FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2039436541> ?p ?o ?g. }

• W2039436541 endingPage "3074" @default.
• W2039436541 startingPage "3065" @default.
• W2039436541 abstract "Phenotypic diversity associated with pathogenic mutations of the human mitochondrial genome (mtDNA) has often been explained by unequal segregation of the mutated and wild-type genomes (heteroplasmy). However, this simple hypothesis cannot explain the tissue specificity of disorders caused by homoplasmic mtDNA mutations. We have previously associated a homoplasmic point mutation (1624C>T) in MTTV with a profound metabolic disorder that resulted in the neonatal deaths of numerous siblings. Affected tissues harboured a marked biochemical defect in components of the mitochondrial respiratory chain, presumably due to the extremely low (<1%) steady-state levels of mt-tRNA(Val). In primary myoblasts and transmitochondrial cybrids established from the proband (index case) and offspring, the marked respiratory deficiency was lost and steady-state levels of the mutated mt-tRNA(Val) were greater than in the biopsy material, but were still an order of magnitude lower than in control myoblasts. We present evidence that the generalized decrease in steady-state mt-tRNA(Val) observed in the homoplasmic 1624C>T-cell lines is caused by a rapid degradation of the deacylated form of the abnormal mt-tRNA(Val). By both establishing the identity of the human mitochondrial valyl-tRNA synthetase then inducing its overexpression in transmitochondrial cell lines, we have been able to partially restore steady-state levels of the mutated mt-tRNA(Val), consistent with an increased stability of the charged mt-tRNA. These data indicate that variations in the levels of VARS2L between tissue types and patients could underlie the difference in clinical presentation between individuals homoplasmic for the 1624C>T mutation." @default.
• W2039436541 created "2016-06-24" @default.
• W2039436541 creator A5003252797 @default.
• W2039436541 creator A5018057407 @default.
• W2039436541 creator A5024032202 @default.
• W2039436541 creator A5035296048 @default.
• W2039436541 creator A5050112900 @default.
• W2039436541 creator A5050164237 @default.
• W2039436541 creator A5050697713 @default.
• W2039436541 creator A5053767923 @default.
• W2039436541 creator A5066457081 @default.
• W2039436541 date "2008-04-08" @default.
• W2039436541 modified "2023-09-27" @default.
• W2039436541 title "Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation" @default.
• W2039436541 cites W1480388053 @default.
• W2039436541 cites W1801236538 @default.
• W2039436541 cites W1964809391 @default.
• W2039436541 cites W1976393409 @default.
• W2039436541 cites W1976628426 @default.
• W2039436541 cites W1986356700 @default.
• W2039436541 cites W1990030568 @default.
• W2039436541 cites W1990890737 @default.
• W2039436541 cites W2008623505 @default.
• W2039436541 cites W2017347785 @default.
• W2039436541 cites W2019994138 @default.
• W2039436541 cites W2021674095 @default.
• W2039436541 cites W2027953819 @default.
• W2039436541 cites W2039243132 @default.
• W2039436541 cites W2040705960 @default.
• W2039436541 cites W2045498216 @default.
• W2039436541 cites W2052653378 @default.
• W2039436541 cites W2053064002 @default.
• W2039436541 cites W2057262863 @default.
• W2039436541 cites W2058133763 @default.
• W2039436541 cites W2062911783 @default.
• W2039436541 cites W2075072811 @default.
• W2039436541 cites W2085791091 @default.
• W2039436541 cites W2087978354 @default.
• W2039436541 cites W2098508830 @default.
• W2039436541 cites W2106652571 @default.
• W2039436541 cites W2166664098 @default.
• W2039436541 cites W2168041980 @default.
• W2039436541 cites W4230010421 @default.
• W2039436541 doi "https://doi.org/10.1093/nar/gkn147" @default.
• W2039436541 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2396425" @default.
• W2039436541 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18400783" @default.
• W2039436541 hasPublicationYear "2008" @default.
• W2039436541 type Work @default.
• W2039436541 sameAs 2039436541 @default.
• W2039436541 citedByCount "73" @default.
• W2039436541 countsByYear W20394365412012 @default.
• W2039436541 countsByYear W20394365412013 @default.
• W2039436541 countsByYear W20394365412014 @default.
• W2039436541 countsByYear W20394365412015 @default.
• W2039436541 countsByYear W20394365412016 @default.
• W2039436541 countsByYear W20394365412017 @default.
• W2039436541 countsByYear W20394365412018 @default.
• W2039436541 countsByYear W20394365412019 @default.
• W2039436541 countsByYear W20394365412020 @default.
• W2039436541 countsByYear W20394365412021 @default.
• W2039436541 crossrefType "journal-article" @default.
• W2039436541 hasAuthorship W2039436541A5003252797 @default.
• W2039436541 hasAuthorship W2039436541A5018057407 @default.
• W2039436541 hasAuthorship W2039436541A5024032202 @default.
• W2039436541 hasAuthorship W2039436541A5035296048 @default.
• W2039436541 hasAuthorship W2039436541A5050112900 @default.
• W2039436541 hasAuthorship W2039436541A5050164237 @default.
• W2039436541 hasAuthorship W2039436541A5050697713 @default.
• W2039436541 hasAuthorship W2039436541A5053767923 @default.
• W2039436541 hasAuthorship W2039436541A5066457081 @default.
• W2039436541 hasBestOaLocation W20394365412 @default.
• W2039436541 hasConcept C104317684 @default.
• W2039436541 hasConcept C153911025 @default.
• W2039436541 hasConcept C153957851 @default.
• W2039436541 hasConcept C176944494 @default.
• W2039436541 hasConcept C181561989 @default.
• W2039436541 hasConcept C24586158 @default.
• W2039436541 hasConcept C28859421 @default.
• W2039436541 hasConcept C3020377403 @default.
• W2039436541 hasConcept C501734568 @default.
• W2039436541 hasConcept C54355233 @default.
• W2039436541 hasConcept C67705224 @default.
• W2039436541 hasConcept C86803240 @default.
• W2039436541 hasConceptScore W2039436541C104317684 @default.
• W2039436541 hasConceptScore W2039436541C153911025 @default.
• W2039436541 hasConceptScore W2039436541C153957851 @default.
• W2039436541 hasConceptScore W2039436541C176944494 @default.
• W2039436541 hasConceptScore W2039436541C181561989 @default.
• W2039436541 hasConceptScore W2039436541C24586158 @default.
• W2039436541 hasConceptScore W2039436541C28859421 @default.
• W2039436541 hasConceptScore W2039436541C3020377403 @default.
• W2039436541 hasConceptScore W2039436541C501734568 @default.
• W2039436541 hasConceptScore W2039436541C54355233 @default.
• W2039436541 hasConceptScore W2039436541C67705224 @default.
• W2039436541 hasConceptScore W2039436541C86803240 @default.
• W2039436541 hasIssue "9" @default.
• W2039436541 hasLocation W20394365411 @default.
• W2039436541 hasLocation W20394365412 @default.

• next