FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2095404797> ?p ?o ?g. }

• W2095404797 endingPage "17" @default.
• W2095404797 startingPage "10" @default.
• W2095404797 abstract "Rett syndrome (RTT) is a severe neurodevelopmental disorder, predominantly caused by mutations in the X-linked Methyl-CpG-binding protein 2 (MECP2) gene. Patients present with numerous functional deficits including intellectual disability and abnormalities of movement. Clinical and biochemical features may overlap with those seen in patients with primary mitochondrial respiratory chain disorders. In the late stages of the disorder, patients suffer from motor deterioration and usually require assisted mobility. Using a mouse model of RTT (Mecp2tm1Tam), we studied the mitochondrial function in the hind-limb skeletal muscle of these mice. We identified a reduction in cytochrome c oxidase subunit I (MTCO1) at both the transcript and protein level, in accordance with our previous findings in RTT patient brain studies. Mitochondrial respiratory chain (MRC) enzyme activity of complexes II + III (COII + III) and complex IV (COIV), and glutathione (GSH) levels were significantly reduced in symptomatic mice, but not in the pre-symptomatic mice. Our findings suggest that mitochondrial abnormalities in the skeletal muscle may contribute to the progressive deterioration in mobility in RTT through the accumulation of free radicals, as evidenced by the decrease in reduced glutathione (GSH). We hypothesise that a diminution in GSH leads to an accumulation of free radicals and an increase in oxidative stress. This may impact on respiratory chain function and contribute in part to the progressive neurological and motor deterioration seen in the Mecp2-mutant mouse. Treatment strategies aimed at restoring cellular GSH levels may prove to be a novel target area to consider in future approaches to RTT therapies." @default.
• W2095404797 created "2016-06-24" @default.
• W2095404797 creator A5003074211 @default.
• W2095404797 creator A5010298708 @default.
• W2095404797 creator A5022649634 @default.
• W2095404797 creator A5044013560 @default.
• W2095404797 creator A5045791231 @default.
• W2095404797 creator A5049883489 @default.
• W2095404797 creator A5087252357 @default.
• W2095404797 creator A5088762255 @default.
• W2095404797 date "2014-03-01" @default.
• W2095404797 modified "2023-10-18" @default.
• W2095404797 title "Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): Implications for the disease phenotype" @default.
• W2095404797 cites W1490805894 @default.
• W2095404797 cites W1515247384 @default.
• W2095404797 cites W1559742681 @default.
• W2095404797 cites W1964156857 @default.
• W2095404797 cites W1964641978 @default.
• W2095404797 cites W1981772054 @default.
• W2095404797 cites W1984549890 @default.
• W2095404797 cites W1989705623 @default.
• W2095404797 cites W1990854708 @default.
• W2095404797 cites W1999671103 @default.
• W2095404797 cites W2001621733 @default.
• W2095404797 cites W2002532393 @default.
• W2095404797 cites W2004437670 @default.
• W2095404797 cites W2007653477 @default.
• W2095404797 cites W2011812207 @default.
• W2095404797 cites W2012726011 @default.
• W2095404797 cites W2012834939 @default.
• W2095404797 cites W2017011351 @default.
• W2095404797 cites W2017957245 @default.
• W2095404797 cites W2018427433 @default.
• W2095404797 cites W2021683084 @default.
• W2095404797 cites W2023454163 @default.
• W2095404797 cites W2027670788 @default.
• W2095404797 cites W2028880433 @default.
• W2095404797 cites W2032595150 @default.
• W2095404797 cites W2035970201 @default.
• W2095404797 cites W2040063716 @default.
• W2095404797 cites W2045042214 @default.
• W2095404797 cites W2045345793 @default.
• W2095404797 cites W2046566365 @default.
• W2095404797 cites W2049240080 @default.
• W2095404797 cites W2051385624 @default.
• W2095404797 cites W2051460287 @default.
• W2095404797 cites W2062943711 @default.
• W2095404797 cites W2066022554 @default.
• W2095404797 cites W2068364000 @default.
• W2095404797 cites W2072502632 @default.
• W2095404797 cites W2077116340 @default.
• W2095404797 cites W2080061869 @default.
• W2095404797 cites W2086670151 @default.
• W2095404797 cites W2087393295 @default.
• W2095404797 cites W2088270875 @default.
• W2095404797 cites W2089097264 @default.
• W2095404797 cites W2104811636 @default.
• W2095404797 cites W2109000782 @default.
• W2095404797 cites W2114570899 @default.
• W2095404797 cites W2121968247 @default.
• W2095404797 cites W2131117779 @default.
• W2095404797 cites W2147158491 @default.
• W2095404797 cites W2147946502 @default.
• W2095404797 cites W2154057943 @default.
• W2095404797 cites W2168729166 @default.
• W2095404797 cites W2171047055 @default.
• W2095404797 cites W2171217650 @default.
• W2095404797 cites W42221275 @default.
• W2095404797 doi "https://doi.org/10.1016/j.mito.2014.02.012" @default.
• W2095404797 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24613463" @default.
• W2095404797 hasPublicationYear "2014" @default.
• W2095404797 type Work @default.
• W2095404797 sameAs 2095404797 @default.
• W2095404797 citedByCount "52" @default.
• W2095404797 countsByYear W20954047972014 @default.
• W2095404797 countsByYear W20954047972015 @default.
• W2095404797 countsByYear W20954047972016 @default.
• W2095404797 countsByYear W20954047972017 @default.
• W2095404797 countsByYear W20954047972018 @default.
• W2095404797 countsByYear W20954047972019 @default.
• W2095404797 countsByYear W20954047972020 @default.
• W2095404797 countsByYear W20954047972021 @default.
• W2095404797 countsByYear W20954047972022 @default.
• W2095404797 countsByYear W20954047972023 @default.
• W2095404797 crossrefType "journal-article" @default.
• W2095404797 hasAuthorship W2095404797A5003074211 @default.
• W2095404797 hasAuthorship W2095404797A5010298708 @default.
• W2095404797 hasAuthorship W2095404797A5022649634 @default.
• W2095404797 hasAuthorship W2095404797A5044013560 @default.
• W2095404797 hasAuthorship W2095404797A5045791231 @default.
• W2095404797 hasAuthorship W2095404797A5049883489 @default.
• W2095404797 hasAuthorship W2095404797A5087252357 @default.
• W2095404797 hasAuthorship W2095404797A5088762255 @default.
• W2095404797 hasConcept C104317684 @default.
• W2095404797 hasConcept C123249941 @default.
• W2095404797 hasConcept C126322002 @default.
• W2095404797 hasConcept C127716648 @default.
• W2095404797 hasConcept C134018914 @default.

• next