FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2780023341> ?p ?o ?g. }

• W2780023341 endingPage "536" @default.
• W2780023341 startingPage "527" @default.
• W2780023341 abstract "Shwachman-Diamond syndrome (SDS) is a rare inherited recessive disease mainly caused by mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene, which encodes for the homonymous protein SBDS, whose function still remains to be fully established. SDS affects several organs causing bone marrow failure, exocrine pancreatic insufficiency, skeletal malformations, and cognitive disorders. About 15% of SDS patients develop myelodysplastic syndrome (MDS) and are at higher risk of developing acute myeloid leukemia (AML). Deficiency in SBDS expression has been associated with increased apoptosis and lack of myeloid differentiation in bone marrow hematopoietic progenitors. Importantly, most SDS patients carry nonsense mutations in SBDS. Since ataluren is a well-characterized small molecule inhibitor that can suppress nonsense mutations, here, we have assessed the efficacy of this drug in restoring SBDS expression in hematopoietic cells obtained from a cohort of SDS patients. Remarkably, we show that ataluren treatment readily restores SBDS protein expression in different cell types, particularly bone marrow stem cells. Furthermore, ataluren promotes myeloid differentiation in hematopoietic progenitors, reduces apoptotic rate in primary PBMCs, and brings mammalian target of rapamycin phosphorylation levels back to normal in both lymphoblasts and bone marrow mesenchymal stromal cells (BM-MSCs). Since a specific therapy against SDS is currently lacking, these results provide the rationale for ataluren repurposing clinical trials." @default.
• W2780023341 created "2018-01-05" @default.
• W2780023341 creator A5008389661 @default.
• W2780023341 creator A5010914503 @default.
• W2780023341 creator A5020861863 @default.
• W2780023341 creator A5021123711 @default.
• W2780023341 creator A5022108495 @default.
• W2780023341 creator A5024886659 @default.
• W2780023341 creator A5032479743 @default.
• W2780023341 creator A5037721874 @default.
• W2780023341 creator A5051520180 @default.
• W2780023341 creator A5073521352 @default.
• W2780023341 creator A5079593455 @default.
• W2780023341 creator A5091256512 @default.
• W2780023341 date "2018-02-09" @default.
• W2780023341 modified "2023-10-14" @default.
• W2780023341 title "Ataluren‐driven restoration of Shwachman‐Bodian‐Diamond syndrome protein function in Shwachman‐Diamond syndrome bone marrow cells" @default.
• W2780023341 cites W1967490336 @default.
• W2780023341 cites W1969123029 @default.
• W2780023341 cites W1972537007 @default.
• W2780023341 cites W1974122431 @default.
• W2780023341 cites W1974556145 @default.
• W2780023341 cites W1992647001 @default.
• W2780023341 cites W1992989994 @default.
• W2780023341 cites W2003979849 @default.
• W2780023341 cites W2009644344 @default.
• W2780023341 cites W2016869969 @default.
• W2780023341 cites W20173471 @default.
• W2780023341 cites W2035041709 @default.
• W2780023341 cites W2040578546 @default.
• W2780023341 cites W2057916164 @default.
• W2780023341 cites W2062646606 @default.
• W2780023341 cites W2074477570 @default.
• W2780023341 cites W2079069326 @default.
• W2780023341 cites W2099252894 @default.
• W2780023341 cites W2114534925 @default.
• W2780023341 cites W2121166051 @default.
• W2780023341 cites W2134969835 @default.
• W2780023341 cites W2145390912 @default.
• W2780023341 cites W2166601881 @default.
• W2780023341 cites W2181099113 @default.
• W2780023341 cites W2195579567 @default.
• W2780023341 cites W2461520239 @default.
• W2780023341 cites W2522523071 @default.
• W2780023341 cites W2528751872 @default.
• W2780023341 cites W2568406639 @default.
• W2780023341 cites W2606869403 @default.
• W2780023341 cites W4294214970 @default.
• W2780023341 doi "https://doi.org/10.1002/ajh.25025" @default.
• W2780023341 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29285795" @default.
• W2780023341 hasPublicationYear "2018" @default.
• W2780023341 type Work @default.
• W2780023341 sameAs 2780023341 @default.
• W2780023341 citedByCount "12" @default.
• W2780023341 countsByYear W27800233412018 @default.
• W2780023341 countsByYear W27800233412019 @default.
• W2780023341 countsByYear W27800233412020 @default.
• W2780023341 countsByYear W27800233412021 @default.
• W2780023341 countsByYear W27800233412022 @default.
• W2780023341 countsByYear W27800233412023 @default.
• W2780023341 crossrefType "journal-article" @default.
• W2780023341 hasAuthorship W2780023341A5008389661 @default.
• W2780023341 hasAuthorship W2780023341A5010914503 @default.
• W2780023341 hasAuthorship W2780023341A5020861863 @default.
• W2780023341 hasAuthorship W2780023341A5021123711 @default.
• W2780023341 hasAuthorship W2780023341A5022108495 @default.
• W2780023341 hasAuthorship W2780023341A5024886659 @default.
• W2780023341 hasAuthorship W2780023341A5032479743 @default.
• W2780023341 hasAuthorship W2780023341A5037721874 @default.
• W2780023341 hasAuthorship W2780023341A5051520180 @default.
• W2780023341 hasAuthorship W2780023341A5073521352 @default.
• W2780023341 hasAuthorship W2780023341A5079593455 @default.
• W2780023341 hasAuthorship W2780023341A5091256512 @default.
• W2780023341 hasBestOaLocation W27800233411 @default.
• W2780023341 hasConcept C109159458 @default.
• W2780023341 hasConcept C126322002 @default.
• W2780023341 hasConcept C201750760 @default.
• W2780023341 hasConcept C203014093 @default.
• W2780023341 hasConcept C2778461978 @default.
• W2780023341 hasConcept C2778729363 @default.
• W2780023341 hasConcept C2779282312 @default.
• W2780023341 hasConcept C2780007613 @default.
• W2780023341 hasConcept C2780525284 @default.
• W2780023341 hasConcept C28328180 @default.
• W2780023341 hasConcept C502942594 @default.
• W2780023341 hasConcept C54355233 @default.
• W2780023341 hasConcept C71924100 @default.
• W2780023341 hasConcept C86803240 @default.
• W2780023341 hasConceptScore W2780023341C109159458 @default.
• W2780023341 hasConceptScore W2780023341C126322002 @default.
• W2780023341 hasConceptScore W2780023341C201750760 @default.
• W2780023341 hasConceptScore W2780023341C203014093 @default.
• W2780023341 hasConceptScore W2780023341C2778461978 @default.
• W2780023341 hasConceptScore W2780023341C2778729363 @default.
• W2780023341 hasConceptScore W2780023341C2779282312 @default.
• W2780023341 hasConceptScore W2780023341C2780007613 @default.
• W2780023341 hasConceptScore W2780023341C2780525284 @default.
• W2780023341 hasConceptScore W2780023341C28328180 @default.

• next