| http://purl.uniprot.org/citations/33523834 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/33523834 | http://www.w3.org/2000/01/rdf-schema#comment | "Fanconi anemia (FA), the most common inherited bone marrow failure and leukemia predisposition syndrome, is generally attributed to alterations in DNA damage responses due to the loss of function of the DNA repair and replication rescue activities of the FANC pathway. Here, we report that FANCA deficiency, whose inactivation has been identified in two-thirds of FA patients, is associated with nucleolar homeostasis loss, mislocalization of key nucleolar proteins, including nucleolin (NCL) and nucleophosmin 1 (NPM1), as well as alterations in ribosome biogenesis and protein synthesis. FANCA coimmunoprecipitates with NCL and NPM1 in a FANCcore complex-independent manner and, unique among the FANCcore complex proteins, associates with ribosomal subunits, influencing the stoichiometry of the translational machineries. In conclusion, we have identified unexpected nucleolar and translational consequences specifically associated with FANCA deficiency that appears to be involved in both DNA damage and nucleolar stress responses, challenging current hypothesis on FA physiopathology."xsd:string |
| http://purl.uniprot.org/citations/33523834 | http://purl.org/dc/terms/identifier | "doi:10.1126/sciadv.abb5414"xsd:string |
| http://purl.uniprot.org/citations/33523834 | http://purl.uniprot.org/core/author | "Diaz J.J."xsd:string |
| http://purl.uniprot.org/citations/33523834 | http://purl.uniprot.org/core/author | "Rosselli F."xsd:string |
| http://purl.uniprot.org/citations/33523834 | http://purl.uniprot.org/core/author | "Apcher S."xsd:string |
| http://purl.uniprot.org/citations/33523834 | http://purl.uniprot.org/core/author | "Gueiderikh A."xsd:string |
| http://purl.uniprot.org/citations/33523834 | http://purl.uniprot.org/core/author | "Maczkowiak-Chartois F."xsd:string |
| http://purl.uniprot.org/citations/33523834 | http://purl.uniprot.org/core/author | "Rouvet G."xsd:string |
| http://purl.uniprot.org/citations/33523834 | http://purl.uniprot.org/core/author | "Souquere-Besse S."xsd:string |
| http://purl.uniprot.org/citations/33523834 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/33523834 | http://purl.uniprot.org/core/name | "Sci Adv"xsd:string |
| http://purl.uniprot.org/citations/33523834 | http://purl.uniprot.org/core/pages | "eabb5414"xsd:string |
| http://purl.uniprot.org/citations/33523834 | http://purl.uniprot.org/core/title | "Fanconi anemia A protein participates in nucleolar homeostasis maintenance and ribosome biogenesis."xsd:string |
| http://purl.uniprot.org/citations/33523834 | http://purl.uniprot.org/core/volume | "7"xsd:string |
| http://purl.uniprot.org/citations/33523834 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/33523834 |
| http://purl.uniprot.org/citations/33523834 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/33523834 |
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