{"id":"https://openalex.org/W2020970293","doi":"https://doi.org/10.1089/104303401300042447","title":"Intercellular Transfer of the Virally Derived Precursor Form of Acid \u03b1-Glucosidase Corrects the Enzyme Deficiency in Inherited Cardioskeletal Myopathy Pompe Disease","display_name":"Intercellular Transfer of the Virally Derived Precursor Form of Acid \u03b1-Glucosidase Corrects the Enzyme Deficiency in Inherited Cardioskeletal Myopathy Pompe Disease","publication_year":2001,"publication_date":"2001-03-20","ids":{"openalex":"https://openalex.org/W2020970293","doi":"https://doi.org/10.1089/104303401300042447","mag":"2020970293","pmid":"https://pubmed.ncbi.nlm.nih.gov/11268285"},"language":"en","primary_location":{"id":"doi:10.1089/104303401300042447","doi":"https://doi.org/10.1089/104303401300042447","is_oa":false,"landing_page_url":"https://doi.org/10.1089/104303401300042447","pdf_url":null,"source":{"id":"https://openalex.org/S39730559","display_name":"Human Gene Therapy","issn_l":"1043-0342","issn":["1043-0342","1557-7422"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320443","host_organization_name":"Mary Ann Liebert, Inc.","host_organization_lineage":["https://openalex.org/P4310320443","https://openalex.org/P4310320017"],"host_organization_lineage_names":["Mary Ann Liebert, Inc.","SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Gene Therapy","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5008317354","display_name":"Daniel F Pauly","orcid":"https://orcid.org/0000-0003-3756-4793","observed_orcids":["https://orcid.org/0000-0003-3756-4793"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]},{"id":"https://openalex.org/I33213144","display_name":"University of Florida","ror":"https://ror.org/02y3ad647","country_code":"US","type":"education","lineage":["https://openalex.org/I33213144"]},{"id":"https://openalex.org/I4210150714","display_name":"Johns Hopkins Hospital","ror":"https://ror.org/05cb1k848","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436","https://openalex.org/I4210150714"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Daniel F. Pauly","raw_affiliation_strings":["Peter Belfer Cardiac Laboratory and Departments of Medicine, Pediatrics, and Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287 and Gene Therapy Center and Departments of Medicine, Pediatrics, and Molecular Genetics, University of Florida College of Medicine, Gainesville, FL 32610"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Peter Belfer Cardiac Laboratory and Departments of Medicine, Pediatrics, and Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287 and Gene Therapy Center and Departments of Medicine, Pediatrics, and Molecular Genetics, University of Florida College of Medicine, Gainesville, FL 32610","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436","https://openalex.org/I33213144","https://openalex.org/I4210150714"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066693493","display_name":"Thomas J. Fraites","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800717037","display_name":"University of Florida Health","ror":"https://ror.org/04tk2gy88","country_code":"US","type":"education","lineage":["https://openalex.org/I2800717037","https://openalex.org/I33213144"]},{"id":"https://openalex.org/I33213144","display_name":"University of Florida","ror":"https://ror.org/02y3ad647","country_code":"US","type":"education","lineage":["https://openalex.org/I33213144"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Thomas J. Fraites","raw_affiliation_strings":["Gene Therapy Center and Departments of Medicine, Pediatrics, and Molecular Genetics, University of Florida College of Medicine, Gainesville, FL 32610"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gene Therapy Center and Departments of Medicine, Pediatrics, and Molecular Genetics, University of Florida College of Medicine, Gainesville, FL 32610","institution_ids":["https://openalex.org/I2800717037","https://openalex.org/I33213144"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028485276","display_name":"Catalin Toma","orcid":"https://orcid.org/0000-0003-0187-2962","observed_orcids":["https://orcid.org/0000-0003-0187-2962"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Catalin Toma","raw_affiliation_strings":["Peter Belfer Cardiac Laboratory and Departments of Medicine, Pediatrics, and Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Peter Belfer Cardiac Laboratory and Departments of Medicine, Pediatrics, and Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036942483","display_name":"Helen S. Bayes","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Helen S. Bayes","raw_affiliation_strings":["Peter Belfer Cardiac Laboratory and Departments of Medicine, Pediatrics, and Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Peter Belfer Cardiac Laboratory and Departments of Medicine, Pediatrics, and Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080277666","display_name":"Maryann L. Huie","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210086933","display_name":"NYU Langone Health","ror":"https://ror.org/005dvqh91","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210086933"]},{"id":"https://openalex.org/I57206974","display_name":"New York University","ror":"https://ror.org/0190ak572","country_code":"US","type":"education","lineage":["https://openalex.org/I57206974"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Maryann L. Huie","raw_affiliation_strings":["Department of Internal Medicine, New York University Medical Center, New York, NY 10016"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, New York University Medical Center, New York, NY 10016","institution_ids":["https://openalex.org/I4210086933","https://openalex.org/I57206974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113695897","display_name":"Rochelle Hirschhorn","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210086933","display_name":"NYU Langone Health","ror":"https://ror.org/005dvqh91","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210086933"]},{"id":"https://openalex.org/I57206974","display_name":"New York University","ror":"https://ror.org/0190ak572","country_code":"US","type":"education","lineage":["https://openalex.org/I57206974"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rochelle Hirschhorn","raw_affiliation_strings":["Department of Internal Medicine, New York University Medical Center, New York, NY 10016"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, New York University Medical Center, New York, NY 10016","institution_ids":["https://openalex.org/I4210086933","https://openalex.org/I57206974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056507445","display_name":"Paul H. Pl\u00f6tz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210087962","display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","ror":"https://ror.org/006zn3t30","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210087962"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Paul H. Plotz","raw_affiliation_strings":["Arthritis and Rheumatism Branch, National Institute of Arthritis, Musculoskeletal, and Skin Diseases, National Institutes of Health, Bethesda, MD 20892"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Arthritis and Rheumatism Branch, National Institute of Arthritis, Musculoskeletal, and Skin Diseases, National Institutes of Health, Bethesda, MD 20892","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210087962"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061131591","display_name":"Nina Raben","orcid":"https://orcid.org/0000-0001-9519-3535","observed_orcids":["https://orcid.org/0000-0001-9519-3535"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210087962","display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","ror":"https://ror.org/006zn3t30","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210087962"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nina Raben","raw_affiliation_strings":["Arthritis and Rheumatism Branch, National Institute of Arthritis, Musculoskeletal, and Skin Diseases, National Institutes of Health, Bethesda, MD 20892"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Arthritis and Rheumatism Branch, National Institute of Arthritis, Musculoskeletal, and Skin Diseases, National Institutes of Health, Bethesda, MD 20892","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210087962"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103851986","display_name":"Paul Kessler","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Paul D. Kessler","raw_affiliation_strings":["Peter Belfer Cardiac Laboratory and Departments of Medicine, Pediatrics, and Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Peter Belfer Cardiac Laboratory and Departments of Medicine, Pediatrics, and Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5072518895","display_name":"Barry J. Byrne","orcid":"https://orcid.org/0000-0002-7302-1756","observed_orcids":["https://orcid.org/0000-0002-7302-1756"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]},{"id":"https://openalex.org/I33213144","display_name":"University of Florida","ror":"https://ror.org/02y3ad647","country_code":"US","type":"education","lineage":["https://openalex.org/I33213144"]},{"id":"https://openalex.org/I4210150714","display_name":"Johns Hopkins Hospital","ror":"https://ror.org/05cb1k848","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436","https://openalex.org/I4210150714"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Barry J. Byrne","raw_affiliation_strings":["Peter Belfer Cardiac Laboratory and Departments of Medicine, Pediatrics, and Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287 and Gene Therapy Center and Departments of Medicine, Pediatrics, and Molecular Genetics, University of Florida College of Medicine, Gainesville, FL 32610"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Peter Belfer Cardiac Laboratory and Departments of Medicine, Pediatrics, and Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287 and Gene Therapy Center and Departments of Medicine, Pediatrics, and Molecular Genetics, University of Florida College of Medicine, Gainesville, FL 32610","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436","https://openalex.org/I33213144","https://openalex.org/I4210150714"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":9,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":2.5895,"has_fulltext":false,"cited_by_count":50,"citation_normalized_percentile":{"value":0.88644675,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"12","issue":"5","first_page":"527","last_page":"538"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9965999722480774,"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":0.9965999722480774,"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/T10613","display_name":"Virus-based gene therapy research","score":0.002300000051036477,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0007999999797903001,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/pompe-disease","display_name":"Pompe disease","score":0.9950000047683716},{"id":"https://openalex.org/keywords/acid-alpha-glucosidase","display_name":"acid alpha-glucosidase","score":0.9100000262260437},{"id":"https://openalex.org/keywords/mannose-6-phosphate-receptor","display_name":"mannose 6-phosphate receptor","score":0.8539999723434448},{"id":"https://openalex.org/keywords/endocytosis","display_name":"endocytosis","score":0.7369999885559082},{"id":"https://openalex.org/keywords/lysosomal-enzyme-trafficking","display_name":"lysosomal enzyme trafficking","score":0.6589999794960022},{"id":"https://openalex.org/keywords/adenovirus-mediated-gene-therapy","display_name":"adenoviral gene therapy","score":0.8479999899864197},{"id":"https://openalex.org/keywords/e1-deleted-adenovirus","display_name":"E1-deleted adenovirus","score":0.8479999899864197},{"id":"https://openalex.org/keywords/recombinant-enzyme-secretion","display_name":"recombinant enzyme secretion","score":0.7940000295639038},{"id":"https://openalex.org/keywords/fibroblasts","display_name":"fibroblasts","score":0.6510000228881836},{"id":"https://openalex.org/keywords/skeletal-muscle","display_name":"skeletal muscle","score":0.8859999775886536},{"id":"https://openalex.org/keywords/gaa-knockout-mice","display_name":"Gaa knockout mice","score":0.6890000104904175}],"concepts":[{"id":"https://openalex.org/C2779969927","wikidata":"https://www.wikidata.org/wiki/Q916766","display_name":"Enzyme replacement therapy","level":3,"score":0.8277532458305359},{"id":"https://openalex.org/C40767141","wikidata":"https://www.wikidata.org/wiki/Q285697","display_name":"Recombinant DNA","level":3,"score":0.6705543398857117},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.5630389451980591},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5454857349395752},{"id":"https://openalex.org/C81885089","wikidata":"https://www.wikidata.org/wiki/Q189082","display_name":"Cell culture","level":2,"score":0.5291215181350708},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.5214423537254333},{"id":"https://openalex.org/C2778264360","wikidata":"https://www.wikidata.org/wiki/Q675010","display_name":"Lysosomal storage disease","level":3,"score":0.5022029876708984},{"id":"https://openalex.org/C28005876","wikidata":"https://www.wikidata.org/wiki/Q189814","display_name":"Endocytosis","level":3,"score":0.4994022846221924},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4788672626018524},{"id":"https://openalex.org/C54009773","wikidata":"https://www.wikidata.org/wiki/Q1429031","display_name":"Transfection","level":3,"score":0.4545934796333313},{"id":"https://openalex.org/C2776735236","wikidata":"https://www.wikidata.org/wiki/Q1365789","display_name":"Glycogen storage disease type II","level":4,"score":0.44762206077575684},{"id":"https://openalex.org/C60278653","wikidata":"https://www.wikidata.org/wiki/Q5008075","display_name":"C2C12","level":4,"score":0.44457489252090454},{"id":"https://openalex.org/C207200792","wikidata":"https://www.wikidata.org/wiki/Q428914","display_name":"Myocyte","level":2,"score":0.4104834794998169},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.39009323716163635},{"id":"https://openalex.org/C1491633281","wikidata":"https://www.wikidata.org/wiki/Q7868","display_name":"Cell","level":2,"score":0.3155066967010498},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.15657243132591248},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09630689024925232},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.08534121513366699},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.08268213272094727},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.0},{"id":"https://openalex.org/C3763915","wikidata":"https://www.wikidata.org/wiki/Q3331437","display_name":"Myogenesis","level":3,"score":0.0},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000256","descriptor_name":"Adenoviridae","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000520","descriptor_name":"alpha-Glucosidases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006009","descriptor_name":"Glycogen Storage Disease Type II","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006009","descriptor_name":"Glycogen Storage Disease Type II","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007150","descriptor_name":"Immunohistochemistry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008247","descriptor_name":"Lysosomes","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008360","descriptor_name":"Mannosephosphates","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008819","descriptor_name":"Mice, Nude","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009206","descriptor_name":"Myocardium","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D010920","descriptor_name":"Placenta","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D011994","descriptor_name":"Recombinant Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D013997","descriptor_name":"Time Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014161","descriptor_name":"Transduction, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015153","descriptor_name":"Blotting, Western","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015316","descriptor_name":"Genetic Therapy","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D017527","descriptor_name":"Receptor, IGF Type 2","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018014","descriptor_name":"Gene Transfer Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018076","descriptor_name":"DNA, Complementary","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018345","descriptor_name":"Mice, Knockout","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":false},{"descriptor_ui":"D018920","descriptor_name":"Coculture Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1089/104303401300042447","doi":"https://doi.org/10.1089/104303401300042447","is_oa":false,"landing_page_url":"https://doi.org/10.1089/104303401300042447","pdf_url":null,"source":{"id":"https://openalex.org/S39730559","display_name":"Human Gene Therapy","issn_l":"1043-0342","issn":["1043-0342","1557-7422"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320443","host_organization_name":"Mary Ann Liebert, Inc.","host_organization_lineage":["https://openalex.org/P4310320443","https://openalex.org/P4310320017"],"host_organization_lineage_names":["Mary Ann Liebert, Inc.","SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Gene Therapy","raw_type":"journal-article"},{"id":"pmid:11268285","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11268285","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":"Human gene therapy","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1142261105","display_name":null,"funder_award_id":"N01 HD-23144","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G1191055758","display_name":null,"funder_award_id":"HL7227","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G1965936037","display_name":null,"funder_award_id":"HL27867","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G2741980964","display_name":"CALCIUM ION CONTROL IN CARDIAC FUNCTION","funder_award_id":"5p01hl027867-20","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320306230","display_name":"American Heart Association","ror":"https://ror.org/013kjyp64"},{"id":"https://openalex.org/F4320310145","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":43,"referenced_works":["https://openalex.org/W39175234","https://openalex.org/W75161736","https://openalex.org/W1501325364","https://openalex.org/W1581834336","https://openalex.org/W1601031354","https://openalex.org/W1786920819","https://openalex.org/W1965172479","https://openalex.org/W1975117307","https://openalex.org/W1978075796","https://openalex.org/W1978969407","https://openalex.org/W1988631157","https://openalex.org/W1988798016","https://openalex.org/W1995818628","https://openalex.org/W2014010760","https://openalex.org/W2015111081","https://openalex.org/W2019247095","https://openalex.org/W2020546345","https://openalex.org/W2020872680","https://openalex.org/W2025176744","https://openalex.org/W2030487155","https://openalex.org/W2030827836","https://openalex.org/W2040268666","https://openalex.org/W2058350049","https://openalex.org/W2068012172","https://openalex.org/W2093936558","https://openalex.org/W2095093948","https://openalex.org/W2106911160","https://openalex.org/W2115864709","https://openalex.org/W2122377406","https://openalex.org/W2126464081","https://openalex.org/W2127608615","https://openalex.org/W2131424376","https://openalex.org/W2144713007","https://openalex.org/W2144714494","https://openalex.org/W2146999721","https://openalex.org/W2156693225","https://openalex.org/W2163435252","https://openalex.org/W2169903403","https://openalex.org/W2403719174","https://openalex.org/W2419047398","https://openalex.org/W2474807101","https://openalex.org/W4234505218","https://openalex.org/W4242169888"],"related_works":["https://openalex.org/W2058350049","https://openalex.org/W1998135511","https://openalex.org/W2122377406","https://openalex.org/W2034104085","https://openalex.org/W1986773071","https://openalex.org/W2015970244","https://openalex.org/W2754318686","https://openalex.org/W2146999721","https://openalex.org/W3015420073","https://openalex.org/W1712750886"],"abstract_inverted_index":{"Pompe":[0],"disease":[1],"is":[2,30,63,242,257,317],"a":[3,38,74,140,245,311,339],"lethal":[4],"cardioskeletal":[5],"myopathy":[6],"in":[7,56,244,248,265,294],"infants":[8],"and":[9,112,132,146,199,254,321],"results":[10],"from":[11,96,103,135,158,231],"genetic":[12],"deficiency":[13],"of":[14,23,42,47,60,73,87,122,151,156,203,217,268,313,345],"the":[15,24,54,68,85,136,152,159,163,171,197,204,269,333],"lysosomal":[16,201,246],"enzyme":[17,88,218,255,315],"acid":[18],"alpha-glucosidase":[19],"(GAA).":[20],"Genetic":[21],"replacement":[22],"cDNA":[25],"for":[26,342],"human":[27,51,225,307],"GAA":[28,52,308],"(hGAA)":[29],"one":[31],"potential":[32],"therapeutic":[33],"approach.":[34],"Three":[35],"months":[36],"after":[37],"single":[39],"intramuscular":[40],"injection":[41],"10(8)":[43],"plaque-forming":[44],"units":[45],"(PFU)":[46],"E1-deleted":[48],"adenovirus":[49,302],"encoding":[50,303],"(Ad-hGAA),":[53],"activity":[55,219,256],"whole":[57],"muscle":[58,228,250,262,273,323],"lysates":[59],"immunodeficient":[61],"mice":[62,296],"increased":[64],"to":[65,93,118,188,196,223,259,319],"20":[66],"times":[67],"native":[69],"level.":[70],"Direct":[71],"transduction":[72,300],"target":[75],"muscle,":[76],"however,":[77],"may":[78],"not":[79],"correct":[80],"all":[81],"deficient":[82,94,260],"cells.":[83],"Therefore,":[84],"amount":[86],"that":[89,220,298,316,332],"can":[90,176,309],"be":[91,177],"transferred":[92,258],"cells":[95,99,161,251,263,274],"virally":[97,346],"transduced":[98,108,237],"was":[100],"studied.":[101],"Fibroblasts":[102],"an":[104,232],"affected":[105,233],"patient":[106,234],"were":[107,127,133,235],"with":[109,238,286,301],"AdhGAA,":[110],"washed,":[111],"plated":[113,128],"on":[114],"transwell":[115],"culture":[116,164],"dishes":[117],"serve":[119],"as":[120,129,281],"donors":[121],"recombinant":[123,209,314,348],"enzyme.":[124,205],"Deficient":[125],"fibroblasts":[126,207],"acceptor":[130,172],"cells,":[131,173],"separated":[134],"donor":[137,160],"monolayer":[138],"by":[139,180,211,252,283],"22-microm":[141],"pore":[142],"size":[143],"filter.":[144],"Enzymatic":[145],"Western":[147,191],"analyses":[148],"demonstrate":[149,297],"secretion":[150],"110-kDa":[153,168],"precursor":[154,270],"form":[155],"hGAA":[157,210,241],"into":[162],"medium.":[165],"This":[166],"recombinant,":[167],"species":[169],"reaches":[170],"where":[174,190],"it":[175],"taken":[178],"up":[179],"mannose":[181,278,289,334],"6-phosphate":[182,279,335],"receptor-mediated":[183],"endocytosis.":[184],"It":[185],"then":[186],"trafficks":[187],"lysosomes,":[189],"analysis":[192],"shows":[193],"proteolytic":[194],"processing":[195],"76-":[198],"70-kDa":[200],"forms":[202],"Patient":[206],"receiving":[208],"this":[212,325],"transfer":[213],"mechanism":[214],"reach":[215],"levels":[216],"are":[221],"comparable":[222],"normal":[224],"fibroblasts.":[226],"Skeletal":[227],"cell":[229],"cultures":[230],"also":[236],"Ad-hGAA.":[239],"Recombinant":[240],"identified":[243],"location":[247],"these":[249,329],"immunocytochemistry,":[253],"skeletal":[261,322],"grown":[264],"coculture.":[266],"Transfer":[267],"protein":[271],"between":[272],"again":[275],"occurs":[276],"via":[277],"receptors,":[280],"evidenced":[282],"competitive":[284],"inhibition":[285],"5":[287],"mM":[288],"6-phosphate.":[290],"In":[291],"vivo":[292],"studies":[293],"GAA-knockout":[295],"hepatic":[299],"either":[304],"murine":[305],"or":[306],"provide":[310],"depot":[312],"available":[318],"heart":[320],"through":[324],"mechanism.":[326],"Taken":[327],"together,":[328],"data":[330],"show":[331],"receptor":[336],"pathway":[337],"provides":[338],"useful":[340],"strategy":[341],"cell-to-cell":[343],"distribution":[344],"derived":[347],"GAA.":[349]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":4},{"year":2019,"cited_by_count":5},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}