FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2912797450> ?p ?o ?g. }

• W2912797450 endingPage "887" @default.
• W2912797450 startingPage "879" @default.
• W2912797450 abstract "Wilson disease (WD) is an autosomal recessive disease of copper excess due to pathogenic variants in the ATP7B gene coding for a copper-transporting ATPase. We present a 5-year-old girl with the homozygous frame shift variant NM_000053.3: c.19_20del in exon 1 of ATP7B (consecutive exon numbering with c.1 as first nucleotide of exon 1), detected by whole-exome sequencing as a secondary finding. The variant leads to a premature termination codon in exon 2. The girl exhibited no WD symptoms and no abnormalities in liver biopsy. ATP7B liver mRNA expression was comparable to healthy controls suggesting that nonsense-mediated mRNA decay (NMD) could be bypassed by the mechanism of translation reinitiation. To verify this hypothesis, a CMV-driven ATP7B minigene (pcDNA3) was equipped with the authentic ATP7B 5′ untranslated region and a truncated intron 2. We introduced c.19_20del by site-directed mutagenesis and overexpressed the constructs in HEK293T cells. We analyzed ATP7B expression by qRT-PCR, northern and western blot, and examined protein function by copper export capacity assays. Northern blot, qRT-PCR, and western blot revealed that c.19_20del ATP7B mRNA and protein is expressed in size and amount comparable to wild-type. Copper export capacity was also comparable to wild-type. Our results indicate that c.19_20del in ATP7B is able to bypass NMD by translation reinitiation, demonstrating that the classification of truncating variants as pathogenic without additional investigations should be done carefully." @default.
• W2912797450 created "2019-02-21" @default.
• W2912797450 creator A5012844484 @default.
• W2912797450 creator A5017147865 @default.
• W2912797450 creator A5025309941 @default.
• W2912797450 creator A5030896666 @default.
• W2912797450 creator A5031540176 @default.
• W2912797450 creator A5034497781 @default.
• W2912797450 creator A5054486997 @default.
• W2912797450 creator A5058205881 @default.
• W2912797450 creator A5061726496 @default.
• W2912797450 creator A5065552415 @default.
• W2912797450 creator A5071033298 @default.
• W2912797450 creator A5073234868 @default.
• W2912797450 creator A5087256417 @default.
• W2912797450 date "2019-02-05" @default.
• W2912797450 modified "2023-10-18" @default.
• W2912797450 title "Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export" @default.
• W2912797450 cites W1605785913 @default.
• W2912797450 cites W1909212770 @default.
• W2912797450 cites W1975304302 @default.
• W2912797450 cites W1986291674 @default.
• W2912797450 cites W2002964178 @default.
• W2912797450 cites W2036188709 @default.
• W2912797450 cites W2036625038 @default.
• W2912797450 cites W2051978340 @default.
• W2912797450 cites W2058667639 @default.
• W2912797450 cites W2072896958 @default.
• W2912797450 cites W2088771598 @default.
• W2912797450 cites W2089820342 @default.
• W2912797450 cites W2100738632 @default.
• W2912797450 cites W2105141857 @default.
• W2912797450 cites W2109804315 @default.
• W2912797450 cites W2126784423 @default.
• W2912797450 cites W2127534226 @default.
• W2912797450 cites W2129857098 @default.
• W2912797450 cites W2130074105 @default.
• W2912797450 cites W2134288649 @default.
• W2912797450 cites W2145322004 @default.
• W2912797450 cites W2291725294 @default.
• W2912797450 cites W2520188071 @default.
• W2912797450 cites W2554756829 @default.
• W2912797450 cites W2576410915 @default.
• W2912797450 cites W2765953128 @default.
• W2912797450 cites W2885056822 @default.
• W2912797450 cites W2895349927 @default.
• W2912797450 cites W2950545834 @default.
• W2912797450 doi "https://doi.org/10.1038/s41431-019-0345-1" @default.
• W2912797450 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6777614" @default.
• W2912797450 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30723317" @default.
• W2912797450 hasPublicationYear "2019" @default.
• W2912797450 type Work @default.
• W2912797450 sameAs 2912797450 @default.
• W2912797450 citedByCount "6" @default.
• W2912797450 countsByYear W29127974502019 @default.
• W2912797450 countsByYear W29127974502020 @default.
• W2912797450 countsByYear W29127974502021 @default.
• W2912797450 countsByYear W29127974502022 @default.
• W2912797450 countsByYear W29127974502023 @default.
• W2912797450 crossrefType "journal-article" @default.
• W2912797450 hasAuthorship W2912797450A5012844484 @default.
• W2912797450 hasAuthorship W2912797450A5017147865 @default.
• W2912797450 hasAuthorship W2912797450A5025309941 @default.
• W2912797450 hasAuthorship W2912797450A5030896666 @default.
• W2912797450 hasAuthorship W2912797450A5031540176 @default.
• W2912797450 hasAuthorship W2912797450A5034497781 @default.
• W2912797450 hasAuthorship W2912797450A5054486997 @default.
• W2912797450 hasAuthorship W2912797450A5058205881 @default.
• W2912797450 hasAuthorship W2912797450A5061726496 @default.
• W2912797450 hasAuthorship W2912797450A5065552415 @default.
• W2912797450 hasAuthorship W2912797450A5071033298 @default.
• W2912797450 hasAuthorship W2912797450A5073234868 @default.
• W2912797450 hasAuthorship W2912797450A5087256417 @default.
• W2912797450 hasBestOaLocation W29127974501 @default.
• W2912797450 hasConcept C104317684 @default.
• W2912797450 hasConcept C105580179 @default.
• W2912797450 hasConcept C153911025 @default.
• W2912797450 hasConcept C166342232 @default.
• W2912797450 hasConcept C177707886 @default.
• W2912797450 hasConcept C194583182 @default.
• W2912797450 hasConcept C20580545 @default.
• W2912797450 hasConcept C2776415932 @default.
• W2912797450 hasConcept C36823959 @default.
• W2912797450 hasConcept C501734568 @default.
• W2912797450 hasConcept C54355233 @default.
• W2912797450 hasConcept C54458228 @default.
• W2912797450 hasConcept C67705224 @default.
• W2912797450 hasConcept C70219777 @default.
• W2912797450 hasConcept C75563809 @default.
• W2912797450 hasConcept C86803240 @default.
• W2912797450 hasConcept C89604277 @default.
• W2912797450 hasConcept C91779695 @default.
• W2912797450 hasConcept C94671646 @default.
• W2912797450 hasConcept C96777560 @default.
• W2912797450 hasConceptScore W2912797450C104317684 @default.
• W2912797450 hasConceptScore W2912797450C105580179 @default.
• W2912797450 hasConceptScore W2912797450C153911025 @default.
• W2912797450 hasConceptScore W2912797450C166342232 @default.

• next