Mitochondrial defects in neurodegenerative disease (Q34366678)

1 August 2017

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title

Mitochondrial defects in neurodegenerative disease (English)

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1 August 2017

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Wallace DC

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1 August 2017

publication date

1 January 2001

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Mental Retardation and Developmental Disabilities Research Reviews

1 August 2017

published in

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1 August 2017

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1 August 2017

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1 August 2017

page(s)

158-166

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Oxidants, antioxidants, and the degenerative diseases of aging

1 August 2017

cites work

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Mitochondrial mutations may increase oxidative stress: implications for carcinogenesis and aging?

21 January 2018

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Mitochondrial DNA of chloramphenicol-resistant mouse cells contains a single nucleotide change in the region encoding the 3' end of the large ribosomal RNA.

21 January 2018

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Different nucleotide changes in the large rRNA gene of the mitochondrial DNA confer chloramphenicol resistance on two human cell lines

21 January 2018

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Decline with age of the respiratory chain activity in human skeletal muscle.

21 January 2018

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Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

21 January 2018

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The cellular production of hydrogen peroxide

21 January 2018

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Age-dependent impairment of mitochondrial function in primate brain

21 January 2018

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Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations

21 January 2018

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Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients.

21 January 2018

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Expression of genes from the human active and inactive X chromosomes

21 January 2018

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Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation

21 January 2018

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Enhancement of hydrogen peroxide formation by protophores and ionophores in antimycin-supplemented mitochondria

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome

21 January 2018

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Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndrome

21 January 2018

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Cytochrome c oxidase deficiency in Leigh syndrome

21 January 2018

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Mitochondrial disease in mouse results in increased oxidative stress

21 January 2018

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Mitochondrial oxidative stress in mice lacking the glutathione peroxidase-1 gene

21 January 2018

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Expression of human ANT2 gene in highly proliferative cells: GRBOX, a new transcriptional element, is involved in the regulation of glycolytic ATP import into mitochondria

21 January 2018

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Oxygen free radicals and cardiac reperfusion abnormalities

21 January 2018

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

21 January 2018

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Mitochondria and apoptosis

21 January 2018

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Leigh's encephalomyelopathy: an inborn error of gluconeogenesis

21 January 2018

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Two distinct genes for ADP/ATP translocase are expressed at the mRNA level in adult human liver

21 January 2018

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Human brain contains high levels of heteroplasmy in the noncoding regions of mitochondrial DNA.

21 January 2018

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A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

21 January 2018

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

21 January 2018

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A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

21 January 2018

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Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia

21 January 2018

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Role of adenine nucleotide translocator 1 in mtDNA maintenance

21 January 2018

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Cell-by-cell scanning of whole mitochondrial genomes in aged human heart reveals a significant fraction of myocytes with clonally expanded deletions

21 January 2018

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Human deafness dystonia syndrome is a mitochondrial disease

21 January 2018

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

21 January 2018

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Gene expression profile of aging and its retardation by caloric restriction

21 January 2018

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Transfer of chloramphenicol-resistant mitochondrial DNA into the chimeric mouse

21 January 2018

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Expression and sequence analysis of the mouse adenine nucleotide translocase 1 and 2 genes.

21 January 2018

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Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase

21 January 2018

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Induction of apoptotic program in cell-free extracts: requirement for dATP and cytochrome c

21 January 2018

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The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

21 January 2018

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The caspase-3 precursor has a cytosolic and mitochondrial distribution: implications for apoptotic signaling

21 January 2018

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Bax and adenine nucleotide translocator cooperate in the mitochondrial control of apoptosis

21 January 2018

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Molecular genetic characterization of an X-linked form of Leigh's syndrome

21 January 2018

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Oxidative damage to mitochondrial DNA shows marked age-dependent increases in human brain.

21 January 2018

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Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle

21 January 2018

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Multi-organ characterization of mitochondrial genomic rearrangements in ad libitum and caloric restricted mice show striking somatic mitochondrial DNA rearrangements with age

21 January 2018

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A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase

21 January 2018

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Mitochondrial disease in superoxide dismutase 2 mutant mice

21 January 2018

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Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication

21 January 2018

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Cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence for a nuclear DNA-encoded mutation.

21 January 2018

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Detection of mitochondrial DNA nucleotide 11778 point mutation of Leber hereditary optic neuropathy from archival stained histopathological preparations

21 January 2018

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Up-regulation of nuclear and mitochondrial genes in the skeletal muscle of mice lacking the heart/muscle isoform of the adenine nucleotide translocator

21 January 2018

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21 January 2018

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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

21 January 2018

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Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 January 2018

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A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

21 January 2018

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Mitochondria and programmed cell death: back to the future.

21 January 2018

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Normal oxidative damage to mitochondrial and nuclear DNA is extensive

21 January 2018

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Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease

21 January 2018

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Maternally inherited mitochondrial myopathy and myoclonic epilepsy

21 January 2018

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Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

21 January 2018

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A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice.

21 January 2018

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Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain

21 January 2018

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Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia

21 January 2018

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An autosomal locus predisposing to deletions of mitochondrial DNA

21 January 2018

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Molecular characterization of mitochondrial apoptosis-inducing factor

21 January 2018

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Mitochondrial release of caspase-2 and -9 during the apoptotic process

21 January 2018

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

21 January 2018

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Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio

21 January 2018

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Cloning of neuronal mtDNA variants in cultured cells by synaptosome fusion with mtDNA-less cells

21 January 2018

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Generation of superoxide anion by the NADH dehydrogenase of bovine heart mitochondria

21 January 2018

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Mitochondrial genetics: a paradigm for aging and degenerative diseases?

21 January 2018

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Diseases of the mitochondrial DNA.

21 January 2018

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Mitochondrial diseases in man and mouse

21 January 2018

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Mitochondria and dystonia: the movement disorder connection?

21 January 2018

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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

21 January 2018

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Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue

21 January 2018

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Oxidative damage during aging targets mitochondrial aconitase

21 January 2018

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Searching for genes affecting the structural integrity of the mitochondrial genome

21 January 2018

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Multiple mitochondrial DNA deletions in an elderly human individual

21 January 2018

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

21 January 2018

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The mitochondrial permeability transition.

21 January 2018

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De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy

21 January 2018

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

21 January 2018

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Clinical spectrum of mitochondrial DNA mutation at base pair 8344

21 January 2018

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A cellular poison cupboard

21 January 2018

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Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

21 January 2018

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Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

21 January 2018

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Mitochondrial diabetes revisited

21 January 2018

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Determination of the production of superoxide radicals and hydrogen peroxide in mitochondria

21 January 2018

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Mitochondrial ADP/ATP carrier can be reversibly converted into a large channel by Ca2+

21 January 2018

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Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy

21 January 2018

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Analyses of mitochondrial respiratory chain function and mitochondrial DNA deletion in human skeletal muscle: effect of ageing

21 January 2018

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Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome

21 January 2018

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Clinical features of melas and mitochondrial DNA mutations

21 January 2018

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A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator

21 January 2018

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Age-associated damage in mitochondrial DNA in human hearts

21 January 2018

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

21 January 2018

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A novel mtDNA deletion in an infant with Pearson syndrome

21 January 2018

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Effect of electron transfer inhibitors on superoxide generation in the cytochrome bc1 site of the mitochondrial respiratory chain

21 January 2018

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Gene-expression profile of the ageing brain in mice

21 January 2018

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Superoxide radicals as precursors of mitochondrial hydrogen peroxide

21 January 2018

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High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy

21 January 2018

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Extension of Life-Span with Superoxide Dismutase/Catalase Mimetics

21 January 2018

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Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

21 January 2018

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Cytochrome c oxidase deficient fibres in the limb muscle and diaphragm of man without muscular disease: an age-related alteration

21 January 2018

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Progressive loss of cytochrome c oxidase in the human extraocular muscles in ageing--a cytochemical-immunohistochemical study

21 January 2018

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Different in situ hybridization patterns of mitochondrial DNA in cytochrome c oxidase-deficient extraocular muscle fibres in the elderly

21 January 2018

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Leber's disease and dystonia: a mitochondrial disease

21 January 2018

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Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation

21 January 2018

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Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndrome

21 January 2018

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Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome

21 January 2018

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

21 January 2018

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Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation

21 January 2018

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Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene

21 January 2018

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Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR

21 January 2018

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Pearson's marrow/pancreas syndrome: haematological features associated with deletion and duplication of mitochondrial DNA

21 January 2018

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

21 January 2018

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Ubisemiquinone is the electron donor for superoxide formation by complex III of heart mitochondria

21 January 2018

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

21 January 2018

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Mitochondrial DNA mutations in epilepsy and neurological disease

21 January 2018

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Liver mitochondrial respiratory functions decline with age

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MRDD.1023

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1 August 2017

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