Matches in SemOpenAlex for { <https://semopenalex.org/work/W3117317754> ?p ?o ?g. }
- W3117317754 abstract "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." @default.
- W3117317754 created "2021-01-05" @default.
- W3117317754 creator A5002962377 @default.
- W3117317754 creator A5007664834 @default.
- W3117317754 creator A5016039962 @default.
- W3117317754 creator A5019324075 @default.
- W3117317754 creator A5026423646 @default.
- W3117317754 creator A5051849097 @default.
- W3117317754 creator A5089932718 @default.
- W3117317754 date "2021-01-01" @default.
- W3117317754 modified "2023-10-17" @default.
- W3117317754 title "Fanconi anemia A protein participates in nucleolar homeostasis maintenance and ribosome biogenesis" @default.
- W3117317754 cites W1127055839 @default.
- W3117317754 cites W1490499295 @default.
- W3117317754 cites W1596008313 @default.
- W3117317754 cites W1914649288 @default.
- W3117317754 cites W1970743655 @default.
- W3117317754 cites W1972164085 @default.
- W3117317754 cites W1972778166 @default.
- W3117317754 cites W1980052833 @default.
- W3117317754 cites W1986947222 @default.
- W3117317754 cites W1986955775 @default.
- W3117317754 cites W1995178146 @default.
- W3117317754 cites W1998706071 @default.
- W3117317754 cites W1998984090 @default.
- W3117317754 cites W1999962568 @default.
- W3117317754 cites W2021124325 @default.
- W3117317754 cites W2029737881 @default.
- W3117317754 cites W2037513168 @default.
- W3117317754 cites W2040597727 @default.
- W3117317754 cites W2047110825 @default.
- W3117317754 cites W2051542850 @default.
- W3117317754 cites W2058831361 @default.
- W3117317754 cites W2059774715 @default.
- W3117317754 cites W2068078946 @default.
- W3117317754 cites W2069515061 @default.
- W3117317754 cites W2074529613 @default.
- W3117317754 cites W2078945945 @default.
- W3117317754 cites W2085919669 @default.
- W3117317754 cites W2086157203 @default.
- W3117317754 cites W2087505934 @default.
- W3117317754 cites W2091888464 @default.
- W3117317754 cites W2093232223 @default.
- W3117317754 cites W2095554912 @default.
- W3117317754 cites W2103144236 @default.
- W3117317754 cites W2106627064 @default.
- W3117317754 cites W2134967635 @default.
- W3117317754 cites W2136817553 @default.
- W3117317754 cites W2153025234 @default.
- W3117317754 cites W2168964269 @default.
- W3117317754 cites W2170515966 @default.
- W3117317754 cites W2192508404 @default.
- W3117317754 cites W2207325914 @default.
- W3117317754 cites W2217402320 @default.
- W3117317754 cites W2295612804 @default.
- W3117317754 cites W2304766253 @default.
- W3117317754 cites W2340421620 @default.
- W3117317754 cites W2346731093 @default.
- W3117317754 cites W2406185552 @default.
- W3117317754 cites W2467079299 @default.
- W3117317754 cites W2513764101 @default.
- W3117317754 cites W2529733312 @default.
- W3117317754 cites W2561964990 @default.
- W3117317754 cites W2564798923 @default.
- W3117317754 cites W2590501509 @default.
- W3117317754 cites W2619631360 @default.
- W3117317754 cites W2727858063 @default.
- W3117317754 cites W2761488822 @default.
- W3117317754 cites W2809263016 @default.
- W3117317754 cites W2810812994 @default.
- W3117317754 cites W2883861546 @default.
- W3117317754 cites W2909481675 @default.
- W3117317754 cites W2913727950 @default.
- W3117317754 cites W2922419769 @default.
- W3117317754 cites W2947653560 @default.
- W3117317754 cites W2997124786 @default.
- W3117317754 doi "https://doi.org/10.1126/sciadv.abb5414" @default.
- W3117317754 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7775781" @default.
- W3117317754 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33523834" @default.
- W3117317754 hasPublicationYear "2021" @default.
- W3117317754 type Work @default.
- W3117317754 sameAs 3117317754 @default.
- W3117317754 citedByCount "17" @default.
- W3117317754 countsByYear W31173177542021 @default.
- W3117317754 countsByYear W31173177542022 @default.
- W3117317754 countsByYear W31173177542023 @default.
- W3117317754 crossrefType "journal-article" @default.
- W3117317754 hasAuthorship W3117317754A5002962377 @default.
- W3117317754 hasAuthorship W3117317754A5007664834 @default.
- W3117317754 hasAuthorship W3117317754A5016039962 @default.
- W3117317754 hasAuthorship W3117317754A5019324075 @default.
- W3117317754 hasAuthorship W3117317754A5026423646 @default.
- W3117317754 hasAuthorship W3117317754A5051849097 @default.
- W3117317754 hasAuthorship W3117317754A5089932718 @default.
- W3117317754 hasBestOaLocation W31173177541 @default.
- W3117317754 hasConcept C104317684 @default.
- W3117317754 hasConcept C131934819 @default.
- W3117317754 hasConcept C134935766 @default.
- W3117317754 hasConcept C143425029 @default.
- W3117317754 hasConcept C177336024 @default.