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Results: 1 to 20 of 126

1.

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.

PMID:
7647790
[PubMed - indexed for MEDLINE]
2.

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 3;20(17):4794-802.

PMID:
11532943
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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 1;387(Pt 3):773-8.

PMID:
15554876
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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 15;13(20):2519-34. Epub 2004 Aug 18.

PMID:
15317755
[PubMed - indexed for MEDLINE]
Free Article
8.

Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation.

Yasukawa T, Suzuki T, Ishii N, Ueda T, Ohta S, Watanabe K.

FEBS Lett. 2000 Feb 11;467(2-3):175-8.

PMID:
10675533
[PubMed - indexed for MEDLINE]
Free Article
9.

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 24;1271(1):241-8. Review.

PMID:
7599215
[PubMed - indexed for MEDLINE]
10.

Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A-->G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA.

Hanna MG, Nelson IP, Morgan-Hughes JA, Harding AE.

J Neurol Sci. 1995 Jun;130(2):154-60. Erratum in: J Neurol 1995 Sep;132(1):95.

PMID:
8586979
[PubMed - indexed for MEDLINE]
11.

In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.

Masucci JP, Davidson M, Koga Y, Schon EA, King MP.

Mol Cell Biol. 1995 May;15(5):2872-81.

PMID:
7739567
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Distribution and clinical expression of the tRNA(Lys) mutation in mitochondrial DNA in MERRF syndrome.

Huang CC, Chu NS, Shih KD, Pang CY, Wei YH.

J Formos Med Assoc. 1995 Apr;94(4):159-63.

PMID:
7606176
[PubMed - indexed for MEDLINE]
13.

Uniform tissue distribution of tRNA(Lys) mutation in mitochondrial DNA in MERRF patients.

Tanno Y, Yoneda M, Tanaka K, Kondo R, Hozumi I, Wakabayashi K, Yamada M, Fukuhara N, Ikuta F, Tsuji S.

Neurology. 1993 Jun;43(6):1198-200.

PMID:
8170566
[PubMed - indexed for MEDLINE]
14.

Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations.

James AM, Wei YH, Pang CY, Murphy MP.

Biochem J. 1996 Sep 1;318 ( Pt 2):401-7.

PMID:
8809026
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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.

PMID:
15965049
[PubMed - indexed for MEDLINE]
16.

Heteroplasmic mitochondrial tRNA(Lys) mutation and its complementation in MERRF patient-derived mitochondrial transformants.

Yoneda M, Miyatake T, Attardi G.

Muscle Nerve Suppl. 1995;3:S95-101.

PMID:
7603536
[PubMed - indexed for MEDLINE]
17.
18.

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 15;374(Pt 1):131-6.

PMID:
12737626
[PubMed - indexed for MEDLINE]
Free PMC Article
19.
20.

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

Hammans SR, Sweeney MG, Brockington M, Lennox GG, Lawton NF, Kennedy CR, Morgan-Hughes JA, Harding AE.

Brain. 1993 Jun;116 ( Pt 3):617-32.

PMID:
8513395
[PubMed - indexed for MEDLINE]

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