BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 22986587)

  • 1. TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.
    Torraco A; Verrigni D; Rizza T; Meschini MC; Vazquez-Memije ME; Martinelli D; Bianchi M; Piemonte F; Dionisi-Vici C; Santorelli FM; Bertini E; Carrozzo R
    Neurogenetics; 2012 Nov; 13(4):375-86. PubMed ID: 22986587
    [TBL] [Abstract][Full Text] [Related]  

  • 2. TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.
    Spiegel R; Khayat M; Shalev SA; Horovitz Y; Mandel H; Hershkovitz E; Barghuti F; Shaag A; Saada A; Korman SH; Elpeleg O; Yatsiv I
    J Med Genet; 2011 Mar; 48(3):177-82. PubMed ID: 21147908
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.
    Catteruccia M; Verrigni D; Martinelli D; Torraco A; Agovino T; Bonafé L; D'Amico A; Donati MA; Adorisio R; Santorelli FM; Carrozzo R; Bertini E; Dionisi-Vici C
    Mol Genet Metab; 2014 Mar; 111(3):353-359. PubMed ID: 24485043
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70.
    Shchelochkov OA; Li FY; Wang J; Zhan H; Towbin JA; Jefferies JL; Wong LJ; Scaglia F
    Mol Genet Metab; 2010; 101(2-3):282-5. PubMed ID: 20728387
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. TMEM70 deficiency: long-term outcome of 48 patients.
    Magner M; Dvorakova V; Tesarova M; Mazurova S; Hansikova H; Zahorec M; Brennerova K; Bzduch V; Spiegel R; Horovitz Y; Mandel H; Eminoğlu FT; Mayr JA; Koch J; Martinelli D; Bertini E; Konstantopoulou V; Smet J; Rahman S; Broomfield A; Stojanović V; Dionisi-Vici C; van Coster R; Morava E; Sperl W; Zeman J; Honzik T
    J Inherit Metab Dis; 2015 May; 38(3):417-26. PubMed ID: 25326274
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. TMEM70 forms oligomeric scaffolds within mitochondrial cristae promoting in situ assembly of mammalian ATP synthase proton channel.
    Bahri H; Buratto J; Rojo M; Dompierre JP; Salin B; Blancard C; Cuvellier S; Rose M; Ben Ammar Elgaaied A; Tetaud E; di Rago JP; Devin A; Duvezin-Caubet S
    Biochim Biophys Acta Mol Cell Res; 2021 Apr; 1868(4):118942. PubMed ID: 33359711
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Expression and processing of the TMEM70 protein.
    Hejzlarová K; Tesařová M; Vrbacká-Čížková A; Vrbacký M; Hartmannová H; Kaplanová V; Nosková L; Kratochvílová H; Buzková J; Havlíčková V; Zeman J; Kmoch S; Houštěk J
    Biochim Biophys Acta; 2011 Jan; 1807(1):144-9. PubMed ID: 20937241
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.
    Honzík T; Tesarová M; Mayr JA; Hansíková H; Jesina P; Bodamer O; Koch J; Magner M; Freisinger P; Huemer M; Kostková O; van Coster R; Kmoch S; Houstêk J; Sperl W; Zeman J
    Arch Dis Child; 2010 Apr; 95(4):296-301. PubMed ID: 20335238
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria.
    Holme E; Greter J; Jacobson CE; Larsson NG; Lindstedt S; Nilsson KO; Oldfors A; Tulinius M
    Pediatr Res; 1992 Dec; 32(6):731-5. PubMed ID: 1287564
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.
    Cameron JM; Levandovskiy V; Mackay N; Ackerley C; Chitayat D; Raiman J; Halliday WH; Schulze A; Robinson BH
    Mitochondrion; 2011 Jan; 11(1):191-9. PubMed ID: 20920610
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes.
    Stojanović V; Doronjski A
    J Pediatr Endocrinol Metab; 2013; 26(1-2):151-4. PubMed ID: 23382305
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [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]  

    [Next]    [New Search]
    of 10.