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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

169 related articles for article (PubMed ID: 24564666)

  • 1. Nuclear genetic defects of mitochondrial ATP synthase.
    Hejzlarová K; Mráček T; Vrbacký M; Kaplanová V; Karbanová V; Nůsková H; Pecina P; Houštěk J
    Physiol Res; 2014; 63(Suppl 1):S57-71. PubMed ID: 24564666
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.
    Tauchmannová K; Pecinová A; Houštěk J; Mráček T
    Physiol Res; 2024 Aug; 73(Suppl 1):S243-S278. PubMed ID: 39016153
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.
    Mayr JA; Havlícková V; Zimmermann F; Magler I; Kaplanová V; Jesina P; Pecinová A; Nusková H; Koch J; Sperl W; Houstek J
    Hum Mol Genet; 2010 Sep; 19(17):3430-9. PubMed ID: 20566710
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice.
    Vrbacký M; Kovalčíková J; Chawengsaksophak K; Beck IM; Mráček T; Nůsková H; Sedmera D; Papoušek F; Kolář F; Sobol M; Hozák P; Sedlacek R; Houštěk J
    Hum Mol Genet; 2016 Nov; 25(21):4674-4685. PubMed ID: 28173120
    [TBL] [Abstract][Full Text] [Related]  

  • 5. ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.
    Braczynski AK; Vlaho S; Müller K; Wittig I; Blank AE; Tews DS; Drott U; Kleinle S; Abicht A; Horvath R; Plate KH; Stenzel W; Goebel HH; Schulze A; Harter PN; Kieslich M; Mittelbronn M
    Biomed Res Int; 2015; 2015():462592. PubMed ID: 26550569
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Deficiency of mitochondrial ATP synthase of nuclear genetic origin.
    Sperl W; Jesina P; Zeman J; Mayr JA; Demeirleir L; VanCoster R; Pícková A; Hansíková H; Houst'ková H; Krejcík Z; Koch J; Smet J; Muss W; Holme E; Houstek J
    Neuromuscul Disord; 2006 Dec; 16(12):821-9. PubMed ID: 17052906
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mitochondrial diseases and genetic defects of ATP synthase.
    Houstek J; Pícková A; Vojtísková A; Mrácek T; Pecina P; Jesina P
    Biochim Biophys Acta; 2006; 1757(9-10):1400-5. PubMed ID: 16730639
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation.
    Havlíčková Karbanová V; Cížková Vrbacká A; Hejzlarová K; Nůsková H; Stránecký V; Potocká A; Kmoch S; Houštěk J
    Biochim Biophys Acta; 2012 Jul; 1817(7):1037-43. PubMed ID: 22433607
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Characterization of Drosophila ATPsynC mutants as a new model of mitochondrial ATP synthase disorders.
    Lovero D; Giordano L; Marsano RM; Sanchez-Martinez A; Boukhatmi H; Drechsler M; Oliva M; Whitworth AJ; Porcelli D; Caggese C
    PLoS One; 2018; 13(8):e0201811. PubMed ID: 30096161
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Hereditary disorders of mitochondrial ATP synthase].
    Houstĕk J; Zeman J
    Cas Lek Cesk; 2004; 143(8):517-20. PubMed ID: 15446454
    [TBL] [Abstract][Full Text] [Related]  

  • 11. TMEM70 protein - a novel ancillary factor of mammalian ATP synthase.
    Houstek J; Kmoch S; Zeman J
    Biochim Biophys Acta; 2009 May; 1787(5):529-32. PubMed ID: 19103153
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.
    Cízková A; Stránecký V; Ivánek R; Hartmannová H; Nosková L; Piherová L; Tesarová M; Hansíková H; Honzík T; Zeman J; Divina P; Potocká A; Paul J; Sperl W; Mayr JA; Seneca S; Houstĕk J; Kmoch S
    BMC Genomics; 2008 Jan; 9():38. PubMed ID: 18221507
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mitochondrial ATP synthase disorders: molecular mechanisms and the quest for curative therapeutic approaches.
    Kucharczyk R; Zick M; Bietenhader M; Rak M; Couplan E; Blondel M; Caubet SD; di Rago JP
    Biochim Biophys Acta; 2009 Jan; 1793(1):186-99. PubMed ID: 18620007
    [TBL] [Abstract][Full Text] [Related]  

  • 14. TMEM70 facilitates biogenesis of mammalian ATP synthase by promoting subunit c incorporation into the rotor structure of the enzyme.
    Kovalčíkova J; Vrbacký M; Pecina P; Tauchmannová K; Nůsková H; Kaplanová V; Brázdová A; Alán L; Eliáš J; Čunátová K; Kořínek V; Sedlacek R; Mráček T; Houštěk J
    FASEB J; 2019 Dec; 33(12):14103-14117. PubMed ID: 31652072
    [TBL] [Abstract][Full Text] [Related]  

  • 15. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
    Cízková A; Stránecký V; Mayr JA; Tesarová M; Havlícková V; Paul J; Ivánek R; Kuss AW; Hansíková H; Kaplanová V; Vrbacký M; Hartmannová H; Nosková L; Honzík T; Drahota Z; Magner M; Hejzlarová K; Sperl W; Zeman J; Houstek J; Kmoch S
    Nat Genet; 2008 Nov; 40(11):1288-90. PubMed ID: 18953340
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Mitochondrial disorders associated with mitochondrial respiratory chain complex V deficiency].
    Li XY; Yang YL
    Zhongguo Dang Dai Er Ke Za Zhi; 2013 Jul; 15(7):596-600. PubMed ID: 23866288
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
    Zech M; Kopajtich R; Steinbrücker K; Bris C; Gueguen N; Feichtinger RG; Achleitner MT; Duzkale N; Périvier M; Koch J; Engelhardt H; Freisinger P; Wagner M; Brunet T; Berutti R; Smirnov D; Navaratnarajah T; Rodenburg RJT; Pais LS; Austin-Tse C; O'Leary M; Boesch S; Jech R; Bakhtiari S; Jin SC; Wilbert F; Kruer MC; Wortmann SB; Eckenweiler M; Mayr JA; Distelmaier F; Steinfeld R; Winkelmann J; Prokisch H
    Ann Neurol; 2022 Feb; 91(2):225-237. PubMed ID: 34954817
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Molecular bases of diseases caused by mutations in genes encoding subunits of ATP synthase].
    Baranowska E; Rytka J; Kucharczyk R
    Postepy Biochem; 2018 Dec; 64(4):304-317. PubMed ID: 30656915
    [TBL] [Abstract][Full Text] [Related]  

  • 19. TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I.
    Carroll J; He J; Ding S; Fearnley IM; Walker JE
    Proc Natl Acad Sci U S A; 2021 Mar; 118(13):. PubMed ID: 33753518
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Pathogenesis of primary defects in mitochondrial ATP synthesis.
    Schon EA; Santra S; Pallotti F; Girvin ME
    Semin Cell Dev Biol; 2001 Dec; 12(6):441-8. PubMed ID: 11735378
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.