{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T13:49:09Z","timestamp":1790689749922,"version":"4.1.0"},"reference-count":50,"publisher":"Public Library of Science (PLoS)","issue":"7","license":[{"start":{"date-parts":[[2012,7,18]],"date-time":"2012-07-18T00:00:00Z","timestamp":1342569600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0040776","type":"journal-article","created":{"date-parts":[[2012,7,19]],"date-time":"2012-07-19T10:39:14Z","timestamp":1342694354000},"page":"e40776","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":78,"title":["The Pharmacological Chaperone AT2220 Increases Recombinant Human Acid \u03b1-Glucosidase Uptake and Glycogen Reduction in a Mouse Model of Pompe Disease"],"prefix":"10.1371","volume":"7","author":[{"given":"Richie","family":"Khanna","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John J.","family":"Flanagan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessie","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Soska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Frascella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee J.","family":"Pellegrino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Lun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darlene","family":"Guillen","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"}]}],"member":"340","published-online":{"date-parts":[[2012,7,18]]},"reference":[{"key":"ref1","first-page":"3389","article-title":"Glycogen storage disease type ii: Acid alpha-glucosidase (acid maltase) deficiency.","author":"R Hirschhorn","year":"2001"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1016\/S0140-6736(08)61555-X","article-title":"Pompe's disease.","volume":"372","author":"AT van der Ploeg","year":"2008","journal-title":"Lancet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1542\/peds.112.2.332","article-title":"The natural course of infantile pompe's disease: 20 original cases compared with 133 cases from the literature.","volume":"112","author":"HM van den Hout","year":"2003","journal-title":"Pediatrics"},{"key":"ref4","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":"PS Kishnani","year":"2004","journal-title":"J Pediatr"},{"key":"ref5","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":"PS Kishnani","year":"2006","journal-title":"J Pediatr"},{"key":"ref6","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":"H Van den Hout","year":"2000","journal-title":"Lancet"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"e448","DOI":"10.1542\/peds.113.5.e448","article-title":"Long-term intravenous treatment of pompe disease with recombinant human alpha-glucosidase from milk.","volume":"113","author":"JM Van den Hout","year":"2004","journal-title":"Pediatrics"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1097\/GIM.0b013e31819d0996","article-title":"Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced pompe disease.","volume":"11","author":"M Nicolino","year":"2009","journal-title":"Genet Med"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.jpeds.2009.03.015","article-title":"Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset pompe disease.","volume":"155","author":"L-R Chen","year":"2009","journal-title":"J Pediatr"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/s00415-009-5275-3","article-title":"Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.","volume":"257","author":"S Strothotte","year":"2010","journal-title":"J Neurol"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1056\/NEJMoa0909859","article-title":"A randomized study of alglucosidase alfa in late-onset pompe's disease.","volume":"362","author":"AT van der Ploeg","year":"2010","journal-title":"N Engl J Med"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1038\/labinvest.3700484","article-title":"Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease.","volume":"86","author":"BL Thurberg","year":"2006","journal-title":"Lab Invest"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/j.nurt.2008.08.009","article-title":"Therapeutic approaches in glycogen storage disease type ii\/pompe disease.","volume":"5","author":"B Schoser","year":"2008","journal-title":"Neurotherapeutics"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.ymgme.2003.08.022","article-title":"Enzyme replacement therapy in the mouse model of pompe disease.","volume":"80","author":"N Raben","year":"2003","journal-title":"Mol Genet Metab"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"318","DOI":"10.4161\/auto.2984","article-title":"Autophagy and lysosomes in pompe disease.","volume":"2","author":"T Fukuda","year":"2006","journal-title":"Autophagy"},{"key":"ref16","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":"M Cardone","year":"2008","journal-title":"Pathogenetics"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.ymgme.2009.08.003","article-title":"Cross-reactive immunologic material status affects treatment outcomes in pompe disease infants.","volume":"99","author":"PS Kishnani","year":"2010","journal-title":"Mol Genet Metab"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1016\/j.ymgme.2010.08.009","article-title":"High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa.","volume":"101","author":"JM de Vries","year":"2010","journal-title":"Mol Genet Metab"},{"key":"ref19","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":"J-Q Fan","year":"2008","journal-title":"Biol Chem"},{"key":"ref20","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":"T Okumiya","year":"2007","journal-title":"Mol Genet Metab"},{"key":"ref21","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":"G Parenti","year":"2007","journal-title":"Mol Ther"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"1683","DOI":"10.1002\/humu.21121","article-title":"The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.","volume":"30","author":"JJ Flanagan","year":"2009","journal-title":"Hum Mutat"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1089\/adt.2011.0370","article-title":"Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.","volume":"9","author":"KJ Valenzano","year":"2011","journal-title":"Assay Drug Dev Technol"},{"key":"ref24","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":"C Porto","year":"2009","journal-title":"Mol Ther"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1007\/s10545-011-9424-3","article-title":"Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase a in cultured fibroblasts from patients with fabry disease.","volume":"35(3)","author":"C Porto","year":"2012","journal-title":"J Inherit Metab Dis"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1038\/mt.2011.271","article-title":"Co-administration with the pharmacological chaperone at1001 increases recombinant human alpha-galactosidase a tissue uptake and improves substrate reduction in fabry mice.","volume":"20","author":"ER Benjamin","year":"2012","journal-title":"Mol Ther"},{"key":"ref27","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":"J-S Shen","year":"2008","journal-title":"Biochem Biophys Res Commun"},{"key":"ref28","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":"FH Niesen","year":"2007","journal-title":"Nat Protocols"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"S4","DOI":"10.1016\/j.ymgme.2010.11.011","article-title":"Pharmacokinetics and muscle distribution of at2220, a pharmacological chaperone of acid-glucosidase, in healthy volunteers.","volume":"102","author":"M Adera","year":"2011","journal-title":"Mol Genet Metab"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"8861","DOI":"10.1073\/pnas.96.16.8861","article-title":"Systemic correction of the muscle disorder glycogen storage disease type ii after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase.","volume":"96","author":"A Amalfitano","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1177\/002215540505300108","article-title":"High-resolution light microscopy (hrlm) and digital analysis of pompe disease pathology.","volume":"53","author":"CM Lynch","year":"2005","journal-title":"J Histochem Cytochem"},{"key":"ref32","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":"Y Zhu","year":"2005","journal-title":"Biochem J"},{"key":"ref33","article-title":"Alglucosidase alfa. Cambridge, MA: Genzyme Corp.","author":"insert Myozyme package","year":"2006"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1002\/mus.20896","article-title":"Both type 1 and type 2a muscle fibers can respond to enzyme therapy in pompe disease.","volume":"37","author":"MR Drost","year":"2008","journal-title":"Muscle Nerve"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/0014-4827(84)90779-1","article-title":"Uptake and stability of human and bovine acid [alpha]-glucosidase in cultured fibroblasts and skeletal muscle cells from glycogenosis type ii patients.","volume":"155","author":"AJJ Reuser","year":"1984","journal-title":"Exp Cell Res"},{"key":"ref36","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":"HA Wisselaar","year":"1993","journal-title":"J Biol Chem"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1093\/hmg\/7.1.53","article-title":"Generalized glycogen storage and cardiomegaly in a knockout mouse model of pompe disease.","volume":"7","author":"AG Bijvoet","year":"1998","journal-title":"Hum Mol Genet"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1038\/mt.2009.37","article-title":"Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of pompe disease.","volume":"17","author":"Y Zhu","year":"2009","journal-title":"Mol Ther"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.ymgme.2011.02.006","article-title":"Enhanced efficacy of enzyme replacement therapy in pompe disease through mannose-6-phosphate receptor expression in skeletal muscle.","volume":"103","author":"DD Koeberl","year":"2011","journal-title":"Mol Genet Metab"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1023\/A:1022998010833","article-title":"Induction of tolerance to a recombinant human enzyme, acid alpha-glucosidase, in enzyme deficient knockout mice.","volume":"12","author":"N Raben","year":"2003","journal-title":"Transgenic Res"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1016\/j.nmd.2009.06.155","article-title":"G.P.8.05 the pharmacological chaperone at2220 increases mutant acid alpha-glucosidase levels and reduces tissue glycogen in a mouse model of pompe disease.","volume":"19","author":"R Khanna","year":"2009","journal-title":"Neuromuscul Disord"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1056\/NEJMc0806809","article-title":"Elimination of antibodies to recombinant enzyme in pompe's disease.","volume":"360","author":"NJ Mendelsohn","year":"2009","journal-title":"N Engl J Med"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1038\/mt.2009.195","article-title":"Immunomodulatory gene therapy prevents antibody formation and lethal hypersensitivity reactions in murine pompe disease.","volume":"18","author":"B Sun","year":"2009","journal-title":"Mol Ther"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1111\/j.1365-2249.2008.03602.x","article-title":"Immune tolerance induction to enzyme-replacement therapy by co-administration of short-term, low-dose methotrexate in a murine pompe disease model.","volume":"152","author":"A Joseph","year":"2008","journal-title":"Clin Exp Immunol"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/j.bbrc.2009.08.006","article-title":"Immortalization of murine muscle cells from lysosomal alpha-glucosidase deficient mice: A new tool to study pathophysiology and assess therapeutic strategies for pompe disease.","volume":"388","author":"G Douillard-Guilloux","year":"2009","journal-title":"Biochem Biophys Res Commun"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"5329","DOI":"10.1182\/blood-2009-11-252874","article-title":"Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the pompe disease phenotype.","volume":"115","author":"NP van Til","year":"2010","journal-title":"Blood"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"50257","DOI":"10.1074\/jbc.M405738200","article-title":"Antigen stability controls antigen presentation.","volume":"279","author":"R Thai","year":"2004","journal-title":"J Biol Chem"},{"key":"ref48","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":"LR DeRuisseau","year":"2009","journal-title":"Proceedings of the National Academy of Sciences"},{"key":"ref49","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":"RL Sidman","year":"2008","journal-title":"J Neuropathol Exp Neurol"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.jjcc.2010.08.003","article-title":"Promoter-specific lentivectors for long-term, cardiac-directed therapy of fabry disease.","volume":"57","author":"C-J Lee","year":"2011","journal-title":"J Cardiol"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0040776","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,22]],"date-time":"2022-01-22T04:38:31Z","timestamp":1642826311000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0040776"}},"subtitle":[],"editor":[{"given":"David R.","family":"Borchelt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2012,7,18]]},"references-count":50,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2012,7,18]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0040776","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7,18]]}}}