Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNAlys mutation in individual neuronal isolates. (Q46607163)

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scientific article published in October 1997

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English	Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNAlys mutation in individual neuronal isolates.	scientific article published in October 1997

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scholarly article

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6 November 2019

Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNAlys mutation in individual neuronal isolates (English)

1 reference

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6 November 2019

myoclonic epilepsy

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inferred from title

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author name string

L Zhou

1

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6 November 2019

A Chomyn

2

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6 November 2019

G Attardi

3

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6 November 2019

C A Miller

4

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6 November 2019

language of work or name

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publication date

1 October 1997

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6 November 2019

Journal of Neuroscience

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6 November 2019

17

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20

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6 November 2019

7746-7753

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6 November 2019

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myoclonic epilepsy with ragged-red fibers (MERRF): an immunohistochemical study of the brain

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https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

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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.

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https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

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MERRF syndrome with overwhelming lactic acidosis

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https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In situ PCR: pathologist's dream or nightmare?

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MERRF: a model disease for understanding the principles of mitochondrial genetics

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

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Sequence and organization of the human mitochondrial genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

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AMPA receptor subunits expressed by single Purkinje cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial dysfunction is a primary event in glutamate neurotoxicity

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The threshold and neuropathology of cerebral "anoxic-ischemic" cell change.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

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Expression of the apoptosis-mediator Fas is enhanced by dysfunctional mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Simple detection of tRNALys mutation in myoclonus epilepsy associated with ragged-red fibers (MERRF) by polymerase chain reaction with a mismatched primer

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in MERRF syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Embryonic neuronal markers in tuberous sclerosis: single-cell molecular pathology

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Stimulus-induced coordinate changes in mRNA abundance in single postsynaptic hippocampal CA1 neurons

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9315896

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1523/JNEUROSCI.17-20-07746.1997

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9315896%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9315896%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9315896%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

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