{"id":"https://openalex.org/W2603628512","doi":"https://doi.org/10.1016/j.omtn.2017.03.002","title":"GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells","display_name":"GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells","publication_year":2017,"publication_date":"2017-03-14","ids":{"openalex":"https://openalex.org/W2603628512","doi":"https://doi.org/10.1016/j.omtn.2017.03.002","mag":"2603628512","pmid":"https://pubmed.ncbi.nlm.nih.gov/28624186","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/5415960"},"language":"en","primary_location":{"id":"doi:10.1016/j.omtn.2017.03.002","doi":"https://doi.org/10.1016/j.omtn.2017.03.002","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.omtn.2017.03.002","pdf_url":"http://www.cell.com/article/S2162253117301403/pdf","source":{"id":"https://openalex.org/S2764969478","display_name":"Molecular Therapy \u2014 Nucleic Acids","issn_l":"2162-2531","issn":["2162-2531"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jufo-1","ki-jl-1","norway-1","poland-140","vabb-shw"],"host_organization":"https://openalex.org/P4310315673","host_organization_name":"Cell Press","host_organization_lineage":["https://openalex.org/P4310315673","https://openalex.org/P4310320990"],"host_organization_lineage_names":["Cell Press","Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Therapy - Nucleic Acids","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"http://www.cell.com/article/S2162253117301403/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5056410185","display_name":"Erik van der Wal","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Erik van der Wal","raw_affiliation_strings":["Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands","Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands","Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands","Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007339981","display_name":"Atze J. Bergsma","orcid":"https://orcid.org/0000-0002-8733-5078","observed_orcids":["https://orcid.org/0000-0002-8733-5078"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Atze J. Bergsma","raw_affiliation_strings":["Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands","Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands","Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands","Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5129613956","display_name":"Tom J.M. van Gestel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Tom J.M. van Gestel","raw_affiliation_strings":["Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands","Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands","Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands","Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112874619","display_name":"Stijn L.M. in \u2018t Groen","orcid":"https://orcid.org/0009-0004-1786-3037","observed_orcids":["https://orcid.org/0009-0004-1786-3037"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Stijn L.M. in \u2018t Groen","raw_affiliation_strings":["Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands","Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands","Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075234873","display_name":"Holm Zaehres","orcid":"https://orcid.org/0000-0001-8062-8428","observed_orcids":["https://orcid.org/0000-0001-8062-8428"]},"institutions":[{"id":"https://openalex.org/I4210152666","display_name":"Max Planck Institute for Molecular Biomedicine","ror":"https://ror.org/040djv263","country_code":"DE","type":"facility","lineage":["https://openalex.org/I149899117","https://openalex.org/I4210152666"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Holm Zaehres","raw_affiliation_strings":["Department of Cell and Developmental Biology, Max Planck Institute for Molecular Biomedicine, 48149 M\u00fcnster, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cell and Developmental Biology, Max Planck Institute for Molecular Biomedicine, 48149 M\u00fcnster, Germany","institution_ids":["https://openalex.org/I4210152666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048193070","display_name":"Marcos Jesus Ara\u00fazo-Bravo","orcid":"https://orcid.org/0000-0002-3264-464X","observed_orcids":["https://orcid.org/0000-0002-3264-464X"]},"institutions":[{"id":"https://openalex.org/I4210152666","display_name":"Max Planck Institute for Molecular Biomedicine","ror":"https://ror.org/040djv263","country_code":"DE","type":"facility","lineage":["https://openalex.org/I149899117","https://openalex.org/I4210152666"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Marcos J. Ara\u00fazo-Bravo","raw_affiliation_strings":["Department of Cell and Developmental Biology, Max Planck Institute for Molecular Biomedicine, 48149 M\u00fcnster, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cell and Developmental Biology, Max Planck Institute for Molecular Biomedicine, 48149 M\u00fcnster, Germany","institution_ids":["https://openalex.org/I4210152666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078962332","display_name":"Hans Robert Sch\u00f6ler","orcid":"https://orcid.org/0000-0003-2643-5136","observed_orcids":["https://orcid.org/0000-0003-2643-5136","https://orcid.org/0000-0002-7422-8847"]},"institutions":[{"id":"https://openalex.org/I22465464","display_name":"University of M\u00fcnster","ror":"https://ror.org/00pd74e08","country_code":"DE","type":"education","lineage":["https://openalex.org/I22465464"]},{"id":"https://openalex.org/I4210152666","display_name":"Max Planck Institute for Molecular Biomedicine","ror":"https://ror.org/040djv263","country_code":"DE","type":"facility","lineage":["https://openalex.org/I149899117","https://openalex.org/I4210152666"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Hans R. Sch\u00f6ler","raw_affiliation_strings":["Department of Cell and Developmental Biology, Max Planck Institute for Molecular Biomedicine, 48149 M\u00fcnster, Germany; Westphalian Wilhelms-University, Medical Faculty, 48149 M\u00fcnster, Germany","Department of Cell and Developmental Biology, Max Planck Institute for Molecular Biomedicine, 48149 M\u00fcnster, Germany","Westphalian Wilhelms-University, Medical Faculty, 48149 M\u00fcnster, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cell and Developmental Biology, Max Planck Institute for Molecular Biomedicine, 48149 M\u00fcnster, Germany; Westphalian Wilhelms-University, Medical Faculty, 48149 M\u00fcnster, Germany","institution_ids":["https://openalex.org/I22465464","https://openalex.org/I4210152666"]},{"raw_affiliation_string":"Department of Cell and Developmental Biology, Max Planck Institute for Molecular Biomedicine, 48149 M\u00fcnster, Germany","institution_ids":["https://openalex.org/I4210152666"]},{"raw_affiliation_string":"Westphalian Wilhelms-University, Medical Faculty, 48149 M\u00fcnster, Germany","institution_ids":["https://openalex.org/I22465464"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030669499","display_name":"Ans T. van der Ploeg","orcid":"https://orcid.org/0000-0002-3359-1324","observed_orcids":["https://orcid.org/0000-0002-3359-1324"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Ans T. van der Ploeg","raw_affiliation_strings":["Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands","Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands","Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5065376365","display_name":"W.W.M. Pim Pijnappel","orcid":"https://orcid.org/0000-0002-7042-2482","observed_orcids":["https://orcid.org/0000-0002-7042-2482"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"W.W.M. Pim Pijnappel","raw_affiliation_strings":["Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands. Electronic address: w.pijnappel@erasmusmc.nl","Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands","Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands","Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands. Electronic address: w.pijnappel@erasmusmc.nl","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, 3015 GE Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Department of Pediatrics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus Medical Center, 3015 CN Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5065376365"],"corresponding_institution_ids":["https://openalex.org/I2801952686"],"apc_list":{"value":3900,"currency":"USD","value_usd":3900},"apc_paid":{"value":3900,"currency":"USD","value_usd":3900},"fwci":5.87,"has_fulltext":true,"cited_by_count":65,"citation_normalized_percentile":{"value":0.9675939,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":94,"max":99},"biblio":{"volume":"7","issue":null,"first_page":"101","last_page":"115"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9692000150680542,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9692000150680542,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.019600000232458115,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":0.003000000026077032,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/pompe-disease","display_name":"Pompe disease","score":1.0},{"id":"https://openalex.org/keywords/acid-alpha-glucosidase-deficiency","display_name":"acid alpha-glucosidase deficiency","score":0.9010000228881836},{"id":"https://openalex.org/keywords/exon-skipping","display_name":"exon skipping","score":0.5659999847412109},{"id":"https://openalex.org/keywords/antisense-oligonucleotides","display_name":"antisense oligonucleotides","score":0.906000018119812},{"id":"https://openalex.org/keywords/splicing-modulation","display_name":"splicing modulation","score":0.7630000114440918},{"id":"https://openalex.org/keywords/cryptic-splice-site","display_name":"cryptic splice site","score":0.9110000133514404},{"id":"https://openalex.org/keywords/polypyrimidine-tract","display_name":"polypyrimidine tract","score":0.8410000205039978},{"id":"https://openalex.org/keywords/pre-mrna-splicing","display_name":"pre-mRNA splicing","score":0.7630000114440918},{"id":"https://openalex.org/keywords/splicing-regulators","display_name":"splicing regulators","score":0.6299999952316284}],"concepts":[{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.8203358054161072},{"id":"https://openalex.org/C54458228","wikidata":"https://www.wikidata.org/wiki/Q237218","display_name":"RNA splicing","level":4,"score":0.7951005697250366},{"id":"https://openalex.org/C2778776201","wikidata":"https://www.wikidata.org/wiki/Q3474283","display_name":"Exon skipping","level":5,"score":0.7705248594284058},{"id":"https://openalex.org/C3763915","wikidata":"https://www.wikidata.org/wiki/Q3331437","display_name":"Myogenesis","level":3,"score":0.7194309830665588},{"id":"https://openalex.org/C72994624","wikidata":"https://www.wikidata.org/wiki/Q7226900","display_name":"Polypyrimidine tract","level":5,"score":0.665640652179718},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.655539333820343},{"id":"https://openalex.org/C62257209","wikidata":"https://www.wikidata.org/wiki/Q5487490","display_name":"Splice site mutation","level":5,"score":0.5643083453178406},{"id":"https://openalex.org/C94671646","wikidata":"https://www.wikidata.org/wiki/Q207551","display_name":"Intron","level":3,"score":0.5334636569023132},{"id":"https://openalex.org/C42576000","wikidata":"https://www.wikidata.org/wiki/Q5420618","display_name":"Exonic splicing enhancer","level":5,"score":0.4318586587905884},{"id":"https://openalex.org/C2780989783","wikidata":"https://www.wikidata.org/wiki/Q7578557","display_name":"splice","level":3,"score":0.4274592697620392},{"id":"https://openalex.org/C194583182","wikidata":"https://www.wikidata.org/wiki/Q21114084","display_name":"Alternative splicing","level":4,"score":0.40102559328079224},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.39962995052337646},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.39546290040016174},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3917238116264343},{"id":"https://openalex.org/C207200792","wikidata":"https://www.wikidata.org/wiki/Q428914","display_name":"Myocyte","level":2,"score":0.2913040518760681},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.15050020813941956},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13165533542633057}],"mesh":[],"locations_count":10,"locations":[{"id":"doi:10.1016/j.omtn.2017.03.002","doi":"https://doi.org/10.1016/j.omtn.2017.03.002","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.omtn.2017.03.002","pdf_url":"http://www.cell.com/article/S2162253117301403/pdf","source":{"id":"https://openalex.org/S2764969478","display_name":"Molecular Therapy \u2014 Nucleic Acids","issn_l":"2162-2531","issn":["2162-2531"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jufo-1","ki-jl-1","norway-1","poland-140","vabb-shw"],"host_organization":"https://openalex.org/P4310315673","host_organization_name":"Cell Press","host_organization_lineage":["https://openalex.org/P4310315673","https://openalex.org/P4310320990"],"host_organization_lineage_names":["Cell Press","Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Therapy - Nucleic Acids","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:4268660","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5415960","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:5415960","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5415960","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mol Ther Nucleic Acids","raw_type":"Text"},{"id":"pmid:28624186","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28624186","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular therapy. Nucleic acids","raw_type":"Journal Article"},{"id":"pmh:oai:pure.eur.nl:openaire/c0fcaa02-39e9-4848-be6a-5b1fb31c3169","doi":null,"is_oa":true,"landing_page_url":"https://pure.eur.nl/en/publications/c0fcaa02-39e9-4848-be6a-5b1fb31c3169","pdf_url":"https://pure.eur.nl/files/47815237/REPUB_100572.pdf","source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Wal, E, Bergsma, A, Gestel, T, in 't Groen, S, Zaehres, H, Arauzo-Bravo, MJ, Scholer, HR, van der Ploeg, A & Pijnappel, P 2017, 'GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells', Molecular therapy. Nucleic acids, vol. 7, pp. 101-115. https://doi.org/10.1016/j.omtn.2017.03.002","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:eur:oai:pure.eur.nl:publications/c0fcaa02-39e9-4848-be6a-5b1fb31c3169","doi":null,"is_oa":true,"landing_page_url":"https://pure.eur.nl/en/publications/c0fcaa02-39e9-4848-be6a-5b1fb31c3169","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Molecular therapy. Nucleic acids, 7, 101 - 115. Cell Press","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:eur:oai:repub.eur.nl:100572","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/1765/100572","pdf_url":null,"source":{"id":"https://openalex.org/S4377196287","display_name":"RePub (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:9f9c7d67ca804d6bbf6aabc1dbc487b8","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/9f9c7d67ca804d6bbf6aabc1dbc487b8","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Molecular Therapy: Nucleic Acids, Vol 7, Iss C, Pp 101-115 (2017)","raw_type":"article"},{"id":"pmh:oai:edoc.mpg.de:744092","doi":null,"is_oa":false,"landing_page_url":"http://edoc.mpg.de/744092","pdf_url":null,"source":{"id":"https://openalex.org/S4406922265","display_name":"Max Planck Institute for Plasma Physics","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Mol Ther Nucleic Acids, v.7, 101-115 (2017)","raw_type":"Article"},{"id":"pmh:oai:repub.eur.nl:100572","doi":null,"is_oa":false,"landing_page_url":"https://repub.eur.nl/pub/100572","pdf_url":null,"source":{"id":"https://openalex.org/S4377196287","display_name":"RePub (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Molecular Therapy - Nucleic Acids vol. 7, pp. 101-115","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1016/j.omtn.2017.03.002","doi":"https://doi.org/10.1016/j.omtn.2017.03.002","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.omtn.2017.03.002","pdf_url":"http://www.cell.com/article/S2162253117301403/pdf","source":{"id":"https://openalex.org/S2764969478","display_name":"Molecular Therapy \u2014 Nucleic Acids","issn_l":"2162-2531","issn":["2162-2531"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jufo-1","ki-jl-1","norway-1","poland-140","vabb-shw"],"host_organization":"https://openalex.org/P4310315673","host_organization_name":"Cell Press","host_organization_lineage":["https://openalex.org/P4310315673","https://openalex.org/P4310320990"],"host_organization_lineage_names":["Cell Press","Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Therapy - Nucleic Acids","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9476000070571899,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[{"id":"https://openalex.org/G1409950704","display_name":null,"funder_award_id":"W. OR13-21","funder_id":"https://openalex.org/F4320322485","funder_display_name":"Prinses Beatrix Spierfonds"},{"id":"https://openalex.org/G4138749820","display_name":null,"funder_award_id":"W.OR13-21","funder_id":"https://openalex.org/F4320327989","funder_display_name":"Stichting Spieren voor Spieren"}],"funders":[{"id":"https://openalex.org/F4320312688","display_name":"Children's Hospital Foundation","ror":"https://ror.org/03g60bf21"},{"id":"https://openalex.org/F4320321687","display_name":"Erasmus Medisch Centrum","ror":"https://ror.org/018906e22"},{"id":"https://openalex.org/F4320322485","display_name":"Prinses Beatrix Spierfonds","ror":"https://ror.org/0011f2t53"},{"id":"https://openalex.org/F4320327989","display_name":"Stichting Spieren voor Spieren","ror":"https://ror.org/01d22zt92"},{"id":"https://openalex.org/F4320335551","display_name":"Erasmus+","ror":"https://ror.org/01v2m4n16"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2603628512.pdf","grobid_xml":"https://content.openalex.org/works/W2603628512.grobid-xml"},"referenced_works_count":52,"referenced_works":["https://openalex.org/W202703229","https://openalex.org/W294359666","https://openalex.org/W1774217609","https://openalex.org/W1953958400","https://openalex.org/W1971436489","https://openalex.org/W1988631157","https://openalex.org/W1988793208","https://openalex.org/W1992387789","https://openalex.org/W2012799716","https://openalex.org/W2013759235","https://openalex.org/W2015703333","https://openalex.org/W2027487654","https://openalex.org/W2045433402","https://openalex.org/W2045791858","https://openalex.org/W2050376269","https://openalex.org/W2065505409","https://openalex.org/W2070456203","https://openalex.org/W2074889280","https://openalex.org/W2075899152","https://openalex.org/W2082175825","https://openalex.org/W2086441889","https://openalex.org/W2087416714","https://openalex.org/W2092433968","https://openalex.org/W2095643828","https://openalex.org/W2096264344","https://openalex.org/W2099013108","https://openalex.org/W2100033085","https://openalex.org/W2109972881","https://openalex.org/W2115149771","https://openalex.org/W2147842901","https://openalex.org/W2154167928","https://openalex.org/W2163640091","https://openalex.org/W2165220352","https://openalex.org/W2166508127","https://openalex.org/W2166919358","https://openalex.org/W2250152456","https://openalex.org/W2259200134","https://openalex.org/W2294086086","https://openalex.org/W2300951885","https://openalex.org/W2398889972","https://openalex.org/W2401496253","https://openalex.org/W2411634967","https://openalex.org/W2411704989","https://openalex.org/W2412131977","https://openalex.org/W2417305259","https://openalex.org/W2467743933","https://openalex.org/W2469663448","https://openalex.org/W2516263853","https://openalex.org/W2520062272","https://openalex.org/W2520424538","https://openalex.org/W2522016088","https://openalex.org/W2601192680"],"related_works":["https://openalex.org/W3083946933","https://openalex.org/W2755215583","https://openalex.org/W2601192680","https://openalex.org/W4309329600","https://openalex.org/W3016702310","https://openalex.org/W2960544069","https://openalex.org/W2794497647","https://openalex.org/W4214614663","https://openalex.org/W2620068737","https://openalex.org/W4407127428"],"abstract_inverted_index":{"Pompe":[0],"disease":[1,45,191],"is":[2,37],"a":[3,100,125,134],"metabolic":[4],"myopathy":[5],"caused":[6],"by":[7,110],"deficiency":[8],"of":[9,20,114,124,133,142,147,162,173,186],"the":[10,38,43,112,120,143,148,163,171,184],"acid":[11],"\u03b1-glucosidase":[12],"(GAA)":[13],"enzyme":[14,179],"and":[15,36,88,166,176,192],"results":[16,182],"in":[17,59,72,97,104,137,189],"progressive":[18],"wasting":[19],"skeletal":[21,73],"muscle":[22,74],"cells.":[23,75],"The":[24,159],"c.-32-13T>G":[25],"(IVS1)":[26],"GAA":[27,55,70,138,155,178],"variant":[28,41],"promotes":[29],"exon":[30,56,136,150,156],"2":[31,57,157],"skipping":[32],"during":[33],"pre-mRNA":[34],"splicing":[35,71,96,116,175,188,199],"most":[39],"common":[40],"for":[42,198],"childhood/adult":[44],"form.":[46],"We":[47],"previously":[48],"identified":[49],"antisense":[50],"oligonucleotides":[51],"(AONs)":[52],"that":[53,107,130],"promoted":[54,154],"inclusion":[58],"patient-derived":[60],"fibroblasts.":[61],"It":[62],"was":[63,131],"unknown":[64],"how":[65],"these":[66,90],"AONs":[67,94,118,152],"would":[68],"affect":[69],"To":[76],"test":[77],"this,":[78],"we":[79],"expanded":[80],"induced":[81],"pluripotent":[82],"stem":[83],"cell":[84],"(iPSC)-derived":[85],"myogenic":[86],"progenitors":[87],"differentiated":[89],"to":[91,99],"multinucleated":[92],"myotubes.":[93],"restored":[95,170],"myotubes":[98],"similar":[101],"extent":[102],"as":[103,195],"fibroblasts,":[105],"suggesting":[106],"they":[108],"act":[109],"modulating":[111],"action":[113],"shared":[115],"regulators.":[117],"targeted":[119],"putative":[121],"polypyrimidine":[122],"tract":[123],"cryptic":[126,144,164,167,187],"splice":[127,145],"acceptor":[128,165],"site":[129],"part":[132],"pseudo":[135,149],"intron":[139],"1.":[140],"Blocking":[141],"donor":[146,168],"with":[151],"likewise":[153],"inclusion.":[158],"simultaneous":[160],"blocking":[161],"sites":[169],"majority":[172],"canonical":[174],"alleviated":[177],"deficiency.":[180],"These":[181],"highlight":[183],"relevance":[185],"human":[190],"its":[193],"potential":[194],"therapeutic":[196],"target":[197],"modulation":[200],"using":[201],"AONs.":[202]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":6},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":10},{"year":2022,"cited_by_count":7},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":14},{"year":2019,"cited_by_count":9},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":2}],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2017-04-07T00:00:00"}