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http://purl.uniprot.org/citations/29497044http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/29497044http://www.w3.org/2000/01/rdf-schema#comment"Familial dysautonomia (FD) results from mutation in IKBKAP/ELP1, a gene encoding the scaffolding protein for the Elongator complex. This highly conserved complex is required for the translation of codon-biased genes in lower organisms. Here we investigate whether Elongator serves a similar function in mammalian peripheral neurons, the population devastated in FD. Using codon-biased eGFP sensors, and multiplexing of codon usage with transcriptome and proteome analyses of over 6,000 genes, we identify two categories of genes, as well as specific gene identities that depend on Elongator for normal expression. Moreover, we show that multiple genes in the DNA damage repair pathway are codon-biased, and that with Elongator loss, their misregulation is correlated with elevated levels of DNA damage. These findings link Elongator's function in the translation of codon-biased genes with both the developmental and neurodegenerative phenotypes of FD, and also clarify the increased risk of cancer associated with the disease."xsd:string
http://purl.uniprot.org/citations/29497044http://purl.org/dc/terms/identifier"doi:10.1038/s41467-018-03221-z"xsd:string
http://purl.uniprot.org/citations/29497044http://purl.uniprot.org/core/author"Zhang Y."xsd:string
http://purl.uniprot.org/citations/29497044http://purl.uniprot.org/core/author"Becker K.G."xsd:string
http://purl.uniprot.org/citations/29497044http://purl.uniprot.org/core/author"George L."xsd:string
http://purl.uniprot.org/citations/29497044http://purl.uniprot.org/core/author"Walters J."xsd:string
http://purl.uniprot.org/citations/29497044http://purl.uniprot.org/core/author"Lehrmann E."xsd:string
http://purl.uniprot.org/citations/29497044http://purl.uniprot.org/core/author"Chaverra M."xsd:string
http://purl.uniprot.org/citations/29497044http://purl.uniprot.org/core/author"Lefcort F."xsd:string
http://purl.uniprot.org/citations/29497044http://purl.uniprot.org/core/author"Goffena J."xsd:string
http://purl.uniprot.org/citations/29497044http://purl.uniprot.org/core/author"Buksch R."xsd:string
http://purl.uniprot.org/citations/29497044http://purl.uniprot.org/core/author"Felig J."xsd:string
http://purl.uniprot.org/citations/29497044http://purl.uniprot.org/core/date"2018"xsd:gYear
http://purl.uniprot.org/citations/29497044http://purl.uniprot.org/core/name"Nat Commun"xsd:string
http://purl.uniprot.org/citations/29497044http://purl.uniprot.org/core/pages"889"xsd:string
http://purl.uniprot.org/citations/29497044http://purl.uniprot.org/core/title"Elongator and codon bias regulate protein levels in mammalian peripheral neurons."xsd:string
http://purl.uniprot.org/citations/29497044http://purl.uniprot.org/core/volume"9"xsd:string
http://purl.uniprot.org/citations/29497044http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/29497044
http://purl.uniprot.org/citations/29497044http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/29497044
http://purl.uniprot.org/uniprot/#_A0A0A0MQJ0-mappedCitation-29497044http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/29497044
http://purl.uniprot.org/uniprot/#_E0CZC0-mappedCitation-29497044http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/29497044
http://purl.uniprot.org/uniprot/#_A0A0J9YVI7-mappedCitation-29497044http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/29497044
http://purl.uniprot.org/uniprot/#_A2AKX3-mappedCitation-29497044http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/29497044
http://purl.uniprot.org/uniprot/#_B2RVP5-mappedCitation-29497044http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/29497044