(Q50488844)

14 March 2018

title

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

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14 March 2018

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Olsson C

1

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14 March 2018

Johnsen E

2

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14 March 2018

Nilsson M

3

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14 March 2018

Wilander E

4

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14 March 2018

Syvänen AC

5

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14 March 2018

Lagerström-Fermér M

6

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14 March 2018

publication date

1 December 2001

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14 March 2018

European Journal of Human Genetics

published in

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14 March 2018

volume

9

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14 March 2018

issue

12

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14 March 2018

page(s)

917-921

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14 March 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200742

exact match

0 references

cites work

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

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Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness.

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Auditory findings in patients with maternally inherited diabetes and deafness harboring a point mutation in the mitochondrial transfer RNA(Leu) (UUR) gene.

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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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Maternally inherited diabetes and deafness: a new diabetes subtype

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Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.

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A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).

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Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.

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Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription

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Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.

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Detection and quantitation of human papillomavirus by using the fluorescent 5' exonuclease assay

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MELAS: clinical features, biochemistry, and molecular genetics

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7 January 2021

Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues

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7 January 2021

Noninvasive diagnosis of the MELAS syndrome from blood DNA

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Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

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Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age

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Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging

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7 January 2021

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

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7 January 2021

Longitudinal analysis of the segregation of mtDNA mutations in heteroplasmic individuals

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7 January 2021

Heteroplasmy of the human mtDNA control region remains constant during life

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7 January 2021

Relaxed replication of mtDNA: A model with implications for the expression of disease

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7 January 2021

Quantification of mitochondrial DNA carrying the tRNA(8344Lys) point mutation in myoclonus epilepsy and ragged-red-fiber disease

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200742

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200742

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14 March 2018

1 reference

14 March 2018