(Q40489976)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15554876%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15554876%20AND%20SRC:MED&resulttype=core&format=json

Miguel Angel Fernández-Moreno

5 January 2020

author

4

1 reference

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5 January 2020

Emiliano Gonzalez-Vioque

5

1 reference

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5 January 2020

Rosalba Carrozzo

7

1 reference

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5 January 2020

Miguel Angel Martín

8

1 reference

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5 January 2020

Joaquín Arenas

11

1 reference

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5 January 2020

Rafael Garesse

12

1 reference

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5 January 2020

Filippo Maria Santorelli

10

object named as

Filippo M Santorelli

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15554876%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

author name string

Belén Bornstein

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15554876%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

José Antonio Mas

2

1 reference

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5 January 2020

Clarice Patrono

3

1 reference

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5 January 2020

Yolanda Campos

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15554876%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Pilar del Hoyo

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15554876%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

language of work or name

English

0 references

publication date

1 May 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15554876%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

number of pages

6

1 reference

inferred from page(s)

published in

Biochemical Journal

1 reference

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5 January 2020

volume

387

1 reference

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5 January 2020

issue

Pt 3

1 reference

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5 January 2020

page(s)

773-778

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15554876%20AND%20SRC:MED&resulttype=core&format=json

Mitochondrial disorders: clinical presentation and diagnostic dilemmas

5 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

Mitochondrial respiratory-chain diseases

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

Decreased mitochondrial tRNALys steady-state levels and aminoacylation are associated with the pathogenic G8313A mitochondrial DNA mutation

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

Animal mitochondrial biogenesis and function: a regulatory cross-talk between two genomes

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don't.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

Mitochondrial respiratory chain disorders I: mitochondrial DNA defects

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR).

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA(Asn).

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

Biogenesis of mitochondria

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

In vivo labeling and analysis of human mitochondrial translation products

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

Analysis of aminoacylation of human mitochondrial tRNAs

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

The mitochondrial tRNA(Leu)(UUR)) mutation in MELAS: a model for pathogenesis

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNA(Lys) gene

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

Mitochondrial tRNALeu isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

Mitochondrial DNA and RNA processing in MELAS.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

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

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1135008

Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes

20 August 2018

1 reference

12 December 2020

A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers

1 reference

12 December 2020

Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family

1 reference

12 December 2020

The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate

1 reference

12 December 2020

The pathogenic role of point mutations affecting the translational initiation codon of mitochondrial genes

1 reference

12 December 2020

Mitochondrial disorders

1 reference

12 December 2020

Mitochondrial encephalomyopathies:gene mutation

1 reference

12 December 2020

Impaired insulin secretion in Japanese diabetic subjects with an A-to-G mutation at nucleotide 8296 of the mitochondrial DNA in tRNA(Lys)

1 reference

12 December 2020

Identifiers

DOI

10.1042/BJ20040949

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15554876%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15554876%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

PubMed publication ID

15554876

1 reference