FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2054947871> ?p ?o ?g. }

• W2054947871 endingPage "e3208" @default.
• W2054947871 startingPage "e3208" @default.
• W2054947871 abstract "Background Despite the considerable progress made in understanding the molecular bases of mitochondrial diseases, no effective treatments have been developed to date. Faithful animal models would be extremely helpful for designing such treatments. We showed previously that the Harlequin mouse phenotype was due to a specific mitochondrial complex I deficiency resulting from the loss of the Apoptosis Inducing Factor (Aif) protein. Methodology/Principal Findings Here, we conducted a detailed evaluation of the Harlequin mouse phenotype, including the biochemical abnormalities in various tissues. We observed highly variable disease expression considering both severity and time course progression. In each tissue, abnormalities correlated with the residual amount of the respiratory chain complex I 20 kDa subunit, rather than with residual Aif protein. Antioxidant enzyme activities were normal except in skeletal muscle, where they were moderately elevated. Conclusions/Significance Thus, the Harlequin mouse phenotype appears to result from mitochondrial respiratory chain complex I deficiency. Its features resemble those of human complex I deficiency syndromes. The Harlequin mouse holds promise as a model for developing treatments for complex I deficiency syndromes." @default.
• W2054947871 created "2016-06-24" @default.
• W2054947871 creator A5005829538 @default.
• W2054947871 creator A5038426776 @default.
• W2054947871 creator A5054627794 @default.
• W2054947871 creator A5060188183 @default.
• W2054947871 creator A5086270023 @default.
• W2054947871 date "2008-09-15" @default.
• W2054947871 modified "2023-10-10" @default.
• W2054947871 title "The Variability of the Harlequin Mouse Phenotype Resembles that of Human Mitochondrial-Complex I-Deficiency Syndromes" @default.
• W2054947871 cites W1484379620 @default.
• W2054947871 cites W1548912336 @default.
• W2054947871 cites W1942588267 @default.
• W2054947871 cites W1981575376 @default.
• W2054947871 cites W1983726222 @default.
• W2054947871 cites W1988565273 @default.
• W2054947871 cites W1988579430 @default.
• W2054947871 cites W1996330065 @default.
• W2054947871 cites W2014947131 @default.
• W2054947871 cites W2031972450 @default.
• W2054947871 cites W2032413974 @default.
• W2054947871 cites W2036110675 @default.
• W2054947871 cites W2036161666 @default.
• W2054947871 cites W2037612957 @default.
• W2054947871 cites W2042138106 @default.
• W2054947871 cites W2044672406 @default.
• W2054947871 cites W2045857306 @default.
• W2054947871 cites W2053101001 @default.
• W2054947871 cites W2073868036 @default.
• W2054947871 cites W2074413613 @default.
• W2054947871 cites W2079319649 @default.
• W2054947871 cites W2088866343 @default.
• W2054947871 cites W2118444721 @default.
• W2054947871 cites W2123671636 @default.
• W2054947871 cites W2146528609 @default.
• W2054947871 cites W2149451428 @default.
• W2054947871 cites W2155891625 @default.
• W2054947871 cites W2160298454 @default.
• W2054947871 cites W4230010421 @default.
• W2054947871 cites W4293247451 @default.
• W2054947871 doi "https://doi.org/10.1371/journal.pone.0003208" @default.
• W2054947871 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2527683" @default.
• W2054947871 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18791645" @default.
• W2054947871 hasPublicationYear "2008" @default.
• W2054947871 type Work @default.
• W2054947871 sameAs 2054947871 @default.
• W2054947871 citedByCount "72" @default.
• W2054947871 countsByYear W20549478712012 @default.
• W2054947871 countsByYear W20549478712013 @default.
• W2054947871 countsByYear W20549478712014 @default.
• W2054947871 countsByYear W20549478712015 @default.
• W2054947871 countsByYear W20549478712016 @default.
• W2054947871 countsByYear W20549478712017 @default.
• W2054947871 countsByYear W20549478712018 @default.
• W2054947871 countsByYear W20549478712019 @default.
• W2054947871 countsByYear W20549478712020 @default.
• W2054947871 countsByYear W20549478712021 @default.
• W2054947871 countsByYear W20549478712022 @default.
• W2054947871 countsByYear W20549478712023 @default.
• W2054947871 crossrefType "journal-article" @default.
• W2054947871 hasAuthorship W2054947871A5005829538 @default.
• W2054947871 hasAuthorship W2054947871A5038426776 @default.
• W2054947871 hasAuthorship W2054947871A5054627794 @default.
• W2054947871 hasAuthorship W2054947871A5060188183 @default.
• W2054947871 hasAuthorship W2054947871A5086270023 @default.
• W2054947871 hasBestOaLocation W20549478711 @default.
• W2054947871 hasConcept C104292427 @default.
• W2054947871 hasConcept C104317684 @default.
• W2054947871 hasConcept C127716648 @default.
• W2054947871 hasConcept C24586158 @default.
• W2054947871 hasConcept C2777614518 @default.
• W2054947871 hasConcept C28859421 @default.
• W2054947871 hasConcept C3020377403 @default.
• W2054947871 hasConcept C3020761558 @default.
• W2054947871 hasConcept C54355233 @default.
• W2054947871 hasConcept C86803240 @default.
• W2054947871 hasConceptScore W2054947871C104292427 @default.
• W2054947871 hasConceptScore W2054947871C104317684 @default.
• W2054947871 hasConceptScore W2054947871C127716648 @default.
• W2054947871 hasConceptScore W2054947871C24586158 @default.
• W2054947871 hasConceptScore W2054947871C2777614518 @default.
• W2054947871 hasConceptScore W2054947871C28859421 @default.
• W2054947871 hasConceptScore W2054947871C3020377403 @default.
• W2054947871 hasConceptScore W2054947871C3020761558 @default.
• W2054947871 hasConceptScore W2054947871C54355233 @default.
• W2054947871 hasConceptScore W2054947871C86803240 @default.
• W2054947871 hasIssue "9" @default.
• W2054947871 hasLocation W20549478711 @default.
• W2054947871 hasLocation W20549478712 @default.
• W2054947871 hasLocation W20549478713 @default.
• W2054947871 hasLocation W20549478714 @default.
• W2054947871 hasOpenAccess W2054947871 @default.
• W2054947871 hasPrimaryLocation W20549478711 @default.
• W2054947871 hasRelatedWork W1981938774 @default.
• W2054947871 hasRelatedWork W2042607586 @default.
• W2054947871 hasRelatedWork W2058254883 @default.
• W2054947871 hasRelatedWork W2080999476 @default.
• W2054947871 hasRelatedWork W2085962754 @default.

• next