FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2154267544> ?p ?o ?g. }

• W2154267544 abstract "Summary Friedreich's ataxia (FRDA) is a recessive neurodegenerative disorder commonly associated with hypertrophic cardiomyopathy. FRDA is due to expanded GAA repeats within the first intron of the gene encoding frataxin, a conserved mitochondrial protein involved in iron-sulphur cluster biosynthesis. This mutation leads to partial gene silencing and substantial reduction of the frataxin level. To overcome limitations of current cellular models of FRDA, we derived induced pluripotent stem cells (iPSCs) from two FRDA patients and successfully differentiated them into neurons and cardiomyocytes, two affected cell types in FRDA. All FRDA iPSC lines displayed expanded GAA alleles prone to high instability and decreased levels of frataxin, but no biochemical phenotype was observed. Interestingly, both FRDA iPSC-derived neurons and cardiomyocytes exhibited signs of impaired mitochondrial function, with decreased mitochondrial membrane potential and progressive mitochondrial degeneration, respectively. Our data show for the first time that FRDA iPSCs and their neuronal and cardiac derivatives represent promising models for the study of mitochondrial damage and GAA expansion instability in FRDA." @default.
• W2154267544 created "2016-06-24" @default.
• W2154267544 creator A5000608187 @default.
• W2154267544 creator A5004803054 @default.
• W2154267544 creator A5005730694 @default.
• W2154267544 creator A5009991932 @default.
• W2154267544 creator A5011384937 @default.
• W2154267544 creator A5015819849 @default.
• W2154267544 creator A5030274845 @default.
• W2154267544 creator A5034547857 @default.
• W2154267544 creator A5044042417 @default.
• W2154267544 creator A5044991109 @default.
• W2154267544 creator A5047899195 @default.
• W2154267544 creator A5056377533 @default.
• W2154267544 creator A5061009064 @default.
• W2154267544 creator A5062635816 @default.
• W2154267544 creator A5073727994 @default.
• W2154267544 creator A5077334767 @default.
• W2154267544 creator A5080418392 @default.
• W2154267544 creator A5087500102 @default.
• W2154267544 date "2013-01-01" @default.
• W2154267544 modified "2023-10-17" @default.
• W2154267544 title "Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia" @default.
• W2154267544 cites W1484379620 @default.
• W2154267544 cites W1564111877 @default.
• W2154267544 cites W1582021639 @default.
• W2154267544 cites W1967120996 @default.
• W2154267544 cites W1971590650 @default.
• W2154267544 cites W1982276380 @default.
• W2154267544 cites W1984830792 @default.
• W2154267544 cites W1986989450 @default.
• W2154267544 cites W1992187326 @default.
• W2154267544 cites W1997826732 @default.
• W2154267544 cites W2000526989 @default.
• W2154267544 cites W2011759409 @default.
• W2154267544 cites W2026404421 @default.
• W2154267544 cites W2033923495 @default.
• W2154267544 cites W2037606715 @default.
• W2154267544 cites W2042953568 @default.
• W2154267544 cites W2051234541 @default.
• W2154267544 cites W2057404038 @default.
• W2154267544 cites W2062700139 @default.
• W2154267544 cites W2065888384 @default.
• W2154267544 cites W2069673982 @default.
• W2154267544 cites W2074070702 @default.
• W2154267544 cites W2076592445 @default.
• W2154267544 cites W2076658021 @default.
• W2154267544 cites W2077633248 @default.
• W2154267544 cites W2078453780 @default.
• W2154267544 cites W2080672347 @default.
• W2154267544 cites W2081433439 @default.
• W2154267544 cites W2091206181 @default.
• W2154267544 cites W2095217602 @default.
• W2154267544 cites W2099689431 @default.
• W2154267544 cites W2101711834 @default.
• W2154267544 cites W2106461017 @default.
• W2154267544 cites W2108196410 @default.
• W2154267544 cites W2108689460 @default.
• W2154267544 cites W2110864849 @default.
• W2154267544 cites W2118183681 @default.
• W2154267544 cites W2119288897 @default.
• W2154267544 cites W2120374147 @default.
• W2154267544 cites W2124972471 @default.
• W2154267544 cites W2128178879 @default.
• W2154267544 cites W2135982928 @default.
• W2154267544 cites W2145136975 @default.
• W2154267544 cites W2149278525 @default.
• W2154267544 cites W2155385687 @default.
• W2154267544 cites W2156538246 @default.
• W2154267544 cites W2158155007 @default.
• W2154267544 cites W2169462682 @default.
• W2154267544 cites W2326598265 @default.
• W2154267544 doi "https://doi.org/10.1242/dmm.010900" @default.
• W2154267544 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3634645" @default.
• W2154267544 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23136396" @default.
• W2154267544 hasPublicationYear "2013" @default.
• W2154267544 type Work @default.
• W2154267544 sameAs 2154267544 @default.
• W2154267544 citedByCount "124" @default.
• W2154267544 countsByYear W21542675442013 @default.
• W2154267544 countsByYear W21542675442014 @default.
• W2154267544 countsByYear W21542675442015 @default.
• W2154267544 countsByYear W21542675442016 @default.
• W2154267544 countsByYear W21542675442017 @default.
• W2154267544 countsByYear W21542675442018 @default.
• W2154267544 countsByYear W21542675442019 @default.
• W2154267544 countsByYear W21542675442020 @default.
• W2154267544 countsByYear W21542675442021 @default.
• W2154267544 countsByYear W21542675442022 @default.
• W2154267544 countsByYear W21542675442023 @default.
• W2154267544 crossrefType "journal-article" @default.
• W2154267544 hasAuthorship W2154267544A5000608187 @default.
• W2154267544 hasAuthorship W2154267544A5004803054 @default.
• W2154267544 hasAuthorship W2154267544A5005730694 @default.
• W2154267544 hasAuthorship W2154267544A5009991932 @default.
• W2154267544 hasAuthorship W2154267544A5011384937 @default.
• W2154267544 hasAuthorship W2154267544A5015819849 @default.
• W2154267544 hasAuthorship W2154267544A5030274845 @default.
• W2154267544 hasAuthorship W2154267544A5034547857 @default.
• W2154267544 hasAuthorship W2154267544A5044042417 @default.

• next