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (\u00e2\u0088\u009213T>G) mutation in a majority of patients and a novel IVS10 (+1GT>CT) mutation","volume":"3","author":"Huie","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.21121-BIB23","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1212\/01.wnl.0000251268.41188.04","article-title":"Recombinant human acid alpha-glucosidase: major clinical benefits in infantile-onset Pompe disease","volume":"68","author":"Kishnani","year":"2007","journal-title":"Neurology"},{"key":"10.1002\/humu.21121-BIB24","doi-asserted-by":"crossref","first-page":"S35","DOI":"10.1016\/j.jpeds.2004.01.053","article-title":"Pompe disease in infants and children","volume":"144","author":"Kishnani","year":"2004","journal-title":"J Pediatr"},{"key":"10.1002\/humu.21121-BIB25","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.jpeds.2006.02.035","article-title":"Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease","volume":"149","author":"Kishnani","year":"2006","journal-title":"J Pediatr"},{"key":"10.1002\/humu.21121-BIB26","doi-asserted-by":"crossref","first-page":"2643","DOI":"10.1002\/cbic.200800249","article-title":"Isofagomine induced stabilization of glucocerebrosidase","volume":"9","author":"Kornhaber","year":"2008","journal-title":"ChemBioChem"},{"key":"10.1002\/humu.21121-BIB27","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1212\/01.wnl.0000252798.25690.76","article-title":"Broad spectrum of Pompe disease in patients with the same c.\u00e2\u0088\u009232-13T>G haplotype","volume":"68","author":"Kroos","year":"2007","journal-title":"Neurology"},{"key":"10.1002\/humu.21121-BIB28","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1006\/jmbi.1993.1351","article-title":"Main-chain bond lengths and bond angles in protein structures","volume":"231","author":"Laskowski","year":"1993","journal-title":"J Mol Biol"},{"key":"10.1002\/humu.21121-BIB29","doi-asserted-by":"crossref","first-page":"2105","DOI":"10.1074\/jbc.M410468200","article-title":"Mechanistic and structural analysis of a family 31 alpha-glycosidase and its glycosyl-enzyme intermediate","volume":"280","author":"Lovering","year":"2005","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21121-BIB30","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0167-4838(00)00302-2","article-title":"Relationship of sequence and structure to specificity in the alpha-amylase family of enzymes","volume":"1546","author":"MacGregor","year":"2001","journal-title":"Biochim Biophys Acta"},{"key":"10.1002\/humu.21121-BIB31","doi-asserted-by":"crossref","first-page":"15912","DOI":"10.1073\/pnas.2536657100","article-title":"Chemical chaperone therapy for brain pathology in GM1-gangliosidosis","volume":"100","author":"Matsuda","year":"2003","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.21121-BIB32","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1093\/bioinformatics\/14.7.617","article-title":"JOY: protein sequence-structure representation and analysis","volume":"14","author":"Mizuguchi","year":"1998","journal-title":"Bioinformatics"},{"key":"10.1002\/humu.21121-BIB33","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1002\/humu.20374","article-title":"Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II","volume":"27","author":"Montalvo","year":"2006","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21121-BIB34","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.ymgme.2003.11.011","article-title":"Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease","volume":"81","author":"Montalvo","year":"2004","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.21121-BIB35","doi-asserted-by":"crossref","first-page":"6780","DOI":"10.1074\/jbc.M404008200","article-title":"Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor","volume":"280","author":"Moreland","year":"2005","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21121-BIB36","doi-asserted-by":"crossref","first-page":"2212","DOI":"10.1038\/nprot.2007.321","article-title":"The use of differential scanning fluorimetry to detect ligand interactions that promote protein stability","volume":"2","author":"Niesen","year":"2007","journal-title":"Nat Protoc"},{"key":"10.1002\/humu.21121-BIB37","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.ymgme.2006.09.010","article-title":"Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II","volume":"90","author":"Okumiya","year":"2007","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.21121-BIB38","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1038\/sj.mt.6300074","article-title":"Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease","volume":"15","author":"Parenti","year":"2007","journal-title":"Mol Ther"},{"key":"10.1002\/humu.21121-BIB39","doi-asserted-by":"crossref","first-page":"E27","DOI":"10.1002\/humu.20753","article-title":"Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease","volume":"29","author":"Pittis","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21121-BIB40","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1038\/mt.2009.53","article-title":"The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts","volume":"17","author":"Porto","year":"2009","journal-title":"Mol Ther"},{"key":"10.1002\/humu.21121-BIB41","doi-asserted-by":"crossref","first-page":"145","DOI":"10.2174\/1566524024605789","article-title":"Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease)","volume":"2","author":"Raben","year":"2002","journal-title":"Curr Mol Med"},{"key":"10.1002\/humu.21121-BIB42","first-page":"45","article-title":"Role of autophagy in the pathogenesis of Pompe disease","volume":"26","author":"Raben","year":"2007","journal-title":"Acta Myol."},{"key":"10.1002\/humu.21121-BIB43","doi-asserted-by":"crossref","first-page":"3381","DOI":"10.1093\/nar\/gkg520","article-title":"SWISS-MODEL: an automated protein homology-modeling server","volume":"31","author":"Schwede","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.21121-BIB44","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1016\/j.bbrc.2008.02.125","article-title":"Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase","volume":"369","author":"Shen","year":"2008","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1002\/humu.21121-BIB45","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1097\/NEN.0b013e3181815994","article-title":"Temporal neuropathologic and behavioral phenotype of 6neo\/6neo Pompe disease mice","volume":"67","author":"Sidman","year":"2008","journal-title":"J Neuropathol Exp Neurol"},{"key":"10.1002\/humu.21121-BIB46","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1016\/j.jmb.2007.10.069","article-title":"Human intestinal maltase-glucoamylase: crystal structure of the N-terminal catalytic subunit and basis of inhibition and substrate specificity","volume":"375","author":"Sim","year":"2008","journal-title":"J Mol Biol"},{"key":"10.1002\/humu.21121-BIB47","doi-asserted-by":"crossref","first-page":"13813","DOI":"10.1073\/pnas.0605928103","article-title":"The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms","volume":"109","author":"Steet","year":"2006","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.21121-BIB48","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1038\/jhg.2009.32","article-title":"Structural modeling of mutant alpha-glucosidases resulting in a processing\/transport defect in Pompe disease","volume":"54","author":"Sugawara","year":"2009","journal-title":"J Hum Genet"},{"key":"10.1002\/humu.21121-BIB49","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1086\/522236","article-title":"Enhanced response to enzyme replacement therapy in pompe disease after the induction of immune tolerance","volume":"81","author":"Sun","year":"2007","journal-title":"Am J Hum Genet."},{"key":"10.1002\/humu.21121-BIB50","doi-asserted-by":"crossref","first-page":"2650","DOI":"10.1002\/cbic.200800304","article-title":"Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen\/deuterium exchange mass spectrometry","volume":"9","author":"Tropak","year":"2008","journal-title":"Chembiochem"},{"key":"10.1002\/humu.21121-BIB51","doi-asserted-by":"crossref","first-page":"13478","DOI":"10.1074\/jbc.M308523200","article-title":"Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients","volume":"279","author":"Tropak","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21121-BIB52","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/S0140-6736(00)02533-2","article-title":"Recombinant human alpha-glucosidase from rabbit milk in Pompe patients","volume":"356","author":"Van den Hout","year":"2000","journal-title":"Lancet"},{"key":"10.1002\/humu.21121-BIB53","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1016\/S0140-6736(08)61555-X","article-title":"Pompe's disease","volume":"372","author":"Van der Ploeg","year":"2008","journal-title":"Lancet"},{"key":"10.1002\/humu.21121-BIB54","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/0263-7855(90)80070-V","article-title":"WHAT IF: a molecular modeling and drug design program","volume":"8","author":"Vriend","year":"1990","journal-title":"J Mol Graph"},{"key":"10.1002\/humu.21121-BIB55","doi-asserted-by":"crossref","first-page":"2223","DOI":"10.1016\/S0021-9258(18)53985-5","article-title":"Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation","volume":"268","author":"Wisselaar","year":"1993","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21121-BIB56","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/j.cca.2008.02.014","article-title":"Binding parameters and thermodynamics of the interaction of imino sugars with a recombinant human acid [alpha]-glucosidase (alglucosidase alfa): insight into the complex formation mechanism","volume":"391","author":"Yoshimizu","year":"2008","journal-title":"Clin Chim Acta"},{"issue":"Pt 3","key":"10.1002\/humu.21121-BIB57","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1042\/BJ20050364","article-title":"Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice","volume":"389","author":"Zhu","year":"2005","journal-title":"Biochem J"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.21121","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.21121","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:52:14Z","timestamp":1672332734000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.21121"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,12]]},"references-count":57,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2009,12]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.21121","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,12]]}}}