FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2113619872> ?p ?o ?g. }

• W2113619872 endingPage "3046" @default.
• W2113619872 startingPage "3037" @default.
• W2113619872 abstract "Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) is a complex neurocristopathy caused by SOX10 mutations. Most PCWH-associated SOX10 mutations result in premature termination codons (PTCs), for which the molecular mechanism has recently been delineated. However, the first mutation reported to cause PCWH was a disruption of the native stop codon that by conceptual translation extends the protein into the 3′ untranslated region (3′-UTR) for an additional 82 residues. In this study, we sought to determine the currently unknown molecular pathology for the SOX10 extension mutation using in vitro functional assays. Despite the wild-type SOX10 coding sequence remaining intact, the extension mutation led to severely diminished transcription and DNA-binding activities. Nevertheless, it showed no dominant-negative interference with wild-type SOX10 in vitro. Within the 82-amino acid tail, an 11-amino acid region (termed the WR domain) was responsible primarily for the deleterious properties of the extension. The WR domain, presumably forming an α-helix structure, inhibited SOX10 transcription activities if inserted in the carboxyl-terminal half of the protein. The WR domain can also affect other transcription factors with a graded effect when fused to the carboxyl termini, suggesting that it probably elicits a toxic functional activity. Together, molecular pathology for the SOX10 extension mutation is distinct from that of more common PTC mutations. Failure to properly terminate SOX10 translation causes the generation of a deleterious functional domain that occurs because of translation of the normal 3′-UTR; the mutant fusion protein causes a severe neurological disease." @default.
• W2113619872 created "2016-06-24" @default.
• W2113619872 creator A5000612576 @default.
• W2113619872 creator A5007362659 @default.
• W2113619872 creator A5009580976 @default.
• W2113619872 creator A5014765734 @default.
• W2113619872 creator A5050051352 @default.
• W2113619872 creator A5061665380 @default.
• W2113619872 creator A5078358591 @default.
• W2113619872 creator A5079876556 @default.
• W2113619872 creator A5087115660 @default.
• W2113619872 date "2007-09-12" @default.
• W2113619872 modified "2023-10-18" @default.
• W2113619872 title "Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain" @default.
• W2113619872 cites W1958675029 @default.
• W2113619872 cites W1974578353 @default.
• W2113619872 cites W1983724781 @default.
• W2113619872 cites W1997826234 @default.
• W2113619872 cites W2003181300 @default.
• W2113619872 cites W2018816922 @default.
• W2113619872 cites W2021676372 @default.
• W2113619872 cites W2047097392 @default.
• W2113619872 cites W2060811783 @default.
• W2113619872 cites W2068523231 @default.
• W2113619872 cites W2075827799 @default.
• W2113619872 cites W2087447340 @default.
• W2113619872 cites W2094646101 @default.
• W2113619872 cites W2105801262 @default.
• W2113619872 cites W2124531570 @default.
• W2113619872 cites W2126887820 @default.
• W2113619872 cites W2135432285 @default.
• W2113619872 cites W2137450588 @default.
• W2113619872 cites W2145343118 @default.
• W2113619872 cites W2152887121 @default.
• W2113619872 cites W2154100816 @default.
• W2113619872 cites W2162704758 @default.
• W2113619872 cites W2171112022 @default.
• W2113619872 doi "https://doi.org/10.1093/hmg/ddm262" @default.
• W2113619872 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17855451" @default.
• W2113619872 hasPublicationYear "2007" @default.
• W2113619872 type Work @default.
• W2113619872 sameAs 2113619872 @default.
• W2113619872 citedByCount "28" @default.
• W2113619872 countsByYear W21136198722012 @default.
• W2113619872 countsByYear W21136198722014 @default.
• W2113619872 countsByYear W21136198722015 @default.
• W2113619872 countsByYear W21136198722017 @default.
• W2113619872 countsByYear W21136198722018 @default.
• W2113619872 countsByYear W21136198722019 @default.
• W2113619872 countsByYear W21136198722020 @default.
• W2113619872 countsByYear W21136198722021 @default.
• W2113619872 countsByYear W21136198722022 @default.
• W2113619872 countsByYear W21136198722023 @default.
• W2113619872 crossrefType "journal-article" @default.
• W2113619872 hasAuthorship W2113619872A5000612576 @default.
• W2113619872 hasAuthorship W2113619872A5007362659 @default.
• W2113619872 hasAuthorship W2113619872A5009580976 @default.
• W2113619872 hasAuthorship W2113619872A5014765734 @default.
• W2113619872 hasAuthorship W2113619872A5050051352 @default.
• W2113619872 hasAuthorship W2113619872A5061665380 @default.
• W2113619872 hasAuthorship W2113619872A5078358591 @default.
• W2113619872 hasAuthorship W2113619872A5079876556 @default.
• W2113619872 hasAuthorship W2113619872A5087115660 @default.
• W2113619872 hasBestOaLocation W21136198721 @default.
• W2113619872 hasConcept C104317684 @default.
• W2113619872 hasConcept C105580179 @default.
• W2113619872 hasConcept C143065580 @default.
• W2113619872 hasConcept C149364088 @default.
• W2113619872 hasConcept C153911025 @default.
• W2113619872 hasConcept C20580545 @default.
• W2113619872 hasConcept C2777302934 @default.
• W2113619872 hasConcept C2779926675 @default.
• W2113619872 hasConcept C501734568 @default.
• W2113619872 hasConcept C515207424 @default.
• W2113619872 hasConcept C54355233 @default.
• W2113619872 hasConcept C86339819 @default.
• W2113619872 hasConcept C86803240 @default.
• W2113619872 hasConcept C89604277 @default.
• W2113619872 hasConcept C91779695 @default.
• W2113619872 hasConcept C95444343 @default.
• W2113619872 hasConceptScore W2113619872C104317684 @default.
• W2113619872 hasConceptScore W2113619872C105580179 @default.
• W2113619872 hasConceptScore W2113619872C143065580 @default.
• W2113619872 hasConceptScore W2113619872C149364088 @default.
• W2113619872 hasConceptScore W2113619872C153911025 @default.
• W2113619872 hasConceptScore W2113619872C20580545 @default.
• W2113619872 hasConceptScore W2113619872C2777302934 @default.
• W2113619872 hasConceptScore W2113619872C2779926675 @default.
• W2113619872 hasConceptScore W2113619872C501734568 @default.
• W2113619872 hasConceptScore W2113619872C515207424 @default.
• W2113619872 hasConceptScore W2113619872C54355233 @default.
• W2113619872 hasConceptScore W2113619872C86339819 @default.
• W2113619872 hasConceptScore W2113619872C86803240 @default.
• W2113619872 hasConceptScore W2113619872C89604277 @default.
• W2113619872 hasConceptScore W2113619872C91779695 @default.
• W2113619872 hasConceptScore W2113619872C95444343 @default.
• W2113619872 hasIssue "24" @default.
• W2113619872 hasLocation W21136198721 @default.

• next