(Q46099938)

19 December 2017

title

MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination (English)

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19 December 2017

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José Antonio Enríquez

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19 December 2017

author name string

Chomyn A

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19 December 2017

Attardi G

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19 December 2017

language of work or name

English

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publication date

1 May 1995

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19 December 2017

published in

Nature Genetics

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19 December 2017

volume

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19 December 2017

issue

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19 December 2017

page(s)

47-55

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19 December 2017

Diseases of the mitochondrial DNA.

cites work

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Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

21 January 2018

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In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria

21 January 2018

1 reference

Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles

21 January 2018

1 reference

21 January 2018

1 reference

Translational accuracy and the fitness of bacteria

21 January 2018

1 reference

Highly Efficient RNA-Synthesizing System That Uses Isolated Human Mitochondria: New Initiation Events and In Vivo-Like Processing Patterns

21 January 2018

1 reference

Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

21 January 2018

1 reference

7 January 2021

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

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7 January 2021

tRNA punctuation model of RNA processing in human mitochondria

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7 January 2021

Animal mitochondrial DNA: an extreme example of genetic economy

1 reference

7 January 2021

Identification of the polypeptides encoded in the unassigned reading frames 2, 4, 4L, and 5 of human mitochondrial DNA

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7 January 2021

Mitochondrial ribssome in HeLa cells

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7 January 2021

Expression of the mitochondrial genome in HeLa cells. X. Properties of mitochondrial polysomes.

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7 January 2021

Membrane-bound ribosomes in HeLa cells. I. Their proportion to total cell ribosomes and their association with messenger RNA.

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7 January 2021

An operational RNA code for amino acids and possible relationship to genetic code

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7 January 2021

The transfer RNA identity problem: a search for rules

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7 January 2021

Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction

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7 January 2021

Partial sequence analysis of ribosomal RNA from HeLa cells. I. Oligonucleotide pattern of 28 s and 18 s RNA after pancreatic ribonuclease digestion.

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7 January 2021

Amino acid specificity of the transfer RNA species coded for by HeLa cell mitochondrial DNA

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7 January 2021

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts

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7 January 2021

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

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7 January 2021

Identifiers

DOI

10.1038/NG0595-47

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19 December 2017

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19 December 2017