293 related articles for article (PubMed ID: 15554876)
1. Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene.
Bornstein B; Mas JA; Patrono C; Fernández-Moreno MA; González-Vioque E; Campos Y; Carrozzo R; Martín MA; del Hoyo P; Santorelli FM; Arenas J; Garesse R
Biochem J; 2005 May; 387(Pt 3):773-8. PubMed ID: 15554876
[TBL] [Abstract][Full Text] [Related]
2. A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers.
Arenas J; Campos Y; Bornstein B; Ribacoba R; Martín MA; Rubio JC; Santorelli FM; Zeviani M; DiMauro S; Garesse R
Neurology; 1999 Jan; 52(2):377-82. PubMed ID: 9932960
[TBL] [Abstract][Full Text] [Related]
3. MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination.
Enriquez JA; Chomyn A; Attardi G
Nat Genet; 1995 May; 10(1):47-55. PubMed ID: 7647790
[TBL] [Abstract][Full Text] [Related]
4. The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines.
Bornstein B; Mas JA; Fernández-Moreno MA; Campos Y; Martín MA; del Hoyo P; Rubio JC; Arenas J; Garesse R
Hum Mutat; 2002 Mar; 19(3):234-9. PubMed ID: 11857739
[TBL] [Abstract][Full Text] [Related]
5. Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease.
Yasukawa T; Suzuki T; Ishii N; Ohta S; Watanabe K
EMBO J; 2001 Sep; 20(17):4794-802. PubMed ID: 11532943
[TBL] [Abstract][Full Text] [Related]
6. A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations.
Möllers M; Maniura-Weber K; Kiseljakovic E; Bust M; Hayrapetyan A; Jaksch M; Helm M; Wiesner RJ; von Kleist-Retzow JC
Nucleic Acids Res; 2005; 33(17):5647-58. PubMed ID: 16199753
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study.
Virgilio R; Ronchi D; Bordoni A; Fassone E; Bonato S; Donadoni C; Torgano G; Moggio M; Corti S; Bresolin N; Comi GP
J Neurol Sci; 2009 Jun; 281(1-2):85-92. PubMed ID: 19278689
[TBL] [Abstract][Full Text] [Related]
9. Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy.
Mariotti C; Tiranti V; Carrara F; Dallapiccola B; DiDonato S; Zeviani M
J Clin Invest; 1994 Mar; 93(3):1102-7. PubMed ID: 8132749
[TBL] [Abstract][Full Text] [Related]
10. Aminoacylation properties of pathology-related human mitochondrial tRNA(Lys) variants.
Sissler M; Helm M; Frugier M; Giege R; Florentz C
RNA; 2004 May; 10(5):841-53. PubMed ID: 15100439
[TBL] [Abstract][Full Text] [Related]
11. Enhanced ROS production and antioxidant defenses in cybrids harbouring mutations in mtDNA.
Vives-Bauza C; Gonzalo R; Manfredi G; Garcia-Arumi E; Andreu AL
Neurosci Lett; 2006 Jan; 391(3):136-41. PubMed ID: 16165271
[TBL] [Abstract][Full Text] [Related]
12. Altered expression of master regulatory genes of adipogenesis in lipomas from patients bearing tRNA(Lys) point mutations in mitochondrial DNA.
Guallar JP; Vilà MR; López-Gallardo E; Solano A; Domingo JC; Gámez J; Pineda M; Capablo JL; Domingo P; Andreu AL; Montoya J; Giralt M; Villarroya F
Mol Genet Metab; 2006 Nov; 89(3):283-5. PubMed ID: 16603396
[TBL] [Abstract][Full Text] [Related]
13. Biochemical characterization of the deafness-associated mitochondrial tRNASer(UCN) A7445G mutation in osteosarcoma cell cybrids.
Li X; Zhang LS; Fischel-Ghodsian N; Guan MX
Biochem Biophys Res Commun; 2005 Mar; 328(2):491-8. PubMed ID: 15694374
[TBL] [Abstract][Full Text] [Related]
14. [Molecular genetic analysis for myoclonus epilepsy associated with ragged-red fibers (MERRF)].
Tanno Y; Yoneda M; Tanaka K; Tsuji S
Nihon Rinsho; 1993 Sep; 51(9):2379-85. PubMed ID: 8411716
[TBL] [Abstract][Full Text] [Related]
15. Decreased mitochondrial tRNALys steady-state levels and aminoacylation are associated with the pathogenic G8313A mitochondrial DNA mutation.
Bacman SR; Atencio DP; Moraes CT
Biochem J; 2003 Aug; 374(Pt 1):131-6. PubMed ID: 12737626
[TBL] [Abstract][Full Text] [Related]
16. The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation.
Park H; Davidson E; King MP
Biochemistry; 2003 Feb; 42(4):958-64. PubMed ID: 12549915
[TBL] [Abstract][Full Text] [Related]
17. Distinct nuclear gene expression profiles in cells with mtDNA depletion and homoplasmic A3243G mutation.
Jahangir Tafrechi RS; Svensson PJ; Janssen GM; Szuhai K; Maassen JA; Raap AK
Mutat Res; 2005 Oct; 578(1-2):43-52. PubMed ID: 16202796
[TBL] [Abstract][Full Text] [Related]
18. An A8296G mutation in the MT-TK gene of a patient with epilepsy - a disease-causing mutation or rare polymorphism?
Ahadi AM; Sadeghizadeh M; Houshmand M; Gharagoozli K; Banoei MM; Panahai MS
Neurol Neurochir Pol; 2008; 42(3):263-6. PubMed ID: 18651333
[TBL] [Abstract][Full Text] [Related]
19. Functional delivery of a cytosolic tRNA into mutant mitochondria of human cells.
Mahata B; Mukherjee S; Mishra S; Bandyopadhyay A; Adhya S
Science; 2006 Oct; 314(5798):471-4. PubMed ID: 17053148
[TBL] [Abstract][Full Text] [Related]
20. Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia.
Kornblum C; Zsurka G; Wiesner RJ; Schröder R; Kunz WS
Biosci Rep; 2008 Apr; 28(2):89-96. PubMed ID: 18384291
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
