FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2007141625> ?p ?o ?g. }

• W2007141625 endingPage "e94069" @default.
• W2007141625 startingPage "e94069" @default.
• W2007141625 abstract "Friedreich ataxia (FRDA) is the most frequent progressive autosomal recessive disorder associated with unstable expansion of GAA trinucleotide repeats in the first intron of the FXN gene, which encodes for the mitochondrial frataxin protein. The number of repeats correlates with disease severity, where impaired transcription of the FXN gene results in reduced expression of the frataxin protein. Gene expression studies provide insights into disease pathogenicity and identify potential biomarkers, an important goal of translational research in neurodegenerative diseases. Here, using real-time PCR (RT-PCR), the expression profiles of mitochondrial (mtDNA) and nuclear DNA (nDNA) genes that encode for the mitochondrial subunits of respiratory oxidative phosphorylation (OXPHOS) complex I in the blood panels of 21 FRDA patients and 24 healthy controls were investigated. Here, the expression pattern of mtDNA-encoded complex I subunits was distinctly different from the expression pattern of nDNA-encoded complex I subunits, where significant (p<0.05) down-regulation of the mitochondrial ND2, ND4L, and ND6 complex I genes, compared to controls, were observed. In addition, the expression pattern of one nDNA-encoded gene, NDUFA1, was significantly (p<0.05) down-regulated compared to control. These findings suggest, for the first time, that the regulation of complex I subunit expression in FRDA is complex, rather than merely being a reflection of global co-regulation, and may provide important clues toward novel therapeutic strategies for FRDA and mitochondrial complex I deficiency." @default.
• W2007141625 created "2016-06-24" @default.
• W2007141625 creator A5000077328 @default.
• W2007141625 creator A5013380877 @default.
• W2007141625 creator A5024319319 @default.
• W2007141625 creator A5029641760 @default.
• W2007141625 creator A5033138833 @default.
• W2007141625 creator A5040915789 @default.
• W2007141625 creator A5048667665 @default.
• W2007141625 date "2014-04-04" @default.
• W2007141625 modified "2023-10-16" @default.
• W2007141625 title "Gene Expression Profiling of Mitochondrial Oxidative Phosphorylation (OXPHOS) Complex I in Friedreich Ataxia (FRDA) Patients" @default.
• W2007141625 cites W1484379620 @default.
• W2007141625 cites W1801236538 @default.
• W2007141625 cites W1967922486 @default.
• W2007141625 cites W1990189970 @default.
• W2007141625 cites W2006786379 @default.
• W2007141625 cites W2010802040 @default.
• W2007141625 cites W2014020549 @default.
• W2007141625 cites W2020369221 @default.
• W2007141625 cites W2023717692 @default.
• W2007141625 cites W2028504089 @default.
• W2007141625 cites W2033923495 @default.
• W2007141625 cites W2035312624 @default.
• W2007141625 cites W2044434370 @default.
• W2007141625 cites W2057404038 @default.
• W2007141625 cites W2072432421 @default.
• W2007141625 cites W2073706859 @default.
• W2007141625 cites W2073995490 @default.
• W2007141625 cites W2085513925 @default.
• W2007141625 cites W2088339105 @default.
• W2007141625 cites W2091449337 @default.
• W2007141625 cites W2093319492 @default.
• W2007141625 cites W2095184629 @default.
• W2007141625 cites W2107277218 @default.
• W2007141625 cites W2110864849 @default.
• W2007141625 cites W2113439382 @default.
• W2007141625 cites W2115715931 @default.
• W2007141625 cites W2115953418 @default.
• W2007141625 cites W2119863500 @default.
• W2007141625 cites W2120039680 @default.
• W2007141625 cites W2121157958 @default.
• W2007141625 cites W2123106337 @default.
• W2007141625 cites W2137638496 @default.
• W2007141625 cites W2137770909 @default.
• W2007141625 cites W2140354171 @default.
• W2007141625 cites W2145136975 @default.
• W2007141625 cites W2154254146 @default.
• W2007141625 cites W2158155007 @default.
• W2007141625 cites W2162142896 @default.
• W2007141625 cites W2168013509 @default.
• W2007141625 cites W2168359248 @default.
• W2007141625 cites W2171638979 @default.
• W2007141625 cites W77947426 @default.
• W2007141625 cites W80301384 @default.
• W2007141625 doi "https://doi.org/10.1371/journal.pone.0094069" @default.
• W2007141625 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3976380" @default.
• W2007141625 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24705504" @default.
• W2007141625 hasPublicationYear "2014" @default.
• W2007141625 type Work @default.
• W2007141625 sameAs 2007141625 @default.
• W2007141625 citedByCount "29" @default.
• W2007141625 countsByYear W20071416252014 @default.
• W2007141625 countsByYear W20071416252015 @default.
• W2007141625 countsByYear W20071416252016 @default.
• W2007141625 countsByYear W20071416252017 @default.
• W2007141625 countsByYear W20071416252018 @default.
• W2007141625 countsByYear W20071416252019 @default.
• W2007141625 countsByYear W20071416252020 @default.
• W2007141625 countsByYear W20071416252021 @default.
• W2007141625 countsByYear W20071416252022 @default.
• W2007141625 crossrefType "journal-article" @default.
• W2007141625 hasAuthorship W2007141625A5000077328 @default.
• W2007141625 hasAuthorship W2007141625A5013380877 @default.
• W2007141625 hasAuthorship W2007141625A5024319319 @default.
• W2007141625 hasAuthorship W2007141625A5029641760 @default.
• W2007141625 hasAuthorship W2007141625A5033138833 @default.
• W2007141625 hasAuthorship W2007141625A5040915789 @default.
• W2007141625 hasAuthorship W2007141625A5048667665 @default.
• W2007141625 hasBestOaLocation W20071416251 @default.
• W2007141625 hasConcept C104317684 @default.
• W2007141625 hasConcept C150194340 @default.
• W2007141625 hasConcept C151994961 @default.
• W2007141625 hasConcept C153911025 @default.
• W2007141625 hasConcept C165864922 @default.
• W2007141625 hasConcept C166252455 @default.
• W2007141625 hasConcept C169760540 @default.
• W2007141625 hasConcept C180754005 @default.
• W2007141625 hasConcept C18431079 @default.
• W2007141625 hasConcept C24586158 @default.
• W2007141625 hasConcept C2777614518 @default.
• W2007141625 hasConcept C2779314966 @default.
• W2007141625 hasConcept C2779369046 @default.
• W2007141625 hasConcept C2780906641 @default.
• W2007141625 hasConcept C54355233 @default.
• W2007141625 hasConcept C55493867 @default.
• W2007141625 hasConcept C57600042 @default.
• W2007141625 hasConcept C86803240 @default.

• next