{"id":"https://openalex.org/W2127159798","doi":"https://doi.org/10.1093/hmg/ddt370","title":"A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds","display_name":"A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds","publication_year":2013,"publication_date":"2013-08-13","ids":{"openalex":"https://openalex.org/W2127159798","doi":"https://doi.org/10.1093/hmg/ddt370","mag":"2127159798","pmid":"https://pubmed.ncbi.nlm.nih.gov/23943791","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3842177"},"language":"en","primary_location":{"id":"doi:10.1093/hmg/ddt370","doi":"https://doi.org/10.1093/hmg/ddt370","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddt370","pdf_url":"https://academic.oup.com/hmg/article-pdf/22/25/5173/1543227/ddt370.pdf","source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/hmg/article-pdf/22/25/5173/1543227/ddt370.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5084816644","display_name":"Michele MP Lufino","orcid":"https://orcid.org/0000-0002-0854-9255","observed_orcids":["https://orcid.org/0000-0002-0854-9255"]},"institutions":[{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"M. M. P. Lufino","raw_affiliation_strings":["Department of Physiology, Anatomy and Genetics, University of Oxford, Le Gros Clark Building, South Parks Road, Oxford OX1 3QX, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology, Anatomy and Genetics, University of Oxford, Le Gros Clark Building, South Parks Road, Oxford OX1 3QX, UK","institution_ids":["https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100738382","display_name":"Ana Maria Silva","orcid":"https://orcid.org/0000-0002-2866-9895","observed_orcids":["https://orcid.org/0000-0002-2866-9895"]},"institutions":[{"id":"https://openalex.org/I141596103","display_name":"University of Lisbon","ror":"https://ror.org/01c27hj86","country_code":"PT","type":"education","lineage":["https://openalex.org/I141596103"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB","PT"],"is_corresponding":false,"raw_author_name":"A. M. Silva","raw_affiliation_strings":["Department of Physiology, Anatomy and Genetics, University of Oxford, Le Gros Clark Building, South Parks Road, Oxford OX1 3QX, UK,","Faculdade de Medicina, Universidade de Lisboa, Lisboa 1649-028, Portugal,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology, Anatomy and Genetics, University of Oxford, Le Gros Clark Building, South Parks Road, Oxford OX1 3QX, UK,","institution_ids":["https://openalex.org/I40120149"]},{"raw_affiliation_string":"Faculdade de Medicina, Universidade de Lisboa, Lisboa 1649-028, Portugal,","institution_ids":["https://openalex.org/I141596103"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045147759","display_name":"Andrea Hilary Nemeth","orcid":"https://orcid.org/0000-0002-2941-7657","observed_orcids":["https://orcid.org/0000-0002-2941-7657"]},"institutions":[{"id":"https://openalex.org/I2801179840","display_name":"Churchill Hospital","ror":"https://ror.org/009vheq40","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801179840","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]},{"id":"https://openalex.org/I4210147381","display_name":"Oxford University Hospitals NHS Trust","ror":"https://ror.org/03h2bh287","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210147381"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"A. H. Nemeth","raw_affiliation_strings":["Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford OX3 7LE, UK,","Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford OX3 7LE, UK,","institution_ids":["https://openalex.org/I2801179840","https://openalex.org/I4210147381"]},{"raw_affiliation_string":"Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK,","institution_ids":["https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061370751","display_name":"Javier Alegre\u2010Abarrategui","orcid":"https://orcid.org/0000-0002-5958-7753","observed_orcids":["https://orcid.org/0000-0002-5958-7753"]},"institutions":[{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"J. Alegre-Abarrategui","raw_affiliation_strings":["Department of Physiology, Anatomy and Genetics, University of Oxford, Le Gros Clark Building, South Parks Road, Oxford OX1 3QX, UK,","Oxford Parkinson's Disease Centre, University of Oxford, Le Gros Clark Building, South Parks Road, Oxford OX1 3QX, UK,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology, Anatomy and Genetics, University of Oxford, Le Gros Clark Building, South Parks Road, Oxford OX1 3QX, UK,","institution_ids":["https://openalex.org/I40120149"]},{"raw_affiliation_string":"Oxford Parkinson's Disease Centre, University of Oxford, Le Gros Clark Building, South Parks Road, Oxford OX1 3QX, UK,","institution_ids":["https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005924822","display_name":"Angela J. Russell","orcid":"https://orcid.org/0000-0003-3610-9369","observed_orcids":["https://orcid.org/0000-0003-3610-9369"]},"institutions":[{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"A. J. Russell","raw_affiliation_strings":["Department of Chemistry, Chemistry Research Laboratory and","Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chemistry, Chemistry Research Laboratory and","institution_ids":[]},{"raw_affiliation_string":"Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK","institution_ids":["https://openalex.org/I40120149"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5028723665","display_name":"Richard Wade\u2010Martins","orcid":"https://orcid.org/0000-0001-6691-580X","observed_orcids":["https://orcid.org/0000-0001-6691-580X"]},"institutions":[{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"R. Wade-Martins","raw_affiliation_strings":["Department of Physiology, Anatomy and Genetics, University of Oxford, Le Gros Clark Building, South Parks Road, Oxford OX1 3QX, UK,","Oxford Parkinson's Disease Centre, University of Oxford, Le Gros Clark Building, South Parks Road, Oxford OX1 3QX, UK,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology, Anatomy and Genetics, University of Oxford, Le Gros Clark Building, South Parks Road, Oxford OX1 3QX, UK,","institution_ids":["https://openalex.org/I40120149"]},{"raw_affiliation_string":"Oxford Parkinson's Disease Centre, University of Oxford, Le Gros Clark Building, South Parks Road, Oxford OX1 3QX, UK,","institution_ids":["https://openalex.org/I40120149"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5028723665"],"corresponding_institution_ids":["https://openalex.org/I40120149"],"apc_list":{"value":4390,"currency":"USD","value_usd":4390},"apc_paid":null,"fwci":1.5637,"has_fulltext":true,"cited_by_count":24,"citation_normalized_percentile":{"value":0.79773568,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"22","issue":"25","first_page":"5173","last_page":"5187"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9951000213623047,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9951000213623047,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.0013000000035390258,"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.0007999999797903001,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/friedreich-ataxia","display_name":"Friedreich's ataxia","score":1.0},{"id":"https://openalex.org/keywords/gaa-repeat-expansion","display_name":"GAA repeat expansion","score":0.9789999723434448},{"id":"https://openalex.org/keywords/frataxin-gene","display_name":"frataxin gene","score":0.8640000224113464},{"id":"https://openalex.org/keywords/site-specific-integration","display_name":"site-specific integration","score":0.8040000200271606},{"id":"https://openalex.org/keywords/luciferase-reporter","display_name":"luciferase reporter","score":0.7739999890327454},{"id":"https://openalex.org/keywords/epigenetic-repression","display_name":"epigenetic repression","score":0.7789999842643738},{"id":"https://openalex.org/keywords/histone-acetylation","display_name":"histone acetylation","score":0.9559999704360962},{"id":"https://openalex.org/keywords/small-molecule-screening","display_name":"small molecule screening","score":0.8510000109672546},{"id":"https://openalex.org/keywords/drug-target-identification","display_name":"drug target identification","score":0.6190000176429749}],"concepts":[{"id":"https://openalex.org/C2779314966","wikidata":"https://www.wikidata.org/wiki/Q409999","display_name":"Frataxin","level":4,"score":0.9371983408927917},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7649673819541931},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.652273416519165},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5156010985374451},{"id":"https://openalex.org/C41091548","wikidata":"https://www.wikidata.org/wiki/Q26939","display_name":"Epigenetics","level":3,"score":0.4462434947490692},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.43090352416038513},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.42311811447143555},{"id":"https://openalex.org/C166252455","wikidata":"https://www.wikidata.org/wiki/Q6736610","display_name":"Trinucleotide repeat expansion","level":4,"score":0.4216736853122711},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4032721519470215},{"id":"https://openalex.org/C2779369046","wikidata":"https://www.wikidata.org/wiki/Q6072234","display_name":"Iron-binding proteins","level":3,"score":0.10146459937095642},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000096923","descriptor_name":"Frataxin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002460","descriptor_name":"Cell Line","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005621","descriptor_name":"Friedreich Ataxia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005621","descriptor_name":"Friedreich Ataxia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005621","descriptor_name":"Friedreich Ataxia","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false},{"descriptor_ui":"D006570","descriptor_name":"Heterochromatin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007438","descriptor_name":"Introns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015316","descriptor_name":"Genetic Therapy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015870","descriptor_name":"Gene Expression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017930","descriptor_name":"Genes, Reporter","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019680","descriptor_name":"Trinucleotide Repeat Expansion","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D033862","descriptor_name":"Iron-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.1093/hmg/ddt370","doi":"https://doi.org/10.1093/hmg/ddt370","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddt370","pdf_url":"https://academic.oup.com/hmg/article-pdf/22/25/5173/1543227/ddt370.pdf","source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:3842177","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3842177","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hum Mol Genet","raw_type":"Text"},{"id":"pmid:23943791","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23943791","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 molecular genetics","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.828.2427","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.828.2427","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://hmg.oxfordjournals.org/content/early/2013/08/12/hmg.ddt370.full.pdf","raw_type":"text"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.861.6424","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.861.6424","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://hmg.oxfordjournals.org/content/early/2013/08/19/hmg.ddt370.full.pdf","raw_type":"text"}],"best_oa_location":{"id":"doi:10.1093/hmg/ddt370","doi":"https://doi.org/10.1093/hmg/ddt370","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddt370","pdf_url":"https://academic.oup.com/hmg/article-pdf/22/25/5173/1543227/ddt370.pdf","source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9537000060081482,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G6365803663","display_name":"European Friedreich's Ataxia Consortium for Translational Studies","funder_award_id":"242193","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G7004411822","display_name":"Understanding the genetic basis of common human diseases: core funding for the Wellcome Trust Centre for Human Genetics.","funder_award_id":"090532","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G8946600302","display_name":"Understanding the genetic basis of common human diseases: core funding for the Wellcome Trust Centre for Human Genetics.","funder_award_id":"090532/Z/09/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G8975541179","display_name":null,"funder_award_id":"090532/Z/09/","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"}],"funders":[{"id":"https://openalex.org/F4320306958","display_name":"Friedreich's Ataxia Research Alliance","ror":"https://ror.org/04edgdk70"},{"id":"https://openalex.org/F4320307025","display_name":"National Ataxia Foundation","ror":"https://ror.org/03s9xxw55"},{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320320021","display_name":"Parkinson's UK","ror":"https://ror.org/02417p338"},{"id":"https://openalex.org/F4320320050","display_name":"Ataxia UK","ror":"https://ror.org/03192vt15"},{"id":"https://openalex.org/F4320320300","display_name":"European Commission","ror":"https://ror.org/00k4n6c32"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2127159798.pdf","grobid_xml":"https://content.openalex.org/works/W2127159798.grobid-xml"},"referenced_works_count":64,"referenced_works":["https://openalex.org/W87428505","https://openalex.org/W146312310","https://openalex.org/W147102868","https://openalex.org/W1484379620","https://openalex.org/W1517794590","https://openalex.org/W1555471169","https://openalex.org/W1570661338","https://openalex.org/W1583992601","https://openalex.org/W1685989555","https://openalex.org/W1968488865","https://openalex.org/W1970551361","https://openalex.org/W1970755611","https://openalex.org/W1971493278","https://openalex.org/W1972791578","https://openalex.org/W1986826633","https://openalex.org/W1986984479","https://openalex.org/W1990002392","https://openalex.org/W1992846601","https://openalex.org/W2005315197","https://openalex.org/W2005610014","https://openalex.org/W2011368402","https://openalex.org/W2014020549","https://openalex.org/W2027452510","https://openalex.org/W2027789746","https://openalex.org/W2035706478","https://openalex.org/W2037347440","https://openalex.org/W2037860289","https://openalex.org/W2042953568","https://openalex.org/W2051234541","https://openalex.org/W2052736131","https://openalex.org/W2053504977","https://openalex.org/W2055007938","https://openalex.org/W2057404038","https://openalex.org/W2068499154","https://openalex.org/W2069849662","https://openalex.org/W2071254988","https://openalex.org/W2076790103","https://openalex.org/W2080841746","https://openalex.org/W2082929666","https://openalex.org/W2083209381","https://openalex.org/W2088784554","https://openalex.org/W2100137986","https://openalex.org/W2105564521","https://openalex.org/W2108689460","https://openalex.org/W2111714867","https://openalex.org/W2114190171","https://openalex.org/W2117099883","https://openalex.org/W2133622631","https://openalex.org/W2135982928","https://openalex.org/W2137770909","https://openalex.org/W2138702324","https://openalex.org/W2142402729","https://openalex.org/W2144201007","https://openalex.org/W2145136975","https://openalex.org/W2146797616","https://openalex.org/W2150789570","https://openalex.org/W2151885633","https://openalex.org/W2152874097","https://openalex.org/W2158155007","https://openalex.org/W2164956436","https://openalex.org/W2167352098","https://openalex.org/W2168013509","https://openalex.org/W2169994979","https://openalex.org/W4235019056"],"related_works":["https://openalex.org/W2146797616","https://openalex.org/W2005315197","https://openalex.org/W7100550798","https://openalex.org/W4401496413","https://openalex.org/W2146512185","https://openalex.org/W2144201007","https://openalex.org/W2055007938","https://openalex.org/W2124972471","https://openalex.org/W4318067083","https://openalex.org/W2124657176"],"abstract_inverted_index":{"Friedreich's":[0],"ataxia":[1],"(FRDA)":[2],"is":[3,32],"caused":[4],"by":[5,47,105],"large":[6],"GAA":[7,122,131,165,215],"expansions":[8],"in":[9,110,125,177,203],"intron":[10],"1":[11],"of":[12,37,50,58,66,75,83,92,113,152,163,173,188,191,223,231,236,246],"the":[13,35,48,55,59,81,84,99,107,114,120,126,142,161,168,181,186,214,220,229,234,244],"frataxin":[14,76],"gene":[15,109,116,174,249],"(FXN),":[16],"which":[17,53,199],"lead":[18],"to":[19,148,185],"reduced":[20],"FXN":[21,60,70,87,101,115,156,201],"expression":[22,175,202,242],"through":[23],"a":[24,189],"mechanism":[25,31],"not":[26],"fully":[27],"understood.":[28],"Understanding":[29],"such":[30],"essential":[33],"for":[34,40,228],"identification":[36,235],"novel":[38,192,237],"therapies":[39],"FRDA":[41,204,232],"and":[42,62,68,118,154,171,195,208,233],"this":[43],"can":[44],"be":[45],"accelerated":[46],"development":[49,82],"cell":[51,139,226],"models":[52,227],"recapitulate":[54],"genomic":[56,88,102,224],"context":[57],"locus":[61,104],"allow":[63,149],"direct":[64,150],"comparison":[65,151],"normal":[67,153,210],"expanded":[69,155,164],"loci":[71],"with":[72,128,243],"rapid":[73],"detection":[74],"levels.":[77],"Here":[78],"we":[79],"describe":[80],"first":[85],"GAA-expanded":[86,182],"DNA":[89,103],"reporter":[90,183,225,248],"model":[91,184],"FRDA.":[93,178],"We":[94,135,158,179],"modified":[95],"BAC":[96],"vectors":[97,144],"carrying":[98,141],"whole":[100],"inserting":[106],"luciferase":[108],"exon":[111],"5a":[112],"(pBAC-FXN-Luc)":[117],"replacing":[119],"six":[121],"repeats":[123,166],"present":[124],"vector":[127],"an":[129],"\u223c310":[130],"repeat":[132],"expansion":[133],"(pBAC-FXN-GAA-Luc).":[134],"generated":[136],"human":[137],"clonal":[138],"lines":[140],"two":[143],"using":[145],"site-specific":[146],"integration":[147],"loci.":[157],"demonstrate":[159],"that":[160],"presence":[162],"recapitulates":[167],"epigenetic":[169],"modifications":[170],"repression":[172],"seen":[176],"applied":[180],"screening":[187],"library":[190],"small":[193],"molecules":[194],"identified":[196],"one":[197],"molecule":[198],"up-regulates":[200],"patient":[205],"primary":[206],"cells":[207],"restores":[209],"histone":[211],"acetylation":[212],"around":[213],"repeats.":[216],"These":[217],"results":[218],"suggest":[219],"potential":[221],"use":[222],"study":[230],"therapies,":[238],"combining":[239],"physiologically":[240],"relevant":[241],"advantages":[245],"quantitative":[247],"expression.":[250]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":6}],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2016-06-24T00:00:00"}
