(Q45949506)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17154655%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

title

Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17154655%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

1

1 reference

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22 December 2019

author name string

Nicolas Neckelmann

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17154655%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Veronique Paquis-Flucklinger

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17154655%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Sylvie Bannwarth

4

1 reference

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22 December 2019

Richard Jimenez

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17154655%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Antonio Davila

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17154655%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Jason C Poole

7

1 reference

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22 December 2019

Douglas C Wallace

8

1 reference

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22 December 2019

publication date

1 January 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17154655%20AND%20SRC:MED&resulttype=core&format=json

Molecular Diagnosis and Therapy

22 December 2019

published in

1 reference

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22 December 2019

volume

10

1 reference

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22 December 2019

issue

6

1 reference

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22 December 2019

page(s)

381-389

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf03256215

22 December 2019

exact match

0 references

cites work

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Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction

21 January 2018

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Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

21 January 2018

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Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

21 January 2018

1 reference

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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.

21 January 2018

1 reference

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A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

21 January 2018

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Mitochondrial DNA analysis in clinical laboratory diagnostics

21 January 2018

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Techniques and Pitfalls in the Detection of Pathogenic Mitochondrial DNA Mutations

21 January 2018

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Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography

21 January 2018

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Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography.

21 January 2018

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Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.

21 January 2018

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Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio

21 January 2018

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Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines

21 January 2018

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Insulin resistance associated with maternally inherited diabetes and deafness.

21 January 2018

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21 January 2018

1 reference

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The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03256215

Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study

21 January 2018

1 reference

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Maternally inherited diabetes and deafness: a multicenter study

21 January 2018

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Metformin inhibits mitochondrial permeability transition and cell death: a pharmacological in vitro study

21 January 2018

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Prevalence of maternally inherited diabetes and deafness in diabetic populations in the Netherlands

21 January 2018

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Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis

21 January 2018

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12 December 2020

Mitochondrial factors in the pathogenesis of diabetes: a hypothesis for treatment.

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12 December 2020

Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis

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12 December 2020

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

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12 December 2020

High-throughput mitochondrial genome screening method for nonmelanoma skin cancer using multiplexed temperature gradient capillary electrophoresis

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12 December 2020

Mitochondrial diseases

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12 December 2020

Use of ethidium bromide to manipulate ratio of mutated and wild-type mitochondrial DNA in cultured cells

1 reference

12 December 2020

Extra-pancreatic manifestations in diabetes secondary to mitochondrial DNA point mutation within the tRNALeu(UUR) gene

1 reference

12 December 2020

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

12 December 2020