FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1567209176> ?p ?o ?g. }

• W1567209176 endingPage "8" @default.
• W1567209176 startingPage "51" @default.
• W1567209176 abstract "Deficiency of propionyl-CoA carboxylase (PCC; alpha 4 beta 4) results in the rare, autosomal recessive disease propionic acidemia. Cell fusion experiments have revealed two complementation groups, pccA and pccB, corresponding to defects of the PCCA (alpha-subunit) and PCCB (beta-subunit) genes, respectively. The pccBCC group includes subgroups, pccB and pccC, which are thought to reflect interallelic complementation between certain mutations of the PCCB gene. In this study, we have identified the mutations in two pccB, one pccC, and two pccBC cell lines and have deduced those alleles participating in interallelic complementation. One pccB line was a compound heterozygote of Pro228Leu and Asn536Asp. The latter mutation was also detected in a noncomplementing pccBC line. This leaves Pro228Leu responsible for complementation in the pccB cells. The second pccB line contained an insertional duplication, dupKICK140-143, and a splice mutation IVS + 1 G-->T, located after Lys466. We suggest that the dupKICK mutation is the complementing allele, since the second allele is incompatible with normal splicing. The pccC line studied was homozygous for Arg410Trp, which is necessarily the complementing allele in that line. For a second pccC line, we previously had proposed that delta Ile408 was the complementing allele. We now show that its second allele, Ins.Del, a 14-bp deletion replaced by a 12-bp insertion beginning at codon 407, fails to complement in homozygous form. We conclude that the interallelic complementation results from mutations in domains that can interact between beta-subunits in the PCC heteromer to restore enzymatic function. On the basis of sequence homology with the Propionibacterium shermanii transcarboxylase 12S subunit, we suggest that the pccC domain, defined by Ile408 and Arg410, may involve the propionyl-CoA binding site." @default.
• W1567209176 created "2016-06-24" @default.
• W1567209176 creator A5012647265 @default.
• W1567209176 creator A5014598652 @default.
• W1567209176 creator A5055943348 @default.
• W1567209176 creator A5071624291 @default.
• W1567209176 creator A5071663263 @default.
• W1567209176 creator A5068933032 @default.
• W1567209176 date "1994-07-01" @default.
• W1567209176 modified "2023-09-27" @default.
• W1567209176 title "Mutations participating in interallelic complementation in propionic acidemia." @default.
• W1567209176 cites W1008280890 @default.
• W1567209176 cites W1469706263 @default.
• W1567209176 cites W1498380257 @default.
• W1567209176 cites W1543588515 @default.
• W1567209176 cites W1577530019 @default.
• W1567209176 cites W1789653167 @default.
• W1567209176 cites W1820197401 @default.
• W1567209176 cites W1967518747 @default.
• W1567209176 cites W1975268950 @default.
• W1567209176 cites W1988612921 @default.
• W1567209176 cites W1996027687 @default.
• W1567209176 cites W2009611771 @default.
• W1567209176 cites W2018217203 @default.
• W1567209176 cites W2034525171 @default.
• W1567209176 cites W2040340478 @default.
• W1567209176 cites W2043680210 @default.
• W1567209176 cites W2052907422 @default.
• W1567209176 cites W2060333964 @default.
• W1567209176 cites W2060866459 @default.
• W1567209176 cites W2063641066 @default.
• W1567209176 cites W2068902225 @default.
• W1567209176 cites W2073010856 @default.
• W1567209176 cites W2083585034 @default.
• W1567209176 cites W2086386793 @default.
• W1567209176 cites W2100275919 @default.
• W1567209176 cites W2105764452 @default.
• W1567209176 cites W2151237230 @default.
• W1567209176 cites W2184828145 @default.
• W1567209176 cites W2306440357 @default.
• W1567209176 cites W291909100 @default.
• W1567209176 cites W4254298745 @default.
• W1567209176 cites W56001303 @default.
• W1567209176 cites W7424892 @default.
• W1567209176 cites W83914574 @default.
• W1567209176 cites W1018387574 @default.
• W1567209176 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1918217" @default.
• W1567209176 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8023851" @default.
• W1567209176 hasPublicationYear "1994" @default.
• W1567209176 type Work @default.
• W1567209176 sameAs 1567209176 @default.
• W1567209176 citedByCount "13" @default.
• W1567209176 countsByYear W15672091762016 @default.
• W1567209176 countsByYear W15672091762020 @default.
• W1567209176 countsByYear W15672091762021 @default.
• W1567209176 countsByYear W15672091762022 @default.
• W1567209176 crossrefType "journal-article" @default.
• W1567209176 hasAuthorship W1567209176A5012647265 @default.
• W1567209176 hasAuthorship W1567209176A5014598652 @default.
• W1567209176 hasAuthorship W1567209176A5055943348 @default.
• W1567209176 hasAuthorship W1567209176A5068933032 @default.
• W1567209176 hasAuthorship W1567209176A5071624291 @default.
• W1567209176 hasAuthorship W1567209176A5071663263 @default.
• W1567209176 hasConcept C104317684 @default.
• W1567209176 hasConcept C143065580 @default.
• W1567209176 hasConcept C153911025 @default.
• W1567209176 hasConcept C180754005 @default.
• W1567209176 hasConcept C188082640 @default.
• W1567209176 hasConcept C2779488543 @default.
• W1567209176 hasConcept C501734568 @default.
• W1567209176 hasConcept C54355233 @default.
• W1567209176 hasConcept C55493867 @default.
• W1567209176 hasConcept C86803240 @default.
• W1567209176 hasConceptScore W1567209176C104317684 @default.
• W1567209176 hasConceptScore W1567209176C143065580 @default.
• W1567209176 hasConceptScore W1567209176C153911025 @default.
• W1567209176 hasConceptScore W1567209176C180754005 @default.
• W1567209176 hasConceptScore W1567209176C188082640 @default.
• W1567209176 hasConceptScore W1567209176C2779488543 @default.
• W1567209176 hasConceptScore W1567209176C501734568 @default.
• W1567209176 hasConceptScore W1567209176C54355233 @default.
• W1567209176 hasConceptScore W1567209176C55493867 @default.
• W1567209176 hasConceptScore W1567209176C86803240 @default.
• W1567209176 hasIssue "1" @default.
• W1567209176 hasLocation W15672091761 @default.
• W1567209176 hasOpenAccess W1567209176 @default.
• W1567209176 hasPrimaryLocation W15672091761 @default.
• W1567209176 hasRelatedWork W1567209176 @default.
• W1567209176 hasRelatedWork W1983279094 @default.
• W1567209176 hasRelatedWork W2086282504 @default.
• W1567209176 hasRelatedWork W2112930410 @default.
• W1567209176 hasRelatedWork W2129560423 @default.
• W1567209176 hasRelatedWork W2166717297 @default.
• W1567209176 hasRelatedWork W2397047183 @default.
• W1567209176 hasRelatedWork W2614299484 @default.
• W1567209176 hasRelatedWork W263514579 @default.
• W1567209176 hasRelatedWork W2949452171 @default.
• W1567209176 hasVolume "55" @default.

• next