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.
6. Restoration of mitochondrial function through activation of hypomodified tRNAs with pathogenic mutations associated with mitochondrial diseases. Tomoda E; Nagao A; Shirai Y; Asano K; Suzuki T; Battersby BJ; Suzuki T Nucleic Acids Res; 2023 Aug; 51(14):7563-7579. PubMed ID: 36928678 [TBL] [Abstract][Full Text] [Related]
7. Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA. Campos Y; Martin MA; Lorenzo G; Aparicio M; Cabello A; Arenas J Muscle Nerve; 1996 Feb; 19(2):187-90. PubMed ID: 8559168 [TBL] [Abstract][Full Text] [Related]
8. A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. Zeviani M; Muntoni F; Savarese N; Serra G; Tiranti V; Carrara F; Mariotti C; DiDonato S Eur J Hum Genet; 1993; 1(1):80-7. PubMed ID: 8069654 [TBL] [Abstract][Full Text] [Related]
9. Histochemical and molecular genetic study of MELAS and MERRF in Korean patients. Kim DS; Jung DS; Park KH; Kim IJ; Kim CM; Lee WH; Rho SK J Korean Med Sci; 2002 Feb; 17(1):103-12. PubMed ID: 11850598 [TBL] [Abstract][Full Text] [Related]
10. Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy. Houshmand M; Larsson NG; Holme E; Oldfors A; Tulinius MH; Andersen O Biochim Biophys Acta; 1994 Apr; 1226(1):49-55. PubMed ID: 8155739 [TBL] [Abstract][Full Text] [Related]
11. Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells. Kolesnikova OA; Entelis NS; Jacquin-Becker C; Goltzene F; Chrzanowska-Lightowlers ZM; Lightowlers RN; Martin RP; Tarassov I Hum Mol Genet; 2004 Oct; 13(20):2519-34. PubMed ID: 15317755 [TBL] [Abstract][Full Text] [Related]
12. MERRF/MELAS overlap syndrome due to the m.3291T>C mutation. Liu K; Zhao H; Ji K; Yan C Metab Brain Dis; 2014 Mar; 29(1):139-44. PubMed ID: 24338029 [TBL] [Abstract][Full Text] [Related]
13. Secondary coenzyme Q10 deficiency triggers mitochondria degradation by mitophagy in MELAS fibroblasts. Cotán D; Cordero MD; Garrido-Maraver J; Oropesa-Ávila M; Rodríguez-Hernández A; Gómez Izquierdo L; De la Mata M; De Miguel M; Lorite JB; Infante ER; Jackson S; Navas P; Sánchez-Alcázar JA FASEB J; 2011 Aug; 25(8):2669-87. PubMed ID: 21551238 [TBL] [Abstract][Full Text] [Related]
14. High prevalence of the COII/tRNA(Lys) intergenic 9-bp deletion in mitochondrial DNA of Taiwanese patients with MELAS or MERRF syndrome. Liu CS; Cheng WL; Chen YY; Ma YS; Pang CY; Wei YH Ann N Y Acad Sci; 2005 May; 1042():82-7. PubMed ID: 15965049 [TBL] [Abstract][Full Text] [Related]
15. Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243 A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymerase chain reaction. Fan H; Civalier C; Booker JK; Gulley ML; Prior TW; Farber RA J Mol Diagn; 2006 May; 8(2):277-81. PubMed ID: 16645216 [TBL] [Abstract][Full Text] [Related]
16. Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt. Antonická H; Floryk D; Klement P; Stratilová L; Hermanská J; Houstková H; Kalous M; Drahota Z; Zeman J; Houstek J Biochem J; 1999 Sep; 342 Pt 3(Pt 3):537-44. PubMed ID: 10477264 [TBL] [Abstract][Full Text] [Related]
17. Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems. Attardi G; Yoneda M; Chomyn A Biochim Biophys Acta; 1995 May; 1271(1):241-8. PubMed ID: 7599215 [TBL] [Abstract][Full Text] [Related]
18. Detection of known base substitution mutations in human mitochondrial DNA of MERRF and MELAS by biochip technology. Du W; Li W; Chen G; Cao H; Tang H; Tang X; Jin Q; Sun Z; Zhao H; Zhou W; He S; Lv Y; Zhao J; Zhang X Biosens Bioelectron; 2009 Apr; 24(8):2371-6. PubMed ID: 19155171 [TBL] [Abstract][Full Text] [Related]
19. Alteration in the copy number of mitochondrial DNA in leukocytes of patients with mitochondrial encephalomyopathies. Liu CS; Cheng WL; Lee CF; Ma YS; Lin CY; Huang CC; Wei YH Acta Neurol Scand; 2006 May; 113(5):334-41. PubMed ID: 16629770 [TBL] [Abstract][Full Text] [Related]
20. Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome. Campos Y; Garcia-Silva T; Barrionuevo CR; Cabello A; Muley R; Arenas J Pediatr Neurol; 1995 Jul; 13(1):69-72. PubMed ID: 7575854 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]