These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
215 related articles for article (PubMed ID: 23082224)
1. Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia. Xia H; Cao Y; Dai X; Marelja Z; Zhou D; Mo R; Al-Mahdawi S; Pook MA; Leimkühler S; Rouault TA; Li K PLoS One; 2012; 7(10):e47847. PubMed ID: 23082224 [TBL] [Abstract][Full Text] [Related]
2. Normal and Friedreich ataxia cells express different isoforms of frataxin with complementary roles in iron-sulfur cluster assembly. Gakh O; Bedekovics T; Duncan SF; Smith DY; Berkholz DS; Isaya G J Biol Chem; 2010 Dec; 285(49):38486-501. PubMed ID: 20889968 [TBL] [Abstract][Full Text] [Related]
3. Missense mutations linked to friedreich ataxia have different but synergistic effects on mitochondrial frataxin isoforms. Li H; Gakh O; Smith DY; Ranatunga WK; Isaya G J Biol Chem; 2013 Feb; 288(6):4116-27. PubMed ID: 23269675 [TBL] [Abstract][Full Text] [Related]
4. Effect of Mitochondrial and Cytosolic FXN Isoform Expression on Mitochondrial Dynamics and Metabolism. Agrò M; Díaz-Nido J Int J Mol Sci; 2020 Nov; 21(21):. PubMed ID: 33158039 [TBL] [Abstract][Full Text] [Related]
5. Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus. Al-Mahdawi S; Sandi C; Mouro Pinto R; Pook MA PLoS One; 2013; 8(9):e74956. PubMed ID: 24023969 [TBL] [Abstract][Full Text] [Related]
6. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Rötig A; de Lonlay P; Chretien D; Foury F; Koenig M; Sidi D; Munnich A; Rustin P Nat Genet; 1997 Oct; 17(2):215-7. PubMed ID: 9326946 [TBL] [Abstract][Full Text] [Related]
7. Structure-function analysis of Friedreich's ataxia mutants reveals determinants of frataxin binding and activation of the Fe-S assembly complex. Bridwell-Rabb J; Winn AM; Barondeau DP Biochemistry; 2011 Aug; 50(33):7265-74. PubMed ID: 21776984 [TBL] [Abstract][Full Text] [Related]
8. Frataxin mRNA isoforms in FRDA patients and normal subjects: effect of tocotrienol supplementation. Abruzzo PM; Marini M; Bolotta A; Malisardi G; Manfredini S; Ghezzo A; Pini A; Tasco G; Casadio R Biomed Res Int; 2013; 2013():276808. PubMed ID: 24175286 [TBL] [Abstract][Full Text] [Related]
9. GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich ataxia cellular models. Dong YN; McMillan E; Clark EM; Lin H; Lynch DR Hum Mol Genet; 2019 May; 28(10):1594-1607. PubMed ID: 30590615 [TBL] [Abstract][Full Text] [Related]
10. DNA methylation in Friedreich ataxia silences expression of frataxin isoform E. Rodden LN; Gilliam KM; Lam C; Rojsajjakul T; Mesaros C; Dionisi C; Pook M; Pandolfo M; Lynch DR; Blair IA; Bidichandani SI Sci Rep; 2022 Mar; 12(1):5031. PubMed ID: 35322126 [TBL] [Abstract][Full Text] [Related]
11. Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia. Igoillo-Esteve M; Oliveira AF; Cosentino C; Fantuzzi F; Demarez C; Toivonen S; Hu A; Chintawar S; Lopes M; Pachera N; Cai Y; Abdulkarim B; Rai M; Marselli L; Marchetti P; Tariq M; Jonas JC; Boscolo M; Pandolfo M; Eizirik DL; Cnop M JCI Insight; 2020 Jan; 5(2):. PubMed ID: 31877117 [TBL] [Abstract][Full Text] [Related]
12. The in vivo mitochondrial two-step maturation of human frataxin. Schmucker S; Argentini M; Carelle-Calmels N; Martelli A; Puccio H Hum Mol Genet; 2008 Nov; 17(22):3521-31. PubMed ID: 18725397 [TBL] [Abstract][Full Text] [Related]
13. Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain. Doni D; Cavion F; Bortolus M; Baschiera E; Muccioli S; Tombesi G; d'Ettorre F; Ottaviani D; Marchesan E; Leanza L; Greggio E; Ziviani E; Russo A; Bellin M; Sartori G; Carbonera D; Salviati L; Costantini P Cell Death Dis; 2023 Dec; 14(12):805. PubMed ID: 38062036 [TBL] [Abstract][Full Text] [Related]
14. Friedreich ataxia: an update on animal models, frataxin function and therapies. González-Cabo P; Llorens JV; Palau F; Moltó MD Adv Exp Med Biol; 2009; 652():247-61. PubMed ID: 20225031 [TBL] [Abstract][Full Text] [Related]
15. Interplay of FXN expression and lipolysis in white adipocytes plays a critical role in insulin sensitivity in Friedreich's ataxia mouse model. Wu L; Huang F; Yang L; Yang L; Sun Z; Zhang J; Xia S; Zhao H; Ding Y; Bian D; Li K Sci Rep; 2024 Aug; 14(1):19876. PubMed ID: 39191875 [TBL] [Abstract][Full Text] [Related]
16. Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations. Medina-Carbonero M; Sanz-Alcázar A; Britti E; Delaspre F; Cabiscol E; Ros J; Tamarit J Cell Mol Life Sci; 2022 Jan; 79(2):74. PubMed ID: 35038030 [TBL] [Abstract][Full Text] [Related]
17. Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia. Evans-Galea MV; Lockhart PJ; Galea CA; Hannan AJ; Delatycki MB Discov Med; 2014 Jan; 17(91):25-35. PubMed ID: 24411698 [TBL] [Abstract][Full Text] [Related]