FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1990773197> ?p ?o ?g. }

• W1990773197 endingPage "6487" @default.
• W1990773197 startingPage "6478" @default.
• W1990773197 abstract "Friedreich's ataxia (FRDA) is a progressive neurodegenerative disease that has been linked to defects in the protein frataxin (Fxn). Most FRDA patients have a GAA expansion in the first intron of their Fxn gene that decreases protein expression. Some FRDA patients have a GAA expansion on one allele and a missense mutation on the other allele. Few functional details are known for the ∼15 different missense mutations identified in FRDA patients. Here in vitro evidence is presented that indicates the FRDA I154F and W155R variants bind more weakly to the complex of Nfs1, Isd11, and Isu2 and thereby are defective in forming the four-component SDUF complex that constitutes the core of the Fe-S cluster assembly machine. The binding affinities follow the trend Fxn ∼ I154F > W155F > W155A ∼ W155R. The Fxn variants also have diminished ability to function as part of the SDUF complex to stimulate the cysteine desulfurase reaction and facilitate Fe-S cluster assembly. Four crystal structures, including the first for a FRDA variant, reveal specific rearrangements associated with the loss of function and lead to a model for Fxn-based activation of the Fe-S cluster assembly complex. Importantly, the weaker binding and lower activity for FRDA variants correlate with the severity of disease progression. Together, these results suggest that Fxn facilitates sulfur transfer from Nfs1 to Isu2 and that these in vitro assays are sensitive and appropriate for deciphering functional defects and mechanistic details for human Fe-S cluster biosynthesis." @default.
• W1990773197 created "2016-06-24" @default.
• W1990773197 creator A5022564838 @default.
• W1990773197 creator A5031435504 @default.
• W1990773197 creator A5068509466 @default.
• W1990773197 date "2011-06-29" @default.
• W1990773197 modified "2023-10-10" @default.
• W1990773197 title "Friedreich’s Ataxia Variants I154F and W155R Diminish Frataxin-Based Activation of the Iron–Sulfur Cluster Assembly Complex" @default.
• W1990773197 cites W1506664007 @default.
• W1990773197 cites W1955897922 @default.
• W1990773197 cites W1967120996 @default.
• W1990773197 cites W1970941005 @default.
• W1990773197 cites W1973464147 @default.
• W1990773197 cites W1976839484 @default.
• W1990773197 cites W1989239257 @default.
• W1990773197 cites W1990189970 @default.
• W1990773197 cites W1996607909 @default.
• W1990773197 cites W2001641653 @default.
• W1990773197 cites W2009896370 @default.
• W1990773197 cites W2013947447 @default.
• W1990773197 cites W2014020549 @default.
• W1990773197 cites W2015566467 @default.
• W1990773197 cites W2025348458 @default.
• W1990773197 cites W2025416685 @default.
• W1990773197 cites W2031212222 @default.
• W1990773197 cites W2035312624 @default.
• W1990773197 cites W2037196385 @default.
• W1990773197 cites W2043666185 @default.
• W1990773197 cites W2046347557 @default.
• W1990773197 cites W2049110179 @default.
• W1990773197 cites W2054525948 @default.
• W1990773197 cites W2056390790 @default.
• W1990773197 cites W2057776677 @default.
• W1990773197 cites W2058693233 @default.
• W1990773197 cites W2060121377 @default.
• W1990773197 cites W2072207453 @default.
• W1990773197 cites W2074981631 @default.
• W1990773197 cites W2075817699 @default.
• W1990773197 cites W2078448486 @default.
• W1990773197 cites W2078453780 @default.
• W1990773197 cites W2080851578 @default.
• W1990773197 cites W2083814934 @default.
• W1990773197 cites W2084271125 @default.
• W1990773197 cites W2087192500 @default.
• W1990773197 cites W2087921651 @default.
• W1990773197 cites W2095217602 @default.
• W1990773197 cites W2095269394 @default.
• W1990773197 cites W2101711834 @default.
• W1990773197 cites W2101901686 @default.
• W1990773197 cites W2105822562 @default.
• W1990773197 cites W2106053335 @default.
• W1990773197 cites W2108689460 @default.
• W1990773197 cites W2109458478 @default.
• W1990773197 cites W2109962929 @default.
• W1990773197 cites W2110864849 @default.
• W1990773197 cites W2113508000 @default.
• W1990773197 cites W2118949498 @default.
• W1990773197 cites W2120039680 @default.
• W1990773197 cites W2124033454 @default.
• W1990773197 cites W2125078806 @default.
• W1990773197 cites W2126338957 @default.
• W1990773197 cites W2133155560 @default.
• W1990773197 cites W2135839939 @default.
• W1990773197 cites W2136321020 @default.
• W1990773197 cites W2139975428 @default.
• W1990773197 cites W2143361020 @default.
• W1990773197 cites W2144097910 @default.
• W1990773197 cites W2156612276 @default.
• W1990773197 cites W2158155007 @default.
• W1990773197 cites W2160690759 @default.
• W1990773197 cites W2161822445 @default.
• W1990773197 cites W2163341755 @default.
• W1990773197 cites W2171678792 @default.
• W1990773197 cites W2326598265 @default.
• W1990773197 cites W2336904126 @default.
• W1990773197 cites W5024670 @default.
• W1990773197 doi "https://doi.org/10.1021/bi200666h" @default.
• W1990773197 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3319458" @default.
• W1990773197 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21671584" @default.
• W1990773197 hasPublicationYear "2011" @default.
• W1990773197 type Work @default.
• W1990773197 sameAs 1990773197 @default.
• W1990773197 citedByCount "45" @default.
• W1990773197 countsByYear W19907731972012 @default.
• W1990773197 countsByYear W19907731972013 @default.
• W1990773197 countsByYear W19907731972014 @default.
• W1990773197 countsByYear W19907731972015 @default.
• W1990773197 countsByYear W19907731972016 @default.
• W1990773197 countsByYear W19907731972017 @default.
• W1990773197 countsByYear W19907731972018 @default.
• W1990773197 countsByYear W19907731972019 @default.
• W1990773197 countsByYear W19907731972020 @default.
• W1990773197 countsByYear W19907731972021 @default.
• W1990773197 countsByYear W19907731972022 @default.
• W1990773197 countsByYear W19907731972023 @default.
• W1990773197 crossrefType "journal-article" @default.
• W1990773197 hasAuthorship W1990773197A5022564838 @default.
• W1990773197 hasAuthorship W1990773197A5031435504 @default.

• next