{"id":"https://openalex.org/W2019430733","doi":"https://doi.org/10.1371/journal.pone.0084042","title":"Genetic Background Alters the Severity and Onset of Neuromuscular Disease Caused by the Loss of Ubiquitin-Specific Protease 14 (Usp14)","display_name":"Genetic Background Alters the Severity and Onset of Neuromuscular Disease Caused by the Loss of Ubiquitin-Specific Protease 14 (Usp14)","publication_year":2013,"publication_date":"2013-12-16","ids":{"openalex":"https://openalex.org/W2019430733","doi":"https://doi.org/10.1371/journal.pone.0084042","mag":"2019430733","pmid":"https://pubmed.ncbi.nlm.nih.gov/24358326","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3865287"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pone.0084042","doi":"https://doi.org/10.1371/journal.pone.0084042","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0084042","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0084042&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS ONE","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0084042&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5008707709","display_name":"Andrea Gail Marshall","orcid":"https://orcid.org/0000-0001-9997-4478","observed_orcids":["https://orcid.org/0000-0001-9997-4478"]},"institutions":[{"id":"https://openalex.org/I2802884590","display_name":"Civitan International","ror":"https://ror.org/03a300k41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I2802884590"]},{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrea G. Marshall","raw_affiliation_strings":["Department of Neurobiology, Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurobiology, Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America","institution_ids":["https://openalex.org/I2802884590","https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Jennifer A. Watson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802884590","display_name":"Civitan International","ror":"https://ror.org/03a300k41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I2802884590"]},{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jennifer A. Watson","raw_affiliation_strings":["Department of Neurobiology, Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurobiology, Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America","institution_ids":["https://openalex.org/I2802884590","https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007099629","display_name":"Jada J. Hallengren","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802884590","display_name":"Civitan International","ror":"https://ror.org/03a300k41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I2802884590"]},{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jada J. Hallengren","raw_affiliation_strings":["Department of Neurobiology, Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurobiology, Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America","institution_ids":["https://openalex.org/I2802884590","https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066243490","display_name":"Brandon J. Walters","orcid":"https://orcid.org/0000-0002-8073-6573","observed_orcids":["https://orcid.org/0000-0002-8073-6573"]},"institutions":[{"id":"https://openalex.org/I2802884590","display_name":"Civitan International","ror":"https://ror.org/03a300k41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I2802884590"]},{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Brandon J. Walters","raw_affiliation_strings":["Department of Neurobiology, Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurobiology, Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America","institution_ids":["https://openalex.org/I2802884590","https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010320327","display_name":"Lynn E. Dobrunz","orcid":"https://orcid.org/0000-0002-3317-554X","observed_orcids":["https://orcid.org/0000-0002-3317-554X"]},"institutions":[{"id":"https://openalex.org/I2802884590","display_name":"Civitan International","ror":"https://ror.org/03a300k41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I2802884590"]},{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lynn E. Dobrunz","raw_affiliation_strings":["Department of Neurobiology, Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurobiology, Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America","institution_ids":["https://openalex.org/I2802884590","https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060406568","display_name":"Ludwig Francillon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802884590","display_name":"Civitan International","ror":"https://ror.org/03a300k41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I2802884590"]},{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ludwig Francillon","raw_affiliation_strings":["Department of Neurobiology, Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurobiology, Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America","institution_ids":["https://openalex.org/I2802884590","https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101953892","display_name":"Julie A. Wilson","orcid":"https://orcid.org/0000-0002-4127-6316","observed_orcids":["https://orcid.org/0000-0002-4127-6316"]},"institutions":[{"id":"https://openalex.org/I2802884590","display_name":"Civitan International","ror":"https://ror.org/03a300k41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I2802884590"]},{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Julie A. Wilson","raw_affiliation_strings":["Department of Neurobiology, Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurobiology, Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America","institution_ids":["https://openalex.org/I2802884590","https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041900573","display_name":"Scott E. Phillips","orcid":"https://orcid.org/0000-0002-5451-0984","observed_orcids":["https://orcid.org/0000-0002-5451-0984"]},"institutions":[{"id":"https://openalex.org/I2802884590","display_name":"Civitan International","ror":"https://ror.org/03a300k41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I2802884590"]},{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Scott E. Phillips","raw_affiliation_strings":["Department of Neurobiology, Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurobiology, Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America","institution_ids":["https://openalex.org/I2802884590","https://openalex.org/I32389192"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5027601994","display_name":"Scott M. Wilson","orcid":"https://orcid.org/0000-0001-9376-9430","observed_orcids":["https://orcid.org/0000-0001-9376-9430"]},"institutions":[{"id":"https://openalex.org/I2802884590","display_name":"Civitan International","ror":"https://ror.org/03a300k41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I2802884590"]},{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Scott M. Wilson","raw_affiliation_strings":["Department of Neurobiology, Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurobiology, Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America","institution_ids":["https://openalex.org/I2802884590","https://openalex.org/I32389192"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5027601994"],"corresponding_institution_ids":["https://openalex.org/I2802884590","https://openalex.org/I32389192"],"apc_list":{"value":2382,"currency":"USD","value_usd":2382},"apc_paid":{"value":2382,"currency":"USD","value_usd":2382},"fwci":0.7462,"has_fulltext":true,"cited_by_count":18,"citation_normalized_percentile":{"value":0.70039313,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"8","issue":"12","first_page":"e84042","last_page":"e84042"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11041","display_name":"Ubiquitin and proteasome pathways","score":0.86080002784729,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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"}},"topics":[{"id":"https://openalex.org/T11041","display_name":"Ubiquitin and proteasome pathways","score":0.86080002784729,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.053700000047683716,"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/T10441","display_name":"Muscle Physiology and Disorders","score":0.03350000083446503,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/usp14","display_name":"USP14","score":0.949999988079071},{"id":"https://openalex.org/keywords/enu-mutagenesis","display_name":"ENU mutagenesis","score":0.7580000162124634},{"id":"https://openalex.org/keywords/genetic-background-effects","display_name":"genetic background effects","score":0.6399999856948853},{"id":"https://openalex.org/keywords/aberrant-mrna-splicing","display_name":"aberrant mRNA splicing","score":0.7929999828338623},{"id":"https://openalex.org/keywords/neuromuscular-junction","display_name":"neuromuscular junction","score":0.9129999876022339},{"id":"https://openalex.org/keywords/paired-pulse-facilitation","display_name":"paired-pulse facilitation","score":0.8840000033378601}],"concepts":[{"id":"https://openalex.org/C25602115","wikidata":"https://www.wikidata.org/wiki/Q407111","display_name":"Ubiquitin","level":3,"score":0.6996353268623352},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5893902778625488},{"id":"https://openalex.org/C2777240379","wikidata":"https://www.wikidata.org/wiki/Q776995","display_name":"Neuromuscular junction","level":2,"score":0.5666778683662415},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.49484318494796753},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.46374377608299255},{"id":"https://openalex.org/C134459356","wikidata":"https://www.wikidata.org/wiki/Q4274835","display_name":"Ubiquitin ligase","level":4,"score":0.41725990176200867},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3673008680343628},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.1807214915752411},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.14199692010879517}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001369","descriptor_name":"Axons","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004195","descriptor_name":"Disease Models, Animal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006624","descriptor_name":"Hippocampus","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006706","descriptor_name":"Homeostasis","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":"D009045","descriptor_name":"Motor Endplate","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009045","descriptor_name":"Motor Endplate","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009468","descriptor_name":"Neuromuscular Diseases","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D009468","descriptor_name":"Neuromuscular Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009468","descriptor_name":"Neuromuscular Diseases","qualifier_ui":"Q000401","qualifier_name":"mortality","is_major_topic":false},{"descriptor_ui":"D009469","descriptor_name":"Neuromuscular Junction","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009469","descriptor_name":"Neuromuscular Junction","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009473","descriptor_name":"Neuronal Plasticity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011689","descriptor_name":"Purkinje Cells","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":false},{"descriptor_ui":"D011689","descriptor_name":"Purkinje Cells","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D011950","descriptor_name":"Receptors, Cholinergic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011950","descriptor_name":"Receptors, Cholinergic","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012333","descriptor_name":"RNA, Messenger","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D012720","descriptor_name":"Severity of Illness Index","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013569","descriptor_name":"Synapses","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D015870","descriptor_name":"Gene Expression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017398","descriptor_name":"Alternative Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018485","descriptor_name":"Muscle Fibers, Skeletal","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018485","descriptor_name":"Muscle Fibers, Skeletal","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D021122","descriptor_name":"Protein Subunits","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D025801","descriptor_name":"Ubiquitin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D025801","descriptor_name":"Ubiquitin","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D043222","descriptor_name":"Ubiquitin Thiolesterase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D043222","descriptor_name":"Ubiquitin Thiolesterase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1371/journal.pone.0084042","doi":"https://doi.org/10.1371/journal.pone.0084042","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0084042","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0084042&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS ONE","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:2851626","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3865287","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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3865287","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3865287","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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS One","raw_type":"Text"},{"id":"pmid:24358326","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24358326","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":"PloS one","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:166a9129c97c40c2af56922d4c06d2da","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/166a9129c97c40c2af56922d4c06d2da","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":"PLoS ONE, Vol 8, Iss 12, p e84042 (2013)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1371/journal.pone.0084042","doi":"https://doi.org/10.1371/journal.pone.0084042","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0084042","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0084042&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS ONE","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.6240000128746033}],"study_designs":[],"awards":[{"id":"https://openalex.org/G3615707882","display_name":"Training Program in Cell, Molecular, and Developmental Biology","funder_award_id":"T32GM008111","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G4338422434","display_name":null,"funder_award_id":"NS-074456","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G4339338514","display_name":"Enhancement of Proteasome Activity for the Treatment of Neurological Disorders","funder_award_id":"R21NS074456","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G6353318340","display_name":null,"funder_award_id":"NS047533","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G7820584853","display_name":"Rheumatic Diseases Core Centers (P30)","funder_award_id":"P30AR048311","funder_id":"https://openalex.org/F4320337362","funder_display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases"},{"id":"https://openalex.org/G7883576144","display_name":"The role of Usp 14 in regulating neuronal function","funder_award_id":"R01NS047533","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"},{"id":"https://openalex.org/F4320337362","display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","ror":"https://ror.org/006zn3t30"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2019430733.pdf","grobid_xml":"https://content.openalex.org/works/W2019430733.grobid-xml"},"referenced_works_count":42,"referenced_works":["https://openalex.org/W1540597609","https://openalex.org/W1618846043","https://openalex.org/W1941310785","https://openalex.org/W1952783702","https://openalex.org/W1964516196","https://openalex.org/W1968055671","https://openalex.org/W1972548761","https://openalex.org/W1975794476","https://openalex.org/W1978885930","https://openalex.org/W1986945403","https://openalex.org/W1988325583","https://openalex.org/W1995608059","https://openalex.org/W1997763139","https://openalex.org/W2002156115","https://openalex.org/W2011369317","https://openalex.org/W2012296420","https://openalex.org/W2012377009","https://openalex.org/W2015060437","https://openalex.org/W2018228226","https://openalex.org/W2031052069","https://openalex.org/W2033696318","https://openalex.org/W2042514398","https://openalex.org/W2047311424","https://openalex.org/W2050163135","https://openalex.org/W2060222742","https://openalex.org/W2068292550","https://openalex.org/W2072981065","https://openalex.org/W2073103567","https://openalex.org/W2078072437","https://openalex.org/W2096056184","https://openalex.org/W2102075074","https://openalex.org/W2103805605","https://openalex.org/W2106814023","https://openalex.org/W2109944137","https://openalex.org/W2123851158","https://openalex.org/W2126467039","https://openalex.org/W2131232694","https://openalex.org/W2138247439","https://openalex.org/W2139364069","https://openalex.org/W2141402394","https://openalex.org/W2160361654","https://openalex.org/W2169393803"],"related_works":["https://openalex.org/W1970786284","https://openalex.org/W1968055671","https://openalex.org/W2141402394","https://openalex.org/W2107475738","https://openalex.org/W2078072437","https://openalex.org/W7100954142","https://openalex.org/W2060222742","https://openalex.org/W7100856208","https://openalex.org/W7096726064","https://openalex.org/W2047311424"],"abstract_inverted_index":{"In":[0],"this":[1],"study,":[2],"we":[3],"identified":[4],"and":[5,61,75,94,122,136,181],"characterized":[6],"an":[7],"N-ethyl-N-nitrosourea":[8],"(ENU)":[9],"induced":[10],"mutation":[11,23],"in":[12,31,35,44,50,141,172],"Usp14":[13,28],"(nmf375)":[14],"that":[15,40,146,157],"leads":[16],"to":[17,177],"adult-onset":[18],"neurological":[19],"disease.":[20],"The":[21,144],"nmf375":[22,93,99,116],"causes":[24],"aberrant":[25],"splicing":[26],"of":[27,42,73,82,87,113,133,160,167],"mRNA,":[29],"resulting":[30],"a":[32,127],"95%":[33],"reduction":[34],"USP14.":[36],"We":[37],"previously":[38],"showed":[39],"loss":[41,86],"USP14":[43,88,188],"ataxia":[45],"(ax":[46],"(J))":[47],"mice":[48,100],"results":[49],"reduced":[51],"ubiquitin":[52,120,134,154,169,179],"levels,":[53],"motor":[54,123,147],"endplate":[55,124,148],"disease,":[56,125],"Purkinje":[57],"cell":[58],"axonal":[59],"dystrophy":[60],"decreased":[62],"hippocampal":[63],"paired":[64],"pulse":[65],"facilitation":[66],"(PPF)":[67],"during":[68],"the":[69,85,92,98,115,158,164,184],"first":[70],"4-6":[71],"weeks":[72,112],"life,":[74],"early":[76],"postnatal":[77],"lethality":[78],"by":[79,110,187],"two":[80],"months":[81],"age.":[83],"Although":[84],"is":[89],"comparable":[90],"between":[91],"ax":[95,105],"(J)":[96,106],"mice,":[97],"did":[101],"not":[102],"exhibit":[103],"these":[104],"developmental":[107],"abnormalities.":[108],"However,":[109],"12":[111],"age":[114],"mutants":[117],"present":[118],"with":[119],"depletion":[121,155],"indicating":[126],"continual":[128],"role":[129],"for":[130],"USP14-mediated":[131],"regulation":[132],"pools":[135],"neuromuscular":[137],"junction":[138],"(NMJ)":[139],"structure":[140,162],"adult":[142],"mice.":[143],"observation":[145],"disease":[149],"was":[150],"only":[151],"seen":[152],"after":[153],"suggests":[156],"preservation":[159],"NMJ":[161],"requires":[163],"stable":[165],"maintenance":[166],"synaptic":[168],"pools.":[170],"Differences":[171],"genetic":[173],"background":[174],"were":[175],"shown":[176],"affect":[178],"expression":[180],"dramatically":[182],"alter":[183],"phenotypes":[185],"caused":[186],"deficiency.":[189]},"counts_by_year":[{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":2},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}