FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1987409462> ?p ?o ?g. }

• W1987409462 endingPage "52" @default.
• W1987409462 startingPage "46" @default.
• W1987409462 abstract "Most of the mutations described in the GBA gene as responsible for Gaucher disease are missense mutations. Nevertheless, other alterations, including nonsense and frameshift mutations, have been reported. These mutations generate premature termination codons (PTC) that could trigger the degradation of mRNA through a mechanism known as nonsense-mediated decay (NMD). It has been established that NMD requires the presence of at least one intron downstream of the PTC, and that this PTC should be at least 50-55 nucleotides upstream of the 3'-most exon-exon junction. In this study, we analyse four GBA truncating mutations - c.108G > A (W(-4)X; HGVS recommended nomenclature: p.W36X), c.886C > T (R257X; HGVS: p.R296X), c.1098_1099insA and c.1451_1452delAC - found in Spanish Gaucher disease patients in order to determine whether they undergo mRNA decay and, if so, whether this occurs via the NMD pathway. RT-PCR showed a clear reduction of RNA for three of the alleles: W(-4)X, R257X and c.1098_1099insA. After treatment with cycloheximide (CHX), a known inhibitor of both protein synthesis and NMD, two of the mutant alleles, R257X and c.1098_1099insA, showed a partial recovery of the amount of mRNA. The third mutation, W(-4)X, did not show any significant CHX-induced recovery, while allele c.1451_1452delAC did not show mRNA decay at all. Real-time PCR confirmed these results and allowed the decay and recovery to be quantified. Finally, the protein truncation test was performed to detect the corresponding proteins. Expected products for alleles R257X, c.1451_1452delAC and c.1098_1099insA, but not for W(-4)X, were observed." @default.
• W1987409462 created "2016-06-24" @default.
• W1987409462 creator A5009785260 @default.
• W1987409462 creator A5033638665 @default.
• W1987409462 creator A5036024196 @default.
• W1987409462 creator A5059191087 @default.
• W1987409462 date "2006-01-01" @default.
• W1987409462 modified "2023-09-25" @default.
• W1987409462 title "Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients" @default.
• W1987409462 cites W1975190412 @default.
• W1987409462 cites W1975304302 @default.
• W1987409462 cites W1993771442 @default.
• W1987409462 cites W1999406227 @default.
• W1987409462 cites W2009757848 @default.
• W1987409462 cites W2024039709 @default.
• W1987409462 cites W2027653128 @default.
• W1987409462 cites W2027724313 @default.
• W1987409462 cites W2040422211 @default.
• W1987409462 cites W2060247112 @default.
• W1987409462 cites W2064036807 @default.
• W1987409462 cites W2076978982 @default.
• W1987409462 cites W2078579023 @default.
• W1987409462 cites W2086160653 @default.
• W1987409462 cites W2103274083 @default.
• W1987409462 cites W2104521909 @default.
• W1987409462 cites W2109276727 @default.
• W1987409462 cites W2112001822 @default.
• W1987409462 cites W2116654909 @default.
• W1987409462 cites W2134288649 @default.
• W1987409462 cites W2156924110 @default.
• W1987409462 cites W2159182127 @default.
• W1987409462 cites W4242521331 @default.
• W1987409462 cites W4248060312 @default.
• W1987409462 cites W4252969769 @default.
• W1987409462 cites W4296022821 @default.
• W1987409462 cites W4301203760 @default.
• W1987409462 doi "https://doi.org/10.1016/j.bcmd.2005.10.002" @default.
• W1987409462 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16326120" @default.
• W1987409462 hasPublicationYear "2006" @default.
• W1987409462 type Work @default.
• W1987409462 sameAs 1987409462 @default.
• W1987409462 citedByCount "8" @default.
• W1987409462 countsByYear W19874094622012 @default.
• W1987409462 countsByYear W19874094622014 @default.
• W1987409462 countsByYear W19874094622018 @default.
• W1987409462 crossrefType "journal-article" @default.
• W1987409462 hasAuthorship W1987409462A5009785260 @default.
• W1987409462 hasAuthorship W1987409462A5033638665 @default.
• W1987409462 hasAuthorship W1987409462A5036024196 @default.
• W1987409462 hasAuthorship W1987409462A5059191087 @default.
• W1987409462 hasConcept C104317684 @default.
• W1987409462 hasConcept C105580179 @default.
• W1987409462 hasConcept C143065580 @default.
• W1987409462 hasConcept C153911025 @default.
• W1987409462 hasConcept C180754005 @default.
• W1987409462 hasConcept C29906990 @default.
• W1987409462 hasConcept C36823959 @default.
• W1987409462 hasConcept C501734568 @default.
• W1987409462 hasConcept C54355233 @default.
• W1987409462 hasConcept C54458228 @default.
• W1987409462 hasConcept C67705224 @default.
• W1987409462 hasConcept C70219777 @default.
• W1987409462 hasConcept C75563809 @default.
• W1987409462 hasConcept C86803240 @default.
• W1987409462 hasConcept C94671646 @default.
• W1987409462 hasConcept C96777560 @default.
• W1987409462 hasConceptScore W1987409462C104317684 @default.
• W1987409462 hasConceptScore W1987409462C105580179 @default.
• W1987409462 hasConceptScore W1987409462C143065580 @default.
• W1987409462 hasConceptScore W1987409462C153911025 @default.
• W1987409462 hasConceptScore W1987409462C180754005 @default.
• W1987409462 hasConceptScore W1987409462C29906990 @default.
• W1987409462 hasConceptScore W1987409462C36823959 @default.
• W1987409462 hasConceptScore W1987409462C501734568 @default.
• W1987409462 hasConceptScore W1987409462C54355233 @default.
• W1987409462 hasConceptScore W1987409462C54458228 @default.
• W1987409462 hasConceptScore W1987409462C67705224 @default.
• W1987409462 hasConceptScore W1987409462C70219777 @default.
• W1987409462 hasConceptScore W1987409462C75563809 @default.
• W1987409462 hasConceptScore W1987409462C86803240 @default.
• W1987409462 hasConceptScore W1987409462C94671646 @default.
• W1987409462 hasConceptScore W1987409462C96777560 @default.
• W1987409462 hasIssue "1" @default.
• W1987409462 hasLocation W19874094621 @default.
• W1987409462 hasLocation W19874094622 @default.
• W1987409462 hasOpenAccess W1987409462 @default.
• W1987409462 hasPrimaryLocation W19874094621 @default.
• W1987409462 hasRelatedWork W1540914548 @default.
• W1987409462 hasRelatedWork W179064230 @default.
• W1987409462 hasRelatedWork W1982070672 @default.
• W1987409462 hasRelatedWork W1994235408 @default.
• W1987409462 hasRelatedWork W2074478661 @default.
• W1987409462 hasRelatedWork W2081165832 @default.
• W1987409462 hasRelatedWork W2125961287 @default.
• W1987409462 hasRelatedWork W2594801 @default.
• W1987409462 hasRelatedWork W2885196233 @default.
• W1987409462 hasRelatedWork W306848151 @default.
• W1987409462 hasVolume "36" @default.

• next