Diabetes-associated mitochondrial DNA mutation A3243G impairs cellular metabolic pathways necessary for beta cell function. (Q40273572)

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28 January 2020

title

Diabetes-associated mitochondrial DNA mutation A3243G impairs cellular metabolic pathways necessary for beta cell function (English)

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28 January 2020

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6

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28 January 2020

author name string

P B M de Andrade

1

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28 January 2020

B Rubi

2

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28 January 2020

F Frigerio

3

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28 January 2020

J M W van den Ouweland

4

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28 January 2020

J A Maassen

5

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publication date

31 May 2006

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28 January 2020

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28 January 2020

volume

49

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28 January 2020

issue

8

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28 January 2020

page(s)

1816-1826

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Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells

28 January 2020

cites work

1 reference

Crossref

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Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids

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The pancreatic beta-cell as a fuel sensor: an electrophysiologist's viewpoint

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Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu(UUR) gene mutation

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GAD65-mediated glutamate decarboxylation reduces glucose-stimulated insulin secretion in pancreatic beta cells.

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Quantitation and origin of the mitochondrial membrane potential in human cells lacking mitochondrial DNA.

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Enhanced ROS production and antioxidant defenses in cybrids harbouring mutations in mtDNA.

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Effects of nitric oxide donors on cybrids harbouring the mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) A3243G mitochondrial DNA mutation

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Functional F1-ATPase essential in maintaining growth and membrane potential of human mitochondrial DNA-depleted rho degrees cells

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Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines.

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Mitochondria as the conductor of metabolic signals for insulin exocytosis in pancreatic beta-cells.

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A novel 7301-bp deletion in mitochondrial DNA in a patient with Kearns-Sayre syndrome, diabetes mellitus, and primary amenorrhoea

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Mitochondrial DNA is required for regulation of glucose-stimulated insulin secretion in a mouse pancreatic beta cell line, MIN6.

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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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Functional and morphological abnormalities of mitochondria harbouring the tRNA(Leu)(UUR) mutation in mitochondrial DNA derived from patients with maternally inherited diabetes and deafness (MIDD) and progressive kidney disease.

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12 December 2020

The malate-aspartate NADH shuttle member Aralar1 determines glucose metabolic fate, mitochondrial activity, and insulin secretion in beta cells

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Antioxidant defences and homeostasis of reactive oxygen species in different human mitochondrial DNA-depleted cell lines.

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12 December 2020

A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency

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Mitochondrial formation of reactive oxygen species

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Mitochondrial activation and the pyruvate paradox in a human cell line.

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

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12 December 2020

Diminished insulin secretory response to glucose but normal insulin and glucagon secretory responses to arginine in a family with maternally inherited diabetes and deafness caused by mitochondrial tRNA(LEU(UUR)) gene mutation

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12 December 2020

Impaired insulin secretion and beta-cell loss in tissue-specific knockout mice with mitochondrial diabetes.

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12 December 2020

Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome

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A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA.

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Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production

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Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy

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Continuous monitoring of ATP levels in living insulin secreting cells expressing cytosolic firefly luciferase

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Dopamine D2-like receptors are expressed in pancreatic beta cells and mediate inhibition of insulin secretion

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12 December 2020

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

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Mitochondrial dysfunction and type 2 diabetes

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12 December 2020