Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation (Q28307360)

Acta Neurologica Scandinavica

Europe PubMed Central

title

Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation (English)

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J Finsterer

1

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language of work or name

English

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publication date

July 2007

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published in

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volume

116

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issue

1

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page(s)

1-14

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cites work

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.2007.00836.X

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1600-0404.2007.00836.X

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Molecular investigations on tRNAs involved in human mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

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

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Pathophysiology of the MELAS 3243 transition mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Distinct nuclear gene expression profiles in cells with mtDNA depletion and homoplasmic A3243G mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

A non-syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Search for mitochondrial DNA mutation at position 3243 in German patients with a positive family history of maternal diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Molecular and clinical aspects of mitochondrial diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Renal cell carcinoma in a pediatric patient with an inherited mitochondrial mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Response to sumatriptan in headache of MELAS syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Persistent organic personality change as rare psychiatric manifestation of MELAS syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Ketoacidosis: an unusual presentation of MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Cerebral lactic acidosis correlates with neurological impairment in MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Mitochondrial myopathies and encephalomyopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Central nervous system manifestations of mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Deep white matter pathologic features in watershed regions: a novel pattern of central nervous system involvement in MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Late onset of stroke-like episode associated with a 3256C-->T point mutation of mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Oxidative stress, mitochondrial dysfunction, and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Intestinal pseudo-obstruction in a diabetic man: role of the mitochondrial A3243G mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Mitochondrial diabetes mellitus: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

The neurology of mitochondrial DNA disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

A novel mitochondrial tRNAPhe mutation causes MERRF syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Cerebral lactic acidosis correlates with neurological impairment in MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Mitochondrial DNA sequence variation in human evolution and disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Atypical presentations of leigh syndrome: a case series and review

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

White matter involvement in mitochondrial diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Infantile Spasms with Basal Ganglia MRI Hypersignal May Reveal Mitochondrial Disorder Due to T8993G MT DNA Mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Carbon 13-labeled magnetic resonance spectroscopy observation of cerebral glucose metabolism: metabolism in MELAS: case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

No correlation between muscle A3243G mutation load and mitochondrial function in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients harboring the A3243G point mutation or large-scale deletions of mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Friedreich's Ataxia: disease mechanisms, antioxidant and Coenzyme Q10 therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Antecedent infections in Fisher syndrome: a common pathogenesis of molecular mimicry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Chorea triggered by hyperglycemia in a maternally inherited diabetes and deafness (MIDD) patient with the A3243G mutation of mitochondrial DNA and basal ganglia calcification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

[Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (Melas) associated with a Fahr disease and cerebellar calcifications].

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

Another observation with VATER association and a complex IV respiratory chain deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

MELAS: clinical phenotype and morphological brain abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X

21 January 2018

Mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0404.2007.00836.X