Mitochondrial genetics and disease

Trends in Biochemical Sciences

Volumn 25, Issue 11, 2000, Pages 555-560

  Schon, Eric A ^a  

^a Columbia University ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; MITOCHONDRIAL DNA;

DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENERGY METABOLISM; ENVIRONMENTAL FACTOR; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; HUMAN; ORGAN DISTRIBUTION; OXIDATIVE PHOSPHORYLATION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SYNTHESIS; RESPIRATORY CHAIN; REVIEW; TISSUE DISTRIBUTION;

ADENOSINE TRIPHOSPHATE; CELL RESPIRATION; DNA, MITOCHONDRIAL; HUMANS; MITOCHONDRIAL MYOPATHIES; MUTATION; PROTEIN BIOSYNTHESIS; PROTEINS;

EID: 0034326946     PISSN: 09680004     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0968-0004(00)01688-1     Document Type: Review

References (30)

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3. Behaviour of a population of partially duplicated mitochondrial DNA molecules in cell culture: Segregation, maintenance and recombination dependent upon nuclear background
4. Rearrangements of human mitochondrial DNA (mtDNA): New insights into the regulation of mtDNA copy number and gene expression
5. Defects of intergenomic communication: Where do we stand?
6. Mutations in mtDNA: Are we scraping the bottom of the barrel?
7. Mitochondrial respiratory chain diseases and mutations in nuclear DNA: A promising start?
8. Mitochondrial DNA mutations and pathogenesis
9. Mitochondrial deafness mutations reviewed
10. Clinical, biochemical and molecular genetic features of Leber's hereditary optic neuropathy
11. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
12. Facile detection of mitochondrial DNA mutations in tumors and bodily fluids
13. Cytochrome c oxidase: Structure and spectroscopy
14. Mitochondrial copper metabolism in yeast: Mutational analysis of Sco1p involved in the biogenesis of cytochrome c oxidase
15. Molecular architecture of the rotary motor in ATP synthase
16. Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene
17. Structural changes linked to proton translocation by subunit c of the ATP synthase
18. 0 cells completely lacking mtDNA
19. Neurotrophin-4 is upregulated in ragged-red fibers associated with pathogenic mitochondrial DNA mutations
20. Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt-3243
21. Tissue variation in the control of oxidative phosphorylation: Implication for mitochondrial diseases
22. Mitochondria and skin disease
23. Hepatotoxicity due to mitochondrial dysfunction
24. Kearns-Sayre syndrome: Oncocytic transformation of choroid plexus epithelium
25. The machinery of mitochondrial inheritance and behavior
26. Kearns-Sayre syndrome: Unusual pattern of expression of subunits of the respiratory chain in the cerebellar system
27. Compartmentation of mitochondrial creatine phosphokinase. I. Direct demonstration of compartmentation with the use of labeled precursors
28. Localized firefly luciferase probes ATP at the surface of mitochondria
29. A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency
30. Glucose generates sub-plasma membrane ATP microdomains in single islet β-cells. Potential role for strategically located mitochondria