(Q36551176)

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

scientific article published on May 1995

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7739567%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

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

1 reference

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24 October 2019

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24 October 2019

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J P Masucci

1

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24 October 2019

M Davidson

2

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24 October 2019

E A Schon

4

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24 October 2019

M P King

5

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24 October 2019

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1 May 1995

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24 October 2019

Molecular and Cellular Biology

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24 October 2019

15

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24 October 2019

5

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24 October 2019

2872-2881

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24 October 2019

Aminoacyl RNA domain of turnip yellow mosaic virus Val-RNA interacting with elongation factor Tu

1 reference

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30 September 2017

On the directional specificity of ribosome frameshifting at a "hungry" codon

1 reference

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30 September 2017

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

1 reference

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The nucleic acid-binding zinc finger protein of potato virus M is translated by internal initiation as well as by ribosomal frameshifting involving a shifty stop codon and a novel mechanism of P-site slippage

1 reference

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30 September 2017

Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS

1 reference

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30 September 2017

Sequence and organization of the human mitochondrial genome

1 reference

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Isolation and characterization of full-length cDNA clones for human alpha-, beta-, and gamma-actin mRNAs: skeletal but not cytoplasmic actins have an amino-terminal cysteine that is subsequently removed

1 reference

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30 September 2017

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

1 reference

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30 September 2017

Identification of the polypeptides encoded in the ATPase 6 gene and in the unassigned reading frames 1 and 3 of human mtDNA

1 reference

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30 September 2017

Synthesis and turnover of mitochondrial ribonucleic acid in HeLa cells: the mature ribosomal and messenger ribonucleic acid species are metabolically unstable

1 reference

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30 September 2017

A new transfer RNA fragment reaction: Tp psi pCpGp bound to a ribosome-messenger RNA complex induces the synthesis of guanosine tetra- and pentaphosphates

1 reference

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30 September 2017

Crosslinking of elongation factor Tu to tRNA(Phe) by trans-diamminedichloroplatinum (II). Characterization of two crosslinking sites in the tRNA.

1 reference

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30 September 2017

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

1 reference

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30 September 2017

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

1 reference

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30 September 2017

Hypervariabflity of simple sequences as a general source for polymorphic DNA markers

1 reference

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30 September 2017

Errors and alternatives in reading the universal genetic code.

1 reference

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30 September 2017

Ribosomal frameshifting from -2 to +50 nucleotides

1 reference

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30 September 2017

The where, what and how of ribosomal frameshifting in retroviral protein synthesis

1 reference

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30 September 2017

Translational frameshifting generates the gamma subunit of DNA polymerase III holoenzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=230518

30 September 2017

A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=230518

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=230518

30 September 2017

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=230518

30 September 2017

A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=230518

30 September 2017

Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=230518

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=230518

30 September 2017

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=230518

30 September 2017

Uncharged tRNA, protein synthesis, and the bacterial stringent response

1 reference

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30 September 2017

Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=230518

30 September 2017

A second-generation linkage map of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=230518

30 September 2017

A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=230518

30 September 2017

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)

1 reference

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30 September 2017

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

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RNA molecular weight determinations by gel electrophoresis under denaturing conditions, a critical reexamination

1 reference

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30 September 2017

Regulation of mitochondrial ribosomal RNA synthesis in yeast. II. Effects of temperature sensitive mutants defective in cytoplasmic protein synthesis

1 reference

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30 September 2017

Regulation of mitochondrial ribosomal RNA synthesis in yeast. I. In search of a relaxation of stringency

1 reference

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30 September 2017

Molecular analysis of cloned human 18S ribosomal DNA segments

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Rat Insulin Genes: Construction of Plasmids Containing the Coding Sequences

1 reference

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Transfer RNA: Molecular Structure, Sequence, and Properties

1 reference

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30 September 2017

Post-transcriptional regulation of the steady-state levels of mitochondrial tRNAs in HeLa cells

1 reference

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28 June 2018

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

1 reference

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The involvement of 5S RNA in the binding of tRNA to ribosomes

1 reference

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1 reference

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28 June 2018

Signals for ribosomal frameshifting in the Rous sarcoma virus gag-pol region

1 reference

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28 June 2018

Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome

1 reference

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Cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence for a nuclear DNA-encoded mutation.

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28 June 2018

Characterization of ribosomal frameshifting in HIV-1 gag-pol expression

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Expression of the Rous sarcoma virus pol gene by ribosomal frameshifting

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28 June 2018

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

1 reference

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21 September 2018

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1 reference

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21 September 2018

On the mechanism of ribosomal frameshifting at hungry codons

1 reference

https://pubmed.ncbi.nlm.nih.gov/7739567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ribosomal frameshifting in the yeast retrotransposon Ty: tRNAs induce slippage on a 7 nucleotide minimal site

1 reference

https://pubmed.ncbi.nlm.nih.gov/7739567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Translational frameshifting: where will it stop?

1 reference

https://pubmed.ncbi.nlm.nih.gov/7739567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A study of the interaction of Escherichia coli elongation factor-Tu with aminoacyl-tRNAs by partial digestion with cobra venom ribonuclease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7739567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical spectrum of mitochondrial DNA mutation at base pair 8344

1 reference

https://pubmed.ncbi.nlm.nih.gov/7739567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloned mycoplasma ribosomal RNA genes for the detection of mycoplasma contamination in tissue cultures

1 reference

https://pubmed.ncbi.nlm.nih.gov/7739567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA expression in mitochondrial myopathies and coordinated expression of nuclear genes involved in ATP production

1 reference

https://pubmed.ncbi.nlm.nih.gov/7739567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/7739567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leftward ribosome frameshifting at a hungry codon

1 reference

https://pubmed.ncbi.nlm.nih.gov/7739567

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1128/MCB.15.5.2872

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7739567%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7739567%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7739567%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

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