Molecular basis of mitochondrial DNA disease (Q40697787)

22 September 2017

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title

Molecular basis of mitochondrial DNA disease (English)

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22 September 2017

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M D Brown

1

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22 September 2017

D C Wallace

series ordinal

2

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22 September 2017

publication date

1 June 1994

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Journal of Bioenergetics and Biomembranes

22 September 2017

published in

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22 September 2017

volume

26

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22 September 2017

issue

3

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22 September 2017

page(s)

273-289

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Hypoxemia is associated with mitochondrial DNA damage and gene induction. Implications for cardiac disease

22 September 2017

cites work

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12 December 2020

Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis

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12 December 2020

A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome

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12 December 2020

Familial "mitochondrial" myopathy. A myopathy associated with disordered oxidative metabolism in muscle fibres. 2. Biochemical findings

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12 December 2020

Genetic mapping of human heart-skeletal muscle adenine nucleotide translocator and its relationship to the facioscapulohumeral muscular dystrophy locus

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12 December 2020

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia

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12 December 2020

Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

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12 December 2020

Sequence and organization of the human mitochondrial genome

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12 December 2020

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

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12 December 2020

Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies

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12 December 2020

Adaptation of skeletal muscle to increased contractile activity. Expression nuclear genes encoding mitochondrial proteins

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12 December 2020

Deficiency of complex III of the mitochondrial respiratory chain in a patient with facioscapulohumeral disease

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12 December 2020

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

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12 December 2020

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

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12 December 2020

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high

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12 December 2020

Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy

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12 December 2020

Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations

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12 December 2020

Germ-line deletions of mtDNA in mitochondrial myopathy

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12 December 2020

Sensorineural deafness inherited as a tissue specific mitochondrial disorder

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12 December 2020

Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation

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12 December 2020

Mitochondrial diseases: genotype versus phenotype

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12 December 2020

Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy

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12 December 2020

Mitochondrial mutation in fatal infantile cardiomyopathy

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12 December 2020

Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome

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12 December 2020

An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy

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12 December 2020

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy

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12 December 2020

Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions

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12 December 2020

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

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12 December 2020

Mitochondrial tRNA(Thr) mutations and lethal infantile mitochondrial myopathy

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12 December 2020

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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12 December 2020

Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.

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12 December 2020

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

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12 December 2020

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy

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12 December 2020

Ophthalmologic manifestations in MELAS syndrome

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12 December 2020

Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis

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12 December 2020

Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction

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12 December 2020

A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers

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12 December 2020

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

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12 December 2020

A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I

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12 December 2020

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

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12 December 2020

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)

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12 December 2020

Mitochondrial DNA expression in mitochondrial myopathies and coordinated expression of nuclear genes involved in ATP production

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12 December 2020

Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy

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12 December 2020

Differential expression of adenine nucleotide translocator isoforms in mammalian tissues and during muscle cell differentiation

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12 December 2020

Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy

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12 December 2020

Leber's disease and dystonia: a mitochondrial disease

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12 December 2020

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy

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12 December 2020

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

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12 December 2020

Cytochrome b mutations in Leber hereditary optic neuropathy

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12 December 2020

The human ATP synthase beta subunit gene: sequence analysis, chromosome assignment, and differential expression

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12 December 2020

Deficiency of subunits of Complex I and mitochondrial encephalomyopathy

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12 December 2020

A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy

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12 December 2020

Oxidative phosphorylation diseases. Disorders of two genomes

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12 December 2020

Leber’s Hereditary Optic Neuroretinopathy and the X-Chromosomal Susceptibility Factor: No Linkage to DXS7

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12 December 2020

In vitro transcription of human mitochondrial DNA: accurate termination requires a region of DNA sequence that can function bidirectionally

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12 December 2020

When does bilateral optic atrophy become Leber hereditary optic neuropathy?

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12 December 2020

A maculopathy associated with the 15257 mitochondrial DNA mutation

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12 December 2020

Asian affinities and continental radiation of the four founding Native American mtDNAs

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12 December 2020

Two cases of NADH-coenzyme Q reductase deficiency: relationship to MELAS syndrome

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12 December 2020

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

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12 December 2020

Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation

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12 December 2020

Cytochrome c oxidase mutations in Leber hereditary optic neuropathy

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12 December 2020

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

1 reference

12 December 2020

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

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12 December 2020

A mitochondrial tRNA anticodon swap associated with a muscle disease

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12 December 2020

Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease

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12 December 2020

Detection of a specific mitochondrial DNA deletion in tissues of older humans

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12 December 2020

A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies

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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

Diseases of the mitochondrial DNA.

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12 December 2020

cDNA sequence of a human skeletal muscle ADP/ATP translocator: lack of a leader peptide, divergence from a fibroblast translocator cDNA, and coevolution with mitochondrial DNA genes

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12 December 2020

Biochemical characterization of a pedigree with mitochondrially inherited deafness

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12 December 2020

Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism

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12 December 2020

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

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12 December 2020

Computer prediction of peptide maps: assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two-dimensional-proteolytic digest gels

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12 December 2020

Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene.

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12 December 2020

Mitochondrial DNA mutations as an important contributor to ageing and degenerative diseases

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12 December 2020

Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form.

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12 December 2020

Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency

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12 December 2020

Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene

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12 December 2020

A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology

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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

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

1 reference

12 December 2020

Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease

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12 December 2020

A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues

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12 December 2020

Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation

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12 December 2020

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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12 December 2020

Tissue-specific genes for respiratory proteins

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12 December 2020

Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.

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12 December 2020

The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus

1 reference

12 December 2020

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

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12 December 2020

A form of sensorineural deafness is determined by a mitochondrial and an autosomal locus: evidence from pedigree segregation analysis

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12 December 2020

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

1 reference

12 December 2020

Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy

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12 December 2020

Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases

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12 December 2020

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

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12 December 2020

Transcriptional control of nuclear genes for the mitochondrial muscle ADP/ATP translocator and the ATP synthase beta subunit. Multiple factors interact with the OXBOX/REBOX promoter sequences

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12 December 2020

The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation

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12 December 2020

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees

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12 December 2020

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

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12 December 2020

Sequence analysis of cDNAs for the human and bovine ATP synthase beta subunit: mitochondrial DNA genes sustain seventeen times more mutations

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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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12 December 2020

In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria

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12 December 2020

Liver mitochondrial respiratory functions decline with age

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12 December 2020

DECLINE IN SKELETAL MUSCLE MITOCHONDRIAL RESPIRATORY CHAIN FUNCTION: POSSIBLE FACTOR IN AGEING

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12 December 2020

Identifiers

DOI

10.1007/BF00763099

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22 September 2017

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