{"id":"https://openalex.org/W3127048444","doi":"https://doi.org/10.1016/j.ymgme.2020.12.047","title":"Generation of \u03b2-Glucocerebrosidase variants with increased half-life in human plasma for liver directed AAV gene therapy aimed at the treatment of Gaucher disease type 1","display_name":"Generation of \u03b2-Glucocerebrosidase variants with increased half-life in human plasma for liver directed AAV gene therapy aimed at the treatment of Gaucher disease type 1","publication_year":2021,"publication_date":"2021-02-01","ids":{"openalex":"https://openalex.org/W3127048444","doi":"https://doi.org/10.1016/j.ymgme.2020.12.047","mag":"3127048444"},"language":"en","primary_location":{"id":"doi:10.1016/j.ymgme.2020.12.047","doi":"https://doi.org/10.1016/j.ymgme.2020.12.047","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2020.12.047","pdf_url":null,"source":{"id":"https://openalex.org/S42433034","display_name":"Molecular Genetics and Metabolism","issn_l":"1096-7192","issn":["1096-7192","1096-7206"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"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/A5012936498","display_name":"Fabrizio Comper","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Fabrizio Comper","raw_affiliation_strings":["Freeline Therapeutics, Stevenage, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Freeline Therapeutics, Stevenage, United Kingdom","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109438126","display_name":"I-Mei Yu","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"I-Mei Yu","raw_affiliation_strings":["Freeline Therapeutics, Stevenage, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Freeline Therapeutics, Stevenage, United Kingdom","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019973776","display_name":"Petya Kalcheva","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Petya Kalcheva","raw_affiliation_strings":["Freeline Therapeutics, Stevenage, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Freeline Therapeutics, Stevenage, United Kingdom","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041420161","display_name":"Carlos J. Miranda","orcid":"https://orcid.org/0000-0001-8208-7100","observed_orcids":["https://orcid.org/0000-0001-8208-7100"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Carlos J. Miranda","raw_affiliation_strings":["Freeline Therapeutics, Stevenage, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Freeline Therapeutics, Stevenage, United Kingdom","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110406457","display_name":"Elisa Chisari","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Elisa Chisari","raw_affiliation_strings":["Freeline Therapeutics, Stevenage, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Freeline Therapeutics, Stevenage, United Kingdom","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072667761","display_name":"Cl\u00e9ment Cocita","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Clement Cocita","raw_affiliation_strings":["Freeline Therapeutics, Stevenage, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Freeline Therapeutics, Stevenage, United Kingdom","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002507722","display_name":"Samantha Correia","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Samantha Correia","raw_affiliation_strings":["Freeline Therapeutics, Stevenage, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Freeline Therapeutics, Stevenage, United Kingdom","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014661279","display_name":"Jalpa Pandya","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jalpa Pandya","raw_affiliation_strings":["Freeline Therapeutics, Stevenage, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Freeline Therapeutics, Stevenage, United Kingdom","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081172820","display_name":"Natalie Northcott","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Natalie Northcott","raw_affiliation_strings":["Freeline Therapeutics, Stevenage, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Freeline Therapeutics, Stevenage, United Kingdom","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068888787","display_name":"Emmaline Stotter","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Emmaline Stotter","raw_affiliation_strings":["Freeline Therapeutics, Stevenage, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Freeline Therapeutics, Stevenage, United Kingdom","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082368622","display_name":"Erald Shehu","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Erald Shehu","raw_affiliation_strings":["Freeline Therapeutics, Stevenage, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Freeline Therapeutics, Stevenage, United Kingdom","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108673584","display_name":"Rose Sheridan","orcid":"https://orcid.org/0009-0003-6773-7082","observed_orcids":["https://orcid.org/0009-0003-6773-7082"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rose Sheridan","raw_affiliation_strings":["Freeline Therapeutics, Stevenage, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Freeline Therapeutics, Stevenage, United Kingdom","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104705974","display_name":"Amit Chunilal Nathwani","orcid":"https://orcid.org/0000-0003-1370-5950","observed_orcids":["https://orcid.org/0000-0003-1370-5950"]},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Amit C. Nathwani","raw_affiliation_strings":["University College London Cancer Institute, London, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University College London Cancer Institute, London, United Kingdom","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5111646887","display_name":"Romuald Corbau","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Romuald Corbau","raw_affiliation_strings":["Freeline Therapeutics, Stevenage, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Freeline Therapeutics, Stevenage, United Kingdom","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3590,"currency":"USD","value_usd":3590},"apc_paid":null,"fwci":0.2018,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.42994031,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"132","issue":"2","first_page":"S27","last_page":"S28"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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":0.00019999999494757503,"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":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"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"}}],"keywords":[{"id":"https://openalex.org/keywords/beta-glucocerebrosidase","display_name":"beta-glucocerebrosidase","score":0.9750000238418579},{"id":"https://openalex.org/keywords/gaucher-disease-type-1","display_name":"Gaucher disease type 1","score":0.9409999847412109},{"id":"https://openalex.org/keywords/aav-gene-therapy","display_name":"AAV gene therapy","score":0.7910000085830688},{"id":"https://openalex.org/keywords/liver-directed-gene-therapy","display_name":"liver-directed gene therapy","score":0.722000002861023},{"id":"https://openalex.org/keywords/protein-half-life","display_name":"protein half-life","score":0.7450000047683716},{"id":"https://openalex.org/keywords/enzyme-replacement-therapy","display_name":"enzyme replacement therapy","score":0.7049999833106995},{"id":"https://openalex.org/keywords/lysosomal-storage-disorders","display_name":"lysosomal storage disease","score":0.8180000185966492}],"concepts":[{"id":"https://openalex.org/C2780674200","wikidata":"https://www.wikidata.org/wiki/Q420038","display_name":"Glucocerebrosidase","level":3,"score":0.8865817785263062},{"id":"https://openalex.org/C111599444","wikidata":"https://www.wikidata.org/wiki/Q213901","display_name":"Genetic enhancement","level":3,"score":0.720318078994751},{"id":"https://openalex.org/C2776723260","wikidata":"https://www.wikidata.org/wiki/Q861645","display_name":"Gaucher's disease","level":3,"score":0.6709561944007874},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4988579750061035},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4964047074317932},{"id":"https://openalex.org/C3020134792","wikidata":"https://www.wikidata.org/wiki/Q79749","display_name":"Human plasma","level":2,"score":0.45828360319137573},{"id":"https://openalex.org/C2779994418","wikidata":"https://www.wikidata.org/wiki/Q3083126","display_name":"Glucocerebroside","level":4,"score":0.41679826378822327},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.41433364152908325},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2814391851425171},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2757863998413086},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2676849365234375},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.1312256157398224},{"id":"https://openalex.org/C43617362","wikidata":"https://www.wikidata.org/wiki/Q170050","display_name":"Chromatography","level":1,"score":0.04177471995353699}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.ymgme.2020.12.047","doi":"https://doi.org/10.1016/j.ymgme.2020.12.047","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ymgme.2020.12.047","pdf_url":null,"source":{"id":"https://openalex.org/S42433034","display_name":"Molecular Genetics and Metabolism","issn_l":"1096-7192","issn":["1096-7192","1096-7206"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4391380947","https://openalex.org/W4410203020","https://openalex.org/W7127292046","https://openalex.org/W4406981915","https://openalex.org/W7127323296","https://openalex.org/W7127366292","https://openalex.org/W3128928892","https://openalex.org/W2912927058","https://openalex.org/W2988489814","https://openalex.org/W7127454243"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2021-02-15T00:00:00"}
