FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2065252302> ?p ?o ?g. }

• W2065252302 endingPage "330" @default.
• W2065252302 startingPage "325" @default.
• W2065252302 abstract "Mutations in SUCLA2, encoding the ß-subunit of succinyl-CoA synthetase of Krebs cycle, are one cause of mitochondrial DNA depletion syndrome. Patients have been reported to have severe progressive childhood-onset encephalomyopathy, and methylmalonic aciduria, often leading to death in childhood. We studied two families, with children manifesting with slowly progressive mitochondrial encephalomyopathy, hearing impairment and transient methylmalonic aciduria, without mtDNA depletion. The other family also showed dominant inheritance of bilateral retinoblastoma, which coexisted with mitochondrial encephalomyopathy in one patient. We found a variant in SUCLA2 leading to Asp333Gly change, homozygous in one patient and compound heterozygous in one. The latter patient also carried a deletion of 13q14 of the other allele, discovered with molecular karyotyping. The deletion spanned both SUCLA2 and RB1 gene regions, leading to manifestation of both mitochondrial disease and retinoblastoma. We made a homology model for human succinyl-CoA synthetase and used it for structure-function analysis of all reported pathogenic mutations in SUCLA2. On the basis of our model, all previously described mutations were predicted to result in decreased amounts of incorrectly assembled protein or disruption of ADP phosphorylation, explaining the severe early lethal manifestations. However, the Asp333Gly change was predicted to reduce the activity of the otherwise functional enzyme. On the basis of our findings, SUCLA2 mutations should be analyzed in patients with slowly progressive encephalomyopathy, even in the absence of methylmalonic aciduria or mitochondrial DNA depletion. In addition, an encephalomyopathy in a patient with retinoblastoma suggests mutations affecting SUCLA2." @default.
• W2065252302 created "2016-06-24" @default.
• W2065252302 creator A5015077221 @default.
• W2065252302 creator A5019040135 @default.
• W2065252302 creator A5051470266 @default.
• W2065252302 creator A5055881297 @default.
• W2065252302 creator A5059776722 @default.
• W2065252302 creator A5061096092 @default.
• W2065252302 creator A5085670796 @default.
• W2065252302 creator A5086978266 @default.
• W2065252302 date "2014-07-02" @default.
• W2065252302 modified "2023-10-10" @default.
• W2065252302 title "Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion" @default.
• W2065252302 cites W1963728028 @default.
• W2065252302 cites W1968673134 @default.
• W2065252302 cites W1971586909 @default.
• W2065252302 cites W1978383492 @default.
• W2065252302 cites W1981346465 @default.
• W2065252302 cites W2001888407 @default.
• W2065252302 cites W2002063846 @default.
• W2065252302 cites W2020985206 @default.
• W2065252302 cites W2022507045 @default.
• W2065252302 cites W2030833218 @default.
• W2065252302 cites W2036117021 @default.
• W2065252302 cites W2039837715 @default.
• W2065252302 cites W2068380480 @default.
• W2065252302 cites W2072451938 @default.
• W2065252302 cites W2082110260 @default.
• W2065252302 cites W2115320153 @default.
• W2065252302 cites W2117715424 @default.
• W2065252302 cites W2149430724 @default.
• W2065252302 cites W3023781487 @default.
• W2065252302 cites W3023812536 @default.
• W2065252302 doi "https://doi.org/10.1038/ejhg.2014.128" @default.
• W2065252302 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5315504" @default.
• W2065252302 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28179631" @default.
• W2065252302 hasPublicationYear "2014" @default.
• W2065252302 type Work @default.
• W2065252302 sameAs 2065252302 @default.
• W2065252302 citedByCount "18" @default.
• W2065252302 countsByYear W20652523022015 @default.
• W2065252302 countsByYear W20652523022016 @default.
• W2065252302 countsByYear W20652523022017 @default.
• W2065252302 countsByYear W20652523022018 @default.
• W2065252302 countsByYear W20652523022019 @default.
• W2065252302 countsByYear W20652523022020 @default.
• W2065252302 countsByYear W20652523022021 @default.
• W2065252302 countsByYear W20652523022023 @default.
• W2065252302 crossrefType "journal-article" @default.
• W2065252302 hasAuthorship W2065252302A5015077221 @default.
• W2065252302 hasAuthorship W2065252302A5019040135 @default.
• W2065252302 hasAuthorship W2065252302A5051470266 @default.
• W2065252302 hasAuthorship W2065252302A5055881297 @default.
• W2065252302 hasAuthorship W2065252302A5059776722 @default.
• W2065252302 hasAuthorship W2065252302A5061096092 @default.
• W2065252302 hasAuthorship W2065252302A5085670796 @default.
• W2065252302 hasAuthorship W2065252302A5086978266 @default.
• W2065252302 hasBestOaLocation W20652523021 @default.
• W2065252302 hasConcept C104317684 @default.
• W2065252302 hasConcept C12125453 @default.
• W2065252302 hasConcept C134018914 @default.
• W2065252302 hasConcept C143589142 @default.
• W2065252302 hasConcept C176944494 @default.
• W2065252302 hasConcept C180754005 @default.
• W2065252302 hasConcept C24586158 @default.
• W2065252302 hasConcept C2776577112 @default.
• W2065252302 hasConcept C2778159418 @default.
• W2065252302 hasConcept C2779799828 @default.
• W2065252302 hasConcept C501734568 @default.
• W2065252302 hasConcept C54355233 @default.
• W2065252302 hasConcept C86803240 @default.
• W2065252302 hasConceptScore W2065252302C104317684 @default.
• W2065252302 hasConceptScore W2065252302C12125453 @default.
• W2065252302 hasConceptScore W2065252302C134018914 @default.
• W2065252302 hasConceptScore W2065252302C143589142 @default.
• W2065252302 hasConceptScore W2065252302C176944494 @default.
• W2065252302 hasConceptScore W2065252302C180754005 @default.
• W2065252302 hasConceptScore W2065252302C24586158 @default.
• W2065252302 hasConceptScore W2065252302C2776577112 @default.
• W2065252302 hasConceptScore W2065252302C2778159418 @default.
• W2065252302 hasConceptScore W2065252302C2779799828 @default.
• W2065252302 hasConceptScore W2065252302C501734568 @default.
• W2065252302 hasConceptScore W2065252302C54355233 @default.
• W2065252302 hasConceptScore W2065252302C86803240 @default.
• W2065252302 hasIssue "3" @default.
• W2065252302 hasLocation W20652523021 @default.
• W2065252302 hasLocation W20652523022 @default.
• W2065252302 hasLocation W20652523023 @default.
• W2065252302 hasLocation W20652523024 @default.
• W2065252302 hasOpenAccess W2065252302 @default.
• W2065252302 hasPrimaryLocation W20652523021 @default.
• W2065252302 hasRelatedWork W1983809647 @default.
• W2065252302 hasRelatedWork W2026004874 @default.
• W2065252302 hasRelatedWork W2049216889 @default.
• W2065252302 hasRelatedWork W2098718533 @default.
• W2065252302 hasRelatedWork W2349294463 @default.
• W2065252302 hasRelatedWork W2360704074 @default.
• W2065252302 hasRelatedWork W2419523016 @default.

• next