{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T15:05:29Z","timestamp":1784905529247,"version":"3.55.0"},"reference-count":72,"publisher":"Oxford University Press (OUP)","issue":"23","license":[{"start":{"date-parts":[[2019,9,13]],"date-time":"2019-09-13T00:00:00Z","timestamp":1568332800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100001869","name":"Academia Sinica","doi-asserted-by":"publisher","award":["AS-106-TP-B13"],"award-info":[{"award-number":["AS-106-TP-B13"]}],"id":[{"id":"10.13039\/501100001869","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001869","name":"Academia Sinica","doi-asserted-by":"publisher","award":["AS-SUMMIT-108"],"award-info":[{"award-number":["AS-SUMMIT-108"]}],"id":[{"id":"10.13039\/501100001869","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology, Taiwan","doi-asserted-by":"publisher","award":["MOST 106\u20130210-01-15-02"],"award-info":[{"award-number":["MOST 106\u20130210-01-15-02"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology, Taiwan","doi-asserted-by":"publisher","award":["MOST 108-3114-Y-001-002"],"award-info":[{"award-number":["MOST 108-3114-Y-001-002"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology, Taiwan","doi-asserted-by":"publisher","award":["MOST 107\u20130210-01-19-01"],"award-info":[{"award-number":["MOST 107\u20130210-01-19-01"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology, Taiwan","doi-asserted-by":"publisher","award":["MOST 104-2314-B-002-020"],"award-info":[{"award-number":["MOST 104-2314-B-002-020"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001868","name":"National Science Council","doi-asserted-by":"publisher","award":["102-2325-B-002-020"],"award-info":[{"award-number":["102-2325-B-002-020"]}],"id":[{"id":"10.13039\/501100001868","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pompe disease (OMIM # 232300) is a glycogen storage disease caused by autosomal recessive mutations of the gene encoding alpha-1,4-glucosidase (GAA; EC 3.2.1.20). Despite the relatively effective employment of enzyme replacement therapy, some critical medical issues still exist in patients with this disease, including the persistence of abnormalities in the central nervous system (CNS), probably because of the inability of the recombinant GAA to pass through the blood\u2013brain barrier. To address this issue, identification of more therapeutic agents that target the CNS of patients with Pompe disease may be required. In this study, we derived neuronal cells from Pompe disease-induced pluripotent stem cells (Pom-iPSCs) and proved that they are able to recapitulate the hallmark cellular and biochemical phenotypes of Pompe disease. Using the Pom-iPSC-derived neurons as an in vitro drug-testing model, we then identified three compounds, ebselen, wortmannin and PX-866, with therapeutic potential to alleviate Pompe disease-associated pathological phenotypes in the neurons derived from Pom-iPSCs. We confirmed that all three compounds were able to enhance the GAA activity in the Pom-iPSC-derived neurons. Moreover, they were able to enhance the GAA activity in several important internal organs of GAA-deficient mice when co-injected with recombinant human GAA, and we found that intraperitoneal injection of ebselen was able to promote the GAA activity of the GAA-heterozygous mouse brain. Our results prove the usefulness of Pom-iPSC-derived neuronal populations for identifying new compounds with therapeutic potential.<\/jats:p>","DOI":"10.1093\/hmg\/ddz218","type":"journal-article","created":{"date-parts":[[2019,9,10]],"date-time":"2019-09-10T11:36:15Z","timestamp":1568115375000},"page":"3880-3894","source":"Crossref","is-referenced-by-count":13,"title":["Using human Pompe disease-induced pluripotent stem cell-derived neural cells to identify compounds with therapeutic potential"],"prefix":"10.1093","volume":"28","author":[{"given":"Hsiang-Po","family":"Huang","sequence":"first","affiliation":[{"name":"Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei, 10051, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Chiang","sequence":"additional","affiliation":[{"name":"Institute of Cellular and Organismic Biology, Academia Sinica, Taipei 11529, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee","family":"Stone","sequence":"additional","affiliation":[{"name":"Institute of Cellular and Organismic Biology, Academia Sinica, Taipei 11529, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-Kai","family":"Kang","sequence":"additional","affiliation":[{"name":"Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei, 10051, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ching-Yu","family":"Chuang","sequence":"additional","affiliation":[{"name":"Genomics Research Center, Academia Sinica, Taipei 11529, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hung-Chih","family":"Kuo","sequence":"additional","affiliation":[{"name":"Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei, 10051, Taiwan"},{"name":"Institute of Cellular and Organismic Biology, Academia Sinica, Taipei 11529, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,9,13]]},"reference":[{"key":"2020011802162909000_ref1","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1007\/s00246-008-9267-3","article-title":"Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease","volume":"29","author":"Levine","year":"2008","journal-title":"Pediatr. Cardiol."},{"key":"2020011802162909000_ref2","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":"2020011802162909000_ref3","doi-asserted-by":"crossref","first-page":"e981","DOI":"10.1016\/j.jpeds.2014.10.068","article-title":"Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth","volume":"166","author":"Chien","year":"2015","journal-title":"J. Pediatr."},{"key":"2020011802162909000_ref4","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1186\/1750-1172-8-90","article-title":"Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy","volume":"8","author":"Prater","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"2020011802162909000_ref5","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":"Strothotte","year":"2010","journal-title":"J. Neurol."},{"key":"2020011802162909000_ref6","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":"Ploeg","year":"2010","journal-title":"N. Engl. J. Med."},{"key":"2020011802162909000_ref7","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1007\/s11910-011-0236-5","article-title":"Enzyme replacement therapy for Pompe disease","volume":"12","author":"Angelini","year":"2012","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"2020011802162909000_ref8","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":"Zhu","year":"2009","journal-title":"Mol. Ther."},{"key":"2020011802162909000_ref9","doi-asserted-by":"crossref","first-page":"3876","DOI":"10.1093\/hmg\/ddn290","article-title":"Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II","volume":"17","author":"Douillard-Guilloux","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"2020011802162909000_ref10","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":"Flanagan","year":"2009","journal-title":"Hum. Mutat."},{"key":"2020011802162909000_ref11","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1203\/01.pdr.0000233014.84318.4e","article-title":"Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy","volume":"60","author":"Chien","year":"2006","journal-title":"Pediatr. Res."},{"key":"2020011802162909000_ref12","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1007\/s00455-009-9252-x","article-title":"Oropharyngeal dysphagia in infants and children with infantile Pompe disease","volume":"25","author":"Jones","year":"2010","journal-title":"Dysphagia"},{"key":"2020011802162909000_ref13","doi-asserted-by":"crossref","first-page":"5760","DOI":"10.1073\/pnas.102175599","article-title":"Brain-directed gene therapy for lysosomal storage disease: going well beyond the blood- brain barrier","volume":"99","author":"Sly","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U S A"},{"key":"2020011802162909000_ref14","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1007\/s12035-014-8867-6","article-title":"Induced pluripotent stem cells for disease modeling and drug discovery in neurodegenerative diseases","volume":"52","author":"Cao","year":"2015","journal-title":"Mol. Neurobiol."},{"key":"2020011802162909000_ref15","doi-asserted-by":"crossref","first-page":"4851","DOI":"10.1093\/hmg\/ddr424","article-title":"Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification","volume":"20","author":"Huang","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"2020011802162909000_ref16","doi-asserted-by":"crossref","first-page":"33510","DOI":"10.1074\/jbc.M110.122093","article-title":"Factors from human embryonic stem cell-derived fibroblast-like cells promote topology-dependent hepatic differentiation in primate embryonic and induced pluripotent stem cells","volume":"285","author":"Huang","year":"2010","journal-title":"J. Biol. Chem."},{"key":"2020011802162909000_ref17","doi-asserted-by":"crossref","first-page":"1166","DOI":"10.1038\/s41598-018-37774-2","article-title":"Modeling spinocerebellar ataxias 2 and 3 with iPSCs reveals a role for glutamate in disease pathology","volume":"9","author":"Chuang","year":"2019","journal-title":"Sci. Rep."},{"key":"2020011802162909000_ref18","doi-asserted-by":"crossref","first-page":"2201","DOI":"10.1038\/mt.2012.152","article-title":"Pharmacological enhancement of alpha-glucosidase by the allosteric chaperone N-acetylcysteine","volume":"20","author":"Porto","year":"2012","journal-title":"Mol. Ther."},{"key":"2020011802162909000_ref19","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/j.ymgme.2010.05.001","article-title":"Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease","volume":"100","author":"Ashe","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"2020011802162909000_ref20","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1083\/jcb.200504035","article-title":"Lithium induces autophagy by inhibiting inositol monophosphatase","volume":"170","author":"Sarkar","year":"2005","journal-title":"J. Cell. Biol."},{"key":"2020011802162909000_ref21","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/0893-133X(94)00088-H","article-title":"Myo-inositol monophosphatase: diverse effects of lithium, carbamazepine, and valproate","volume":"12","author":"Vadnal","year":"1995","journal-title":"Neuropsychopharmacology"},{"key":"2020011802162909000_ref22","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1042\/bj3030021","article-title":"The inhibition of glycogen synthase kinase-3 by insulin or insulin-like growth factor 1 in the rat skeletal muscle cell line L6 is blocked by wortmannin, but not by rapamycin: evidence that wortmannin blocks activation of the mitogen-activated protein kinase pathway in L6 cells between Ras and Raf","volume":"303","author":"Cross","year":"1994","journal-title":"Biochem. J."},{"key":"2020011802162909000_ref23","doi-asserted-by":"crossref","first-page":"766","DOI":"10.2337\/db10-1148","article-title":"Molecular mechanism by which AMP-activated protein kinase activation promotes glycogen accumulation in muscle","volume":"60","author":"Hunter","year":"2011","journal-title":"Diabetes"},{"key":"2020011802162909000_ref24","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1158\/1535-7163.763.3.7","article-title":"Molecular pharmacology and antitumor activity of PX-866, a novel inhibitor of phosphoinositide-3-kinase signaling","volume":"3","author":"Ihle","year":"2004","journal-title":"Mol. Cancer Ther."},{"key":"2020011802162909000_ref25","doi-asserted-by":"crossref","first-page":"1566","DOI":"10.2174\/138161208784705504","article-title":"Lysosomal storage diseases and the blood-brain barrier","volume":"14","author":"Begley","year":"2008","journal-title":"Curr. Pharm. Des."},{"key":"2020011802162909000_ref26","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1172\/JCI115025","article-title":"Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice","volume":"87","author":"Van der Ploeg","year":"1991","journal-title":"J. Clin. Invest."},{"key":"2020011802162909000_ref27","doi-asserted-by":"crossref","first-page":"1768","DOI":"10.1038\/npp.2015.343","article-title":"Effect of the putative lithium mimetic ebselen on brain myo-inositol, sleep, and emotional processing in humans","volume":"41","author":"Singh","year":"2016","journal-title":"Neuropsychopharmacology"},{"key":"2020011802162909000_ref28","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1096\/fj.00-0528fje","article-title":"Reduction of Abeta accumulation in the Tg2576 animal model of Alzheimer's disease after oral administration of the phosphatidyl-inositol kinase inhibitor wortmannin","volume":"15","author":"Haugabook","year":"2001","journal-title":"FASEB J."},{"key":"2020011802162909000_ref29","first-page":"1270","article-title":"Phase II study of PX-866 in recurrent glioblastoma","volume":"17","author":"Pitz","year":"2015","journal-title":"Neuro. Oncol."},{"key":"2020011802162909000_ref30","doi-asserted-by":"crossref","first-page":"19086","DOI":"10.1074\/jbc.273.30.19086","article-title":"Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II","volume":"273","author":"Raben","year":"1998","journal-title":"J. Biol. Chem."},{"key":"2020011802162909000_ref31","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/s13023-018-0771-0","article-title":"Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy","volume":"13","author":"Parini","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"key":"2020011802162909000_ref32","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1212\/WNL.0b013e3182553c11","article-title":"Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy","volume":"78","author":"Ebbink","year":"2012","journal-title":"Neurology"},{"key":"2020011802162909000_ref33","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/ajmg.c.31323","article-title":"Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: long-term follow-up","volume":"160C","author":"Spiridigliozzi","year":"2012","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"2020011802162909000_ref34","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1007\/s10545-010-9209-0","article-title":"CRIM-negative infantile Pompe disease: 42-month treatment outcome","volume":"33","author":"Rohrbach","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"2020011802162909000_ref35","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1007\/s10545-011-9404-7","article-title":"Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy","volume":"35","author":"Gelder","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"key":"2020011802162909000_ref36","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.ymgme.2017.10.005","article-title":"Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy","volume":"123","author":"McIntosh","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"2020011802162909000_ref37","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1002\/mus.24444","article-title":"Altered activation of the tibialis anterior in individuals with Pompe disease: implications for motor unit dysfunction","volume":"51","author":"Corti","year":"2015","journal-title":"Muscle Nerve"},{"key":"2020011802162909000_ref38","doi-asserted-by":"crossref","first-page":"1428","DOI":"10.1074\/jbc.M112.438663","article-title":"Glycosylation-independent lysosomal targeting of acid alpha-glucosidase enhances muscle glycogen clearance in Pompe mice","volume":"288","author":"Maga","year":"2013","journal-title":"J. Biol. Chem."},{"key":"2020011802162909000_ref39","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1186\/s40478-017-0464-2","article-title":"Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe disease","volume":"5","author":"Hordeaux","year":"2017","journal-title":"Acta. Neuropathol. Commun."},{"key":"2020011802162909000_ref40","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1089\/humc.2017.146","article-title":"Safety of intradiaphragmatic delivery of adeno-associated virus-mediated alpha-glucosidase (rAAV1-CMV-hGAA) gene therapy in children affected by Pompe disease","volume":"28","author":"Corti","year":"2017","journal-title":"Hum. Gene. Ther. Clin. Dev."},{"key":"2020011802162909000_ref41","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":"2020011802162909000_ref42","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":"2020011802162909000_ref43","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1016\/j.ymthe.2017.02.017","article-title":"Duvoglustat HCl increases systemic and tissue exposure of active acid alpha-glucosidase in Pompe patients co-administered with alglucosidase alpha","volume":"25","author":"Kishnani","year":"2017","journal-title":"Mol. Ther."},{"key":"2020011802162909000_ref44","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1038\/mt.2014.224","article-title":"Enzyme enhancers for the treatment of Fabry and Pompe disease","volume":"23","author":"Lukas","year":"2015","journal-title":"Mol. Ther."},{"key":"2020011802162909000_ref45","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/j.tins.2011.05.006","article-title":"Clarifying lysosomal storage diseases","volume":"34","author":"Schultz","year":"2011","journal-title":"Trends Neurosci."},{"key":"2020011802162909000_ref46","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/S0014-5793(97)00240-8","article-title":"Insulin activates protein kinase B, inhibits glycogen synthase kinase-3 and activates glycogen synthase by rapamycin-insensitive pathways in skeletal muscle and adipose tissue","volume":"406","author":"Cross","year":"1997","journal-title":"FEBS Lett."},{"key":"2020011802162909000_ref47","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0054206","article-title":"Reactive oxygen species via redox signaling to PI3K\/AKT pathway contribute to the malignant growth of 4-hydroxy estradiol-transformed mammary epithelial cells","volume":"8","author":"Okoh","year":"2013","journal-title":"PLoS One"},{"key":"2020011802162909000_ref48","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.ejphar.2004.05.024","article-title":"Single-dose ebselen does not afford sustained neuroprotection to rats subjected to severe focal cerebral ischemia","volume":"495","author":"Salom","year":"2004","journal-title":"Eur. J. Pharmacol."},{"key":"2020011802162909000_ref49","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1111\/j.1432-1033.1997.0240a.x","article-title":"The phosphatidylinositol 3-kinase inhibitors wortmannin and LY294002 inhibit autophagy in isolated rat hepatocytes","volume":"243","author":"Blommaart","year":"1997","journal-title":"Eur. J. Biochem."},{"key":"2020011802162909000_ref50","doi-asserted-by":"crossref","first-page":"318","DOI":"10.4161\/auto.2984","article-title":"Autophagy and lysosomes in Pompe disease","volume":"2","author":"Fukuda","year":"2006","journal-title":"Autophagy"},{"key":"2020011802162909000_ref51","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.ymgme.2011.06.012","article-title":"Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease","volume":"104","author":"Beek","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"2020011802162909000_ref52","doi-asserted-by":"crossref","first-page":"3121","DOI":"10.1074\/jbc.M114.628628","article-title":"Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes","volume":"290","author":"Raval","year":"2015","journal-title":"J. Biol. Chem."},{"key":"2020011802162909000_ref53","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.yexcr.2019.04.021","article-title":"Modelling the neuropathology of lysosomal storage disorders through disease-specific human induced pluripotent stem cells","volume":"380","author":"Kobolak","year":"2019","journal-title":"Exp. Cell. Res."},{"key":"2020011802162909000_ref54","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1186\/s13023-016-0446-7","article-title":"Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study","volume":"11","author":"Peng","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"key":"2020011802162909000_ref55","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/j.stem.2016.06.019","article-title":"Epigenetic variation between human induced pluripotent stem cell lines is an indicator of differentiation capacity","volume":"19","author":"Nishizawa","year":"2016","journal-title":"Cell Stem Cell"},{"key":"2020011802162909000_ref56","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.stem.2013.07.001","article-title":"Genetic and epigenetic variations in iPSCs: potential causes and implications for application","volume":"13","author":"Liang","year":"2013","journal-title":"Cell Stem Cell"},{"key":"2020011802162909000_ref57","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1159\/000493018","article-title":"Advances and current challenges associated with the use of human induced pluripotent stem cells in Modeling neurodegenerative disease","volume":"205","author":"Berry","year":"2018","journal-title":"Cells Tissues Organs"},{"key":"2020011802162909000_ref58","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/j.stem.2012.02.014","article-title":"Erosion of dosage compensation impacts human iPSC disease modeling","volume":"10","author":"Mekhoubad","year":"2012","journal-title":"Cell Stem Cell"},{"key":"2020011802162909000_ref59","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.stem.2010.12.003","article-title":"Dynamic changes in the copy number of pluripotency and cell proliferation genes in human ESCs and iPSCs during reprogramming and time in culture","volume":"8","author":"Laurent","year":"2011","journal-title":"Cell Stem Cell"},{"key":"2020011802162909000_ref60","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1016\/j.celrep.2019.01.094","article-title":"Identifying extrinsic versus intrinsic drivers of variation in cell behavior in human iPSC lines from healthy donors","volume":"26","author":"Vigilante","year":"2019","journal-title":"Cell Rep."},{"key":"2020011802162909000_ref61","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.-32-13T-&gt;G haplotype","volume":"68","author":"Kroos","year":"2007","journal-title":"Neurology"},{"key":"2020011802162909000_ref62","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1097\/GIM.0b013e3181d2900e","article-title":"The angiotensin-converting enzyme insertion\/deletion polymorphism modifies the clinical outcome in patients with Pompe disease","volume":"12","author":"Filippi","year":"2010","journal-title":"Genet. Med."},{"key":"2020011802162909000_ref63","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.ymgme.2012.05.016","article-title":"Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset type II glycogenosis?","volume":"107","author":"Ravaglia","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"2020011802162909000_ref64","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1002\/(SICI)1098-1004(1998)11:4<306::AID-HUMU8>3.0.CO;2-S","article-title":"Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect","volume":"11","author":"Shieh","year":"1998","journal-title":"Hum. Mutat."},{"key":"2020011802162909000_ref65","doi-asserted-by":"crossref","first-page":"1784","DOI":"10.1016\/j.stemcr.2017.05.012","article-title":"Taming human genetic variability: Transcriptomic meta-analysis guides the experimental design and interpretation of iPSC-based disease modeling","volume":"8","author":"Germain","year":"2017","journal-title":"Stem Cell Reports"},{"key":"2020011802162909000_ref66","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/j.stem.2013.01.009","article-title":"Modeling Alzheimer's disease with iPSCs reveals stress phenotypes associated with intracellular Abeta and differential drug responsiveness","volume":"12","author":"Kondo","year":"2013","journal-title":"Cell Stem Cell"},{"key":"2020011802162909000_ref67","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0067296","article-title":"Cholesterol-secreting and statin-responsive hepatocytes from human ES and iPS cells to model hepatic involvement in cardiovascular health","volume":"8","author":"Krueger","year":"2013","journal-title":"PLoS One"},{"key":"2020011802162909000_ref68","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1161\/JAHA.117.005677","article-title":"Modeling treatment response for Lamin a\/C related dilated cardiomyopathy in human induced pluripotent stem cells","volume":"6","author":"Lee","year":"2017","journal-title":"J. Am. Heart. Assoc."},{"key":"2020011802162909000_ref69","doi-asserted-by":"crossref","first-page":"e39","DOI":"10.1542\/peds.2007-2222","article-title":"Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program","volume":"122","author":"Chien","year":"2008","journal-title":"Pediatrics"},{"key":"2020011802162909000_ref70","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1093\/toxsci\/kfg058","article-title":"Methylmercury increases glutamate release from brain synaptosomes and glutamate uptake by cortical slices from suckling rat pups: modulatory effect of ebselen","volume":"73","author":"Farina","year":"2003","journal-title":"Toxicol. Sci."},{"key":"2020011802162909000_ref71","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1093\/neuonc\/nop058","article-title":"Cellular and in vivo activity of a novel PI3K inhibitor, PX-866, against human glioblastoma","volume":"12","author":"Koul","year":"2010","journal-title":"Neuro. Oncol."},{"key":"2020011802162909000_ref72","doi-asserted-by":"crossref","DOI":"10.1371\/journal.ppat.1006854","article-title":"Ebselen alleviates testicular pathology in mice with Zika virus infection and prevents its sexual transmission","volume":"14","author":"Simanjuntak","year":"2018","journal-title":"PLoS Pathog."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddz218\/31610574\/ddz218.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/28\/23\/3880\/31874850\/ddz218.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/28\/23\/3880\/31874850\/ddz218.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,28]],"date-time":"2022-09-28T01:40:16Z","timestamp":1664329216000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/28\/23\/3880\/5568318"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9,13]]},"references-count":72,"journal-issue":{"issue":"23","published-online":{"date-parts":[[2019,9,13]]},"published-print":{"date-parts":[[2019,12,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddz218","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,12,1]]},"published":{"date-parts":[[2019,9,13]]}}}