Mitochondrial disease--its impact, etiology, and pathology. (Q36707793)

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24 December 2019

review article

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title

Mitochondrial disease--its impact, etiology, and pathology (English)

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24 December 2019

1

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24 December 2019

author name string

R W Taylor

series ordinal

2

1 reference

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24 December 2019

D M Turnbull

series ordinal

3

1 reference

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24 December 2019

publication date

1 January 2007

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Current Topics in Developmental Biology

24 December 2019

published in

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24 December 2019

volume

77

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24 December 2019

page(s)

113-155

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Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

24 December 2019

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Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

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Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons

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Chronic Parkinsonism in humans due to a product of meperidine-analog synthesis

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Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

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7 January 2021

Localization of the Wilson's disease protein product to mitochondria

1 reference

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7 January 2021

Leber hereditary optic neuropathy in Australia

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

The epidemiology of Leber hereditary optic neuropathy in the North East of England

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

Cell cycle dependent morphology changes and associated mitochondrial DNA redistribution in mitochondria of human cell lines.

1 reference

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7 January 2021

Genetic and evolutionary consequences of symbiosis

1 reference

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7 January 2021

Correlation between clinical and molecular features in two MELAS families

1 reference

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7 January 2021

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

1 reference

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7 January 2021

The neurology of mitochondrial DNA disease.

1 reference

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7 January 2021

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

1 reference

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7 January 2021

Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.

1 reference

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7 January 2021

A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis

1 reference

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7 January 2021

Failure of the ubiquitin-proteasome system in Parkinson's disease

1 reference

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7 January 2021

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

1 reference

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7 January 2021

Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs

1 reference

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7 January 2021

Identification of initiation sites for heavy-strand and light-strand transcription in human mitochondrial DNA

1 reference

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7 January 2021

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

1 reference

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7 January 2021

Pearson's marrow/pancreas syndrome: a histological and genetic study

1 reference

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7 January 2021

Multiple independent occurrence of the 3243 mutation in mitochondrial tRNA(leuUUR) in patients with the MELAS phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0070-2153%2806%2977005-3

7 January 2021

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

1 reference

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7 January 2021

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

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7 January 2021

Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNALeu(UUR) ]

1 reference

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7 January 2021

tRNA punctuation model of RNA processing in human mitochondria

1 reference

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7 January 2021

Tissue distribution and disease manifestations of the tRNA(Lys) A-->G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres

1 reference

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7 January 2021

Mechanism of somatic mitochondrial DNA mutations associated with age and diseases

1 reference

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7 January 2021

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

1 reference

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7 January 2021

1 reference

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7 January 2021

The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation

1 reference

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7 January 2021

Somatic mutations of the mitochondrial genome in human colorectal tumours

1 reference

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7 January 2021

Duplications of mitochondrial DNA in Kearns-Sayre syndrome

1 reference

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7 January 2021

Mitochondrial genetics '98 is the bottleneck cracked?

1 reference

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7 January 2021

Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study.

1 reference

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7 January 2021

Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

1 reference

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7 January 2021

Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD.

1 reference

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7 January 2021

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

1 reference

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7 January 2021

A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

1 reference

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7 January 2021

Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family

1 reference

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7 January 2021

mt4216C variant in linkage with the mtDNA TJ cluster may confer a susceptibility to mitochondrial dysfunction resulting in an increased risk of Parkinson's disease in the Irish

1 reference

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7 January 2021

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

1 reference

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7 January 2021

UKPDS 21: low prevalence of the mitochondrial transfer RNA gene (tRNA(Leu(UUR))) mutation at position 3243bp in UK Caucasian type 2 diabetic patients

1 reference

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7 January 2021

The emerging concept of mitochondrial cardiomyopathies

1 reference

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7 January 2021

Rare creation of recombinant mtDNA haplotypes in mammalian tissues

1 reference

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7 January 2021

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria

1 reference

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7 January 2021

The epidemiology of mitochondrial disorders--past, present and future

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7 January 2021

Paternal inheritance of mitochondrial DNA

1 reference

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7 January 2021

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

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7 January 2021

The ABCs of mitochondrial transcription.

1 reference

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7 January 2021

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

1 reference

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7 January 2021

Aminoacylation properties of pathology-related human mitochondrial tRNA(Lys) variants

1 reference

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7 January 2021

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

1 reference

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7 January 2021

Altered thymidine metabolism due to defects of thymidine phosphorylase

1 reference

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7 January 2021

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.

1 reference

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7 January 2021

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

1 reference

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7 January 2021

Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders

1 reference

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7 January 2021

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene

1 reference

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7 January 2021

Origin and functional consequences of the complex I defect in Parkinson's disease

1 reference

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7 January 2021

Mitochondrial DNA mutations in human disease

1 reference

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7 January 2021

Mitochondrial DNA mutations in human colonic crypt stem cells

1 reference

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7 January 2021

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

1 reference

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7 January 2021

The diagnosis of mitochondrial muscle disease.

1 reference

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7 January 2021

A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis

1 reference

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7 January 2021

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene

1 reference

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7 January 2021

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

1 reference

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7 January 2021

The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover

1 reference

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7 January 2021

Ekbom's syndrome of photomyoclonus, cerebellar ataxia and cervical lipoma is associated with the tRNA(Lys) A8344G mutation in mitochondrial DNA

1 reference

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7 January 2021

Respiratory chain complex I deficiency

1 reference

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7 January 2021

Premature ageing in mice expressing defective mitochondrial DNA polymerase

1 reference

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7 January 2021

Systematic review of incidence studies of Parkinson's disease

1 reference

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7 January 2021

Childhood encephalopathies and myopathies: a prospective study in a defined population to assess the frequency of mitochondrial disorders

1 reference

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7 January 2021

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease

1 reference

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7 January 2021

Analysis of European mitochondrial haplogroups with Alzheimer disease risk

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7 January 2021

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

1 reference

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7 January 2021

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

1 reference

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7 January 2021

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

1 reference

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7 January 2021

Sequence analysis of the entire mitochondrial genome in Parkinson's disease

1 reference

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7 January 2021

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

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7 January 2021

A cluster of metabolic defects caused by mutation in a mitochondrial tRNA.

1 reference

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7 January 2021

Management of myogenic ptosis

1 reference

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7 January 2021

Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication.

1 reference

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7 January 2021

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

1 reference

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7 January 2021

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

1 reference

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7 January 2021

Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy

1 reference

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7 January 2021

Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes

1 reference

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7 January 2021

Transcription and replication of animal mitochondrial DNAs.

1 reference

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7 January 2021

Mechanism of replication of bacteriophage phi X174 XIX. Initiation of phi X174 viral strand DNA synthesis at internal sites on the genome

1 reference

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7 January 2021

Quantification of mtDNA in single oocytes, polar bodies and subcellular components by real-time rapid cycle fluorescence monitored PCR.

1 reference

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7 January 2021

10.1016/S0070-2153(06)77005-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17222702%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

1 reference