BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

303 related articles for article (PubMed ID: 19812251)

  • 1. A mutation associated with CMT2A neuropathy causes defects in Fzo1 GTP hydrolysis, ubiquitylation, and protein turnover.
    Amiott EA; Cohen MM; Saint-Georges Y; Weissman AM; Shaw JM
    Mol Biol Cell; 2009 Dec; 20(23):5026-35. PubMed ID: 19812251
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mitochondrial Dysfunction and Pharmacodynamics of Mitofusin Activation in Murine Charcot-Marie-Tooth Disease Type 2A.
    Franco A; Dang X; Zhang L; Molinoff PB; Dorn GW
    J Pharmacol Exp Ther; 2022 Nov; 383(2):137-148. PubMed ID: 36507849
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Ugo1 and Mdm30 act sequentially during Fzo1-mediated mitochondrial outer membrane fusion.
    Anton F; Fres JM; Schauss A; Pinson B; Praefcke GJ; Langer T; Escobar-Henriques M
    J Cell Sci; 2011 Apr; 124(Pt 7):1126-35. PubMed ID: 21385840
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Sequential requirements for the GTPase domain of the mitofusin Fzo1 and the ubiquitin ligase SCFMdm30 in mitochondrial outer membrane fusion.
    Cohen MM; Amiott EA; Day AR; Leboucher GP; Pryce EN; Glickman MH; McCaffery JM; Shaw JM; Weissman AM
    J Cell Sci; 2011 May; 124(Pt 9):1403-10. PubMed ID: 21502136
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations.
    Amiott EA; Lott P; Soto J; Kang PB; McCaffery JM; DiMauro S; Abel ED; Flanigan KM; Lawson VH; Shaw JM
    Exp Neurol; 2008 May; 211(1):115-27. PubMed ID: 18316077
    [TBL] [Abstract][Full Text] [Related]  

  • 6. MITOL-mediated DRP1 ubiquitylation and degradation promotes mitochondrial hyperfusion in a CMT2A-linked MFN2 mutant.
    Das R; Kamal IM; Das S; Chakrabarti S; Chakrabarti O
    J Cell Sci; 2022 Jan; 135(2):. PubMed ID: 34870686
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A.
    Franco A; Dang X; Walton EK; Ho JN; Zablocka B; Ly C; Miller TM; Baloh RH; Shy ME; Yoo AS; Dorn GW
    Elife; 2020 Oct; 9():. PubMed ID: 33074106
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Structural insights of human mitofusin-2 into mitochondrial fusion and CMT2A onset.
    Li YJ; Cao YL; Feng JX; Qi Y; Meng S; Yang JF; Zhong YT; Kang S; Chen X; Lan L; Luo L; Yu B; Chen S; Chan DC; Hu J; Gao S
    Nat Commun; 2019 Oct; 10(1):4914. PubMed ID: 31664033
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Dual role of a GTPase conformational switch for membrane fusion by mitofusin ubiquitylation.
    Schuster R; Anton V; Simões T; Altin S; den Brave F; Hermanns T; Hospenthal M; Komander D; Dittmar G; Dohmen RJ; Escobar-Henriques M
    Life Sci Alliance; 2020 Jan; 3(1):. PubMed ID: 31857350
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A.
    Cartoni R; Martinou JC
    Exp Neurol; 2009 Aug; 218(2):268-73. PubMed ID: 19427854
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Plasticity in salt bridge allows fusion-competent ubiquitylation of mitofusins and Cdc48 recognition.
    Anton V; Buntenbroich I; Schuster R; Babatz F; Simões T; Altin S; Calabrese G; Riemer J; Schauss A; Escobar-Henriques M
    Life Sci Alliance; 2019 Dec; 2(6):. PubMed ID: 31740565
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A human mitofusin 2 mutation can cause mitophagic cardiomyopathy.
    Franco A; Li J; Kelly DP; Hershberger RE; Marian AJ; Lewis RM; Song M; Dang X; Schmidt AD; Mathyer ME; Edwards JR; Strong CG; Dorn GW
    Elife; 2023 Nov; 12():. PubMed ID: 37910431
    [TBL] [Abstract][Full Text] [Related]  

  • 13. MFN2 mutations cause severe phenotypes in most patients with CMT2A.
    Feely SM; Laura M; Siskind CE; Sottile S; Davis M; Gibbons VS; Reilly MM; Shy ME
    Neurology; 2011 May; 76(20):1690-6. PubMed ID: 21508331
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A.
    Lv H; Wang L; Zhang W; Wang Z; Zuo Y; Liu J; Yuan Y
    J Neurol Sci; 2015 Nov; 358(1-2):153-7. PubMed ID: 26382835
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Torin1 restores proliferation rate in Charcot-Marie-Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation.
    Zanfardino P; Amati A; Petracca EA; Santorelli FM; Petruzzella V
    Acta Myol; 2022; 41(4):201-206. PubMed ID: 36793649
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mitofusin 1 overexpression rescues the abnormal mitochondrial dynamics caused by the Mitofusin 2 K357T mutation in vitro.
    Stavropoulos F; Georgiou E; Schiza N; Bell S; Baloh RH; Kleopa KA; Sargiannidou I
    J Peripher Nerv Syst; 2023 Sep; 28(3):329-340. PubMed ID: 37220142
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Charcot-Marie-Tooth type 2A in vivo models: Current updates.
    Abati E; Rizzuti M; Anastasia A; Comi GP; Corti S; Rizzo F
    J Cell Mol Med; 2024 May; 28(9):e18293. PubMed ID: 38722298
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient.
    Beręsewicz M; Boratyńska-Jasińska A; Charzewski Ł; Kawalec M; Kabzińska D; Kochański A; Krzyśko KA; Zabłocka B
    PLoS One; 2017; 12(1):e0169999. PubMed ID: 28076385
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations.
    Detmer SA; Chan DC
    J Cell Biol; 2007 Feb; 176(4):405-14. PubMed ID: 17296794
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.
    Codron P; Chevrollier A; Kane MS; Echaniz-Laguna A; Latour P; Reynier P; Bonneau D; Verny C; Procaccio V; Lenaers G; Cassereau J
    J Peripher Nerv Syst; 2016 Dec; 21(4):365-369. PubMed ID: 27706887
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.