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551 related items for PubMed ID: 21551238

  • 21. Melas with point mutations involving tRNALeu (A3243G) and tRNAGlu(A14693g).
    Tzen CY, Thajeb P, Wu TY, Chen SC.
    Muscle Nerve; 2003 Nov; 28(5):575-81. PubMed ID: 14571459
    [Abstract] [Full Text] [Related]

  • 22. Recovery of MERRF fibroblasts and cybrids pathophysiology by coenzyme Q10.
    De la Mata M, Garrido-Maraver J, Cotán D, Cordero MD, Oropesa-Ávila M, Izquierdo LG, De Miguel M, Lorite JB, Infante ER, Ybot P, Jackson S, Sánchez-Alcázar JA.
    Neurotherapeutics; 2012 Apr; 9(2):446-63. PubMed ID: 22354625
    [Abstract] [Full Text] [Related]

  • 23. Decreased heat shock protein 27 expression and altered autophagy in human cells harboring A8344G mitochondrial DNA mutation.
    Chen CY, Chen HF, Gi SJ, Chi TH, Cheng CK, Hsu CF, Ma YS, Wei YH, Liu CS, Hsieh M.
    Mitochondrion; 2011 Sep; 11(5):739-49. PubMed ID: 21679777
    [Abstract] [Full Text] [Related]

  • 24. Functional mitochondrial heterogeneity in heteroplasmic cells carrying the mitochondrial DNA mutation associated with the MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes).
    Bakker A, Barthélémy C, Frachon P, Chateau D, Sternberg D, Mazat JP, Lombès A.
    Pediatr Res; 2000 Aug; 48(2):143-50. PubMed ID: 10926287
    [Abstract] [Full Text] [Related]

  • 25. MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.
    Nakamura M, Yabe I, Sudo A, Hosoki K, Yaguchi H, Saitoh S, Sasaki H.
    J Med Genet; 2010 Oct; 47(10):659-64. PubMed ID: 20610441
    [Abstract] [Full Text] [Related]

  • 26. Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNA(LEU(UUR)) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).
    Suzuki S, Hinokio Y, Hirai S, Onoda M, Matsumoto M, Ohtomo M, Kawasaki H, Satoh Y, Akai H, Abe K.
    Diabetologia; 1994 Aug; 37(8):818-25. PubMed ID: 7988784
    [Abstract] [Full Text] [Related]

  • 27. The MELAS mutation m.3243A>G alters the expression of mitochondrial tRNA fragments.
    Meseguer S, Navarro-González C, Panadero J, Villarroya M, Boutoual R, Sánchez-Alcázar JA, Armengod ME.
    Biochim Biophys Acta Mol Cell Res; 2019 Sep; 1866(9):1433-1449. PubMed ID: 31195049
    [Abstract] [Full Text] [Related]

  • 28. Effect of IGF-1 on the balance between autophagy of dysfunctional mitochondria and apoptosis.
    Gu Y, Wang C, Cohen A.
    FEBS Lett; 2004 Nov 19; 577(3):357-60. PubMed ID: 15556609
    [Abstract] [Full Text] [Related]

  • 29. Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease.
    de la Mata M, Cotán D, Oropesa-Ávila M, Garrido-Maraver J, Cordero MD, Villanueva Paz M, Delgado Pavón A, Alcocer-Gómez E, de Lavera I, Ybot-González P, Paula Zaderenko A, Ortiz Mellet C, García Fernández JM, Sánchez-Alcázar JA.
    Sci Rep; 2015 Jun 05; 5():10903. PubMed ID: 26045184
    [Abstract] [Full Text] [Related]

  • 30. Activation of the mitochondrial protein quality control system and actin cytoskeletal alterations in cells harbouring the MELAS mitochondrial DNA mutation.
    Felk S, Ohrt S, Kussmaul L, Storch A, Gillardon F.
    J Neurol Sci; 2010 Aug 15; 295(1-2):46-52. PubMed ID: 20570288
    [Abstract] [Full Text] [Related]

  • 31. The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.
    Frey S, Geffroy G, Desquiret-Dumas V, Gueguen N, Bris C, Belal S, Amati-Bonneau P, Chevrollier A, Barth M, Henrion D, Lenaers G, Bonneau D, Reynier P, Procaccio V.
    Biochim Biophys Acta Mol Basis Dis; 2017 Jan 15; 1863(1):284-291. PubMed ID: 27815040
    [Abstract] [Full Text] [Related]

  • 32. Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease.
    Kirino Y, Yasukawa T, Ohta S, Akira S, Ishihara K, Watanabe K, Suzuki T.
    Proc Natl Acad Sci U S A; 2004 Oct 19; 101(42):15070-5. PubMed ID: 15477592
    [Abstract] [Full Text] [Related]

  • 33. Accumulation of somatic nucleotide substitutions in mitochondrial DNA associated with the 3243 A-to-G tRNA(leu)(UUR) mutation in encephalomyopathy and cardiomyopathy.
    Kovalenko SA, Tanaka M, Yoneda M, Iakovlev AF, Ozawa T.
    Biochem Biophys Res Commun; 1996 May 15; 222(2):201-7. PubMed ID: 8670183
    [Abstract] [Full Text] [Related]

  • 34. Bulk autophagy, but not mitophagy, is increased in cellular model of mitochondrial disease.
    Morán M, Delmiro A, Blázquez A, Ugalde C, Arenas J, Martín MA.
    Biochim Biophys Acta; 2014 Jul 15; 1842(7):1059-70. PubMed ID: 24704045
    [Abstract] [Full Text] [Related]

  • 35. Pathology of mitochondria in MELAS syndrome: an ultrastructural study.
    Felczak P, Lewandowska E, Stępniak I, Ołdak M, Pollak A, Lechowicz U, Pasennik E, Stępień T, Wierzba-Bobrowicz T.
    Pol J Pathol; 2017 Jul 15; 68(2):173-181. PubMed ID: 29025253
    [Abstract] [Full Text] [Related]

  • 36. [Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with the A3243G mutation of the tRNALeu(UUR) gene of mtDNA in native American haplogroup B2].
    Delgado-Sánchez R, Zárate-Moysen A, Monsalvo-Reyes A, Herrero MD, Ruiz-Pesini E, López-Pérez M, Montoya J, Montiel-Sosa JF.
    Rev Neurol; 2017 Jul 15; 44(1):18-22. PubMed ID: 17199225
    [Abstract] [Full Text] [Related]

  • 37. Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria.
    Karicheva OZ, Kolesnikova OA, Schirtz T, Vysokikh MY, Mager-Heckel AM, Lombès A, Boucheham A, Krasheninnikov IA, Martin RP, Entelis N, Tarassov I.
    Nucleic Acids Res; 2011 Oct 15; 39(18):8173-86. PubMed ID: 21724600
    [Abstract] [Full Text] [Related]

  • 38. Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease.
    Kirino Y, Goto Y, Campos Y, Arenas J, Suzuki T.
    Proc Natl Acad Sci U S A; 2005 May 17; 102(20):7127-32. PubMed ID: 15870203
    [Abstract] [Full Text] [Related]

  • 39. Intracellular cholesterol accumulation and coenzyme Q10 deficiency in Familial Hypercholesterolemia.
    Suárez-Rivero JM, de la Mata M, Pavón AD, Villanueva-Paz M, Povea-Cabello S, Cotán D, Álvarez-Córdoba M, Villalón-García I, Ybot-González P, Salas JJ, Muñiz O, Cordero MD, Sánchez-Alcázar JA.
    Biochim Biophys Acta Mol Basis Dis; 2018 Dec 17; 1864(12):3697-3713. PubMed ID: 30292637
    [Abstract] [Full Text] [Related]

  • 40. Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA.
    Thajeb P, Lee HC, Pang CY, Jeng CM, Huang SF, Wei YH.
    Zhonghua Yi Xue Za Zhi (Taipei); 2000 Jan 17; 63(1):71-6. PubMed ID: 10645055
    [Abstract] [Full Text] [Related]

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