{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T17:31:03Z","timestamp":1792603863885,"version":"4.5.0"},"reference-count":51,"publisher":"Public Library of Science (PLoS)","issue":"7","license":[{"start":{"date-parts":[[2014,7,18]],"date-time":"2014-07-18T00:00:00Z","timestamp":1405641600000},"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.0102092","type":"journal-article","created":{"date-parts":[[2014,7,18]],"date-time":"2014-07-18T18:41:41Z","timestamp":1405708901000},"page":"e102092","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":34,"title":["The Pharmacological Chaperone AT2220 Increases the Specific Activity and Lysosomal Delivery of Mutant Acid Alpha-Glucosidase, and Promotes Glycogen Reduction in a Transgenic Mouse Model of Pompe Disease"],"prefix":"10.1371","volume":"9","author":[{"given":"Richie","family":"Khanna","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan C.","family":"Powe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Lun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Soska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessie","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rohini","family":"Dhulipala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Frascella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anadina","family":"Garcia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee J.","family":"Pellegrino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Su","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nastry","family":"Brignol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew J.","family":"Toth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hung V.","family":"Do","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Lockhart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brandon A.","family":"Wustman","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":[[2014,7,18]]},"reference":[{"key":"ref1","unstructured":"Hirschhorn R, Reuser AJJ (2001) Glycogen storage disease type II: Acid \u03b1-glucosidase (acid maltase) deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. pp. 3389\u20133420."},{"key":"ref2","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1016\/S0140-6736(08)61555-X","article-title":"Pompe&apos;s disease","volume":"372","author":"AT van der Ploeg","year":"2008","journal-title":"Lancet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1016\/S1525-0016(02)90716-1","article-title":"Glycogen stored in skeletal but not in cardiac muscle in acid \u03b1-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme","volume":"6","author":"N Raben","year":"2002","journal-title":"Mol Ther"},{"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":"2139","DOI":"10.1212\/01.WNL.0000165979.46537.56","article-title":"Disease severity in children and adults with Pompe disease related to age and disease duration","volume":"64","author":"ML Hagemans","year":"2005","journal-title":"Neurology"},{"key":"ref6","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 \u03b1-glucosidase from milk","volume":"113","author":"JM Van den Hout","year":"2004","journal-title":"Pediatrics"},{"key":"ref7","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":"ref8","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":"ref9","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1016\/j.jpeds.2005.11.033","article-title":"A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease","volume":"148","author":"PS Kishnani","year":"2006","journal-title":"J Pediatr"},{"key":"ref10","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 \u03b1-glucosidase in infantile-onset Pompe disease","volume":"149","author":"PS Kishnani","year":"2006","journal-title":"J Pediatr"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1097\/01.gim.0000218152.87434.f3","article-title":"Pompe disease diagnosis and management guideline","volume":"8","author":"PS Kishnani","year":"2006","journal-title":"Genet Med"},{"key":"ref12","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":"ref13","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1056\/NEJMoa0909859","article-title":"A randomized study of alglucosidase alfa in late-onset Pompe&apos;s disease","volume":"362","author":"AT van der Ploeg","year":"2010","journal-title":"N Engl J Med"},{"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":"6","DOI":"10.1186\/1755-8417-1-6","article-title":"Abnormal mannose-6-phosphate receptor trafficking impairs recombinant \u03b1-glucosidase uptake in Pompe disease fibroblasts","volume":"1","author":"M Cardone","year":"2008","journal-title":"Pathogenetics"},{"key":"ref16","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":"ref17","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":"ref18","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":"ref19","doi-asserted-by":"crossref","first-page":"6780","DOI":"10.1074\/jbc.M404008200","article-title":"Lysosomal acid \u03b1-glucosidase consists of four different peptides processed from a single chain precursor","volume":"280","author":"RJ Moreland","year":"2005","journal-title":"J Biol Chem"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"2223","DOI":"10.1016\/S0021-9258(18)53985-5","article-title":"Structural and functional changes of lysosomal acid \u03b1-glucosidase during intracellular transport and maturation","volume":"268","author":"HA Wisselaar","year":"1993","journal-title":"J Biol Chem"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"4946","DOI":"10.1016\/S0021-9258(19)85586-2","article-title":"Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues","volume":"255","author":"A Hasilik","year":"1980","journal-title":"J Biol Chem"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"1815","DOI":"10.1093\/hmg\/7.11.1815","article-title":"Recombinant human acid \u03b1-glucosidase: High level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice","volume":"7","author":"AG Bijvoet","year":"1998","journal-title":"Hum Mol Genet"},{"key":"ref23","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":"ref24","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 \u03b1-glucosidases in glycogen storage disease type II","volume":"90","author":"T Okumiya","year":"2007","journal-title":"Mol Genet Metab"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1038\/sj.mt.6300074","article-title":"Pharmacological enhancement of mutated \u03b1-glucosidase activity in fibroblasts from patients with Pompe disease","volume":"15","author":"G Parenti","year":"2007","journal-title":"Mol Ther"},{"key":"ref26","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 \u03b1-glucosidase","volume":"30","author":"JJ Flanagan","year":"2009","journal-title":"Hum Mutat"},{"key":"ref27","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":"AR Sawkar","year":"2002","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"13478","DOI":"10.1074\/jbc.M308523200","article-title":"Pharmacological enhancement of \u03b2-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff patients","volume":"279","author":"MB Tropak","year":"2004","journal-title":"J Biol Chem"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/S0165-6147(03)00158-5","article-title":"A contradictory treatment for lysosomal storage disorders: Inhibitors enhance mutant enzyme activity","volume":"24","author":"J-Q Fan","year":"2003","journal-title":"Trends Pharmacol Sci"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/S0014-5793(97)01263-5","article-title":"Generation and characterization of transgenic mice expressing a human mutant \u03b1-galactosidase with an R301Q substitution causing a variant form of Fabry disease","volume":"417","author":"M Shimmoto","year":"1997","journal-title":"FEBS Lett"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.bbadis.2004.07.001","article-title":"Transgenic mouse expressing human mutant \u03b1-galactosidase A in an endogenous enzyme deficient background: A biochemical animal model for studying active-site specific chaperone therapy for Fabry disease","volume":"1690","author":"S Ishii","year":"2004","journal-title":"Biochim Biophys Acta"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1038\/mt.2009.220","article-title":"The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease","volume":"18","author":"R Khanna","year":"2010","journal-title":"Mol Ther"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"7380","DOI":"10.1073\/pnas.77.12.7380","article-title":"Genetic transformation of mouse embryos by microinjection of purified DNA","volume":"77","author":"JW Gordon","year":"1980","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"19086","DOI":"10.1074\/jbc.273.30.19086","article-title":"Targeted disruption of the acid \u03b1-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II","volume":"273","author":"N Raben","year":"1998","journal-title":"J Biol Chem"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"e40776","DOI":"10.1371\/journal.pone.0040776","article-title":"The pharmacological chaperone AT2220 increases recombinant human acid \u03b1-glucosidase uptake and glycogen reduction in a mouse model of Pompe disease","volume":"7","author":"R Khanna","year":"2012","journal-title":"PLoS ONE"},{"key":"ref36","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":"ref37","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.ymgme.2008.12.012","article-title":"Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches","volume":"96","author":"S Takikita","year":"2009","journal-title":"Mol Genet Metab"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"13813","DOI":"10.1073\/pnas.0605928103","article-title":"The iminosugar isofagomine increases the activity of N370S mutant acid \u03b2-glucosidase in Gaucher fibroblasts by several mechanisms","volume":"109","author":"RA Steet","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref39","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 \u03b1-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":"ref40","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1042\/BJ20050364","article-title":"Carbohydrate-remodelled acid \u03b1-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":"ref41","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.ymgme.2007.04.018","article-title":"Differential muscular glycogen clearance after enzyme replacement therapy in a mouse model of Pompe disease","volume":"91","author":"ML Hawes","year":"2007","journal-title":"Mol Genet Metab"},{"key":"ref42","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":"Proc Natl Acad Sci U S A"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1097\/NEN.0b013e3181815994","article-title":"Temporal neuropathologic and behavioral phenotype of 6<italic><sup>neo<\/sup><\/italic>\/6<italic><sup>neo<\/sup><\/italic> Pompe disease mice","volume":"67","author":"RL Sidman","year":"2008","journal-title":"J Neuropathol Exp Neurol"},{"key":"ref44","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"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1172\/JCI1722","article-title":"Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase-deficient quail","volume":"101","author":"T Kikuchi","year":"1998","journal-title":"J Clin Invest"},{"key":"ref46","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 (\u221213t\u2013&gt;g) mutation in a majority of patients and a novel IVS10 (+1gt\u2013&gt;ct) mutation","volume":"3","author":"ML Huie","year":"1994","journal-title":"Hum Mol Genet"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"2213","DOI":"10.1093\/hmg\/3.12.2213","article-title":"The effect of a single base pair deletion (delta t525) and a c1634t missense mutation (pro545leu) on the expression of lysosomal \u03b1-glucosidase in patients with glycogen storage disease type II","volume":"3","author":"MM Hermans","year":"1994","journal-title":"Hum Mol Genet"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"145","DOI":"10.2174\/1566524024605789","article-title":"Acid \u03b1-glucosidase deficiency (glycogenosis type II, Pompe disease)","volume":"2","author":"N Raben","year":"2002","journal-title":"Curr Mol Med"},{"key":"ref49","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":"AL Montalvo","year":"2006","journal-title":"Hum Mutat"},{"key":"ref50","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":"M Pittis","year":"2008","journal-title":"Hum Mutat"},{"key":"ref51","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"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0102092","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,11]],"date-time":"2022-04-11T16:54:30Z","timestamp":1649696070000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0102092"}},"subtitle":[],"editor":[{"given":"Philipp J.","family":"Kahle","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2014,7,18]]},"references-count":51,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2014,7,18]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0102092","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,7,18]]}}}