Journal ArticleDOI
Mitochondrial genetics and disease
TLDR
This chapter discusses mitochondrial respiratory chain diseases, which are a highly diverse group of disorders whose main unifying characteristic is the impairment of mitochondrial function.About:
This article is published in Trends in Biochemical Sciences.The article was published on 2000-11-01. It has received 174 citations till now. The article focuses on the topics: Mitochondrial respiratory chain & Human mitochondrial genetics.read more
Citations
More filters
Journal ArticleDOI
The proteome of Saccharomyces cerevisiae mitochondria
Albert Sickmann,Jörg Reinders,Yvonne Wagner,Cornelia Joppich,René P. Zahedi,Helmut E. Meyer,Birgit Schönfisch,Inge Perschil,Agnieszka Chacinska,Bernard Guiard,Peter Rehling,Nikolaus Pfanner,Chris Meisinger +12 more
TL;DR: The mitochondrial proteome will provide an important database for the analysis of new mitochondrial and mitochondria-associated functions and the characterization of mitochondrial diseases.
Journal ArticleDOI
Delivery of bioactive molecules to mitochondria in vivo
TL;DR: Mitochondrial dysfunction contributes to many human degenerative diseases but specific treatments are hampered by the difficulty of delivering bioactive molecules to mitochondria in vivo, so mitochondria-targetedBioactive molecules can be administered orally, leading to their accumulation at potentially therapeutic concentrations in those tissues most affected by mitochondrial dysfunction.
Journal ArticleDOI
Mitochondrial creatine kinase in human health and disease
TL;DR: Under situations of compromised cellular energy state, two characteristics of mitochondrial creatine kinase are particularly relevant: its exquisite susceptibility to oxidative modifications and the compensatory up-regulation of its gene expression, in some cases leading to accumulation of crystalline MtCK inclusion bodies in mitochondria that are the clinical hallmarks for mitochondrial cytopathies.
Journal ArticleDOI
Number matters: control of mammalian mitochondrial DNA copy number
TL;DR: This review summarizes the current knowledge of mtDNA copy number control in mammalian cells, while focusing on both mtDNA replication and turnover.
Journal ArticleDOI
The Role of Sirtuins in Antioxidant and Redox Signaling
Chandra K. Singh,Gagan Chhabra,Mary A. Ndiaye,Liz M. Garcia-Peterson,Nicholas J Mack,Nihal Ahmad +5 more
TL;DR: Sirtuins are emerging to be important in normal mammalian physiology and in a variety of oxidative stress-mediated pathological situations and studies are needed to dissect the mechanisms of sIRTuins in maintaining redox homeostasis.
References
More filters
Journal ArticleDOI
Sequence and organization of the human mitochondrial genome
Stephen Anderson,Alan T. Bankier,Bart Barrell,M.H.L. de Bruijn,Alan Coulson,J. Drouin,J. Drouin,Ian C. Eperon,Donald P. Nierlich,Donald P. Nierlich,Bruce A. Roe,Bruce A. Roe,Frederick Sanger,P. H. Schreier,Andrew J.H. Smith,Rodger Staden,Ian G. Young,Ian G. Young +17 more
TL;DR: The complete sequence of the 16,569-base pair human mitochondrial genome is presented and shows extreme economy in that the genes have none or only a few noncoding bases between them, and in many cases the termination codons are not coded in the DNA but are created post-transcriptionally by polyadenylation of the mRNAs.
Journal ArticleDOI
Mutations in SDHD, a Mitochondrial Complex II Gene, in Hereditary Paraganglioma
Bora E. Baysal,Robert E. Ferrell,Joan E. Willett-Brozick,Elizabeth C. Lawrence,David Myssiorek,Anne Bosch,Andel G. L. van der Mey,Peter E.M. Taschner,Wendy S. Rubinstein,Eugene N. Myers,Charles W. Richard,Cees J. Cornelisse,Peter Devilee,Bernie Devlin +13 more
TL;DR: Analysis of families carrying the PGL1 gene revealed germ line mutations in the SDHD gene, which indicates that mitochondria play an important role in the pathogenesis of certain tumors and that cybS plays a role in normal CB physiology.
Journal ArticleDOI
Molecular architecture of the rotary motor in ATP synthase
TL;DR: An electron density map obtained from crystals of a subcomplex of yeast mitochondrial ATP synthase shows a ring of 10 c subunits whose extensive contact between the c ring and the stalk suggests that they may rotate as an ensemble during catalysis.
Journal ArticleDOI
Facile Detection of Mitochondrial DNA Mutations in Tumors and Bodily Fluids
Makiko Fliss,Henning Usadel,Otavia L. Caballero,Li Wu,Martin Buta,Scott M. Eleff,Jin Jen,David Sidransky +7 more
TL;DR: Examination of human bladder, head and neck, and lung primary tumors revealed a high frequency of mitochondrial DNA (mtDNA) mutations, indicating that the mutant mtDNA became dominant in tumor cells.
Journal ArticleDOI
The machinery of mitochondrial inheritance and behavior.
TL;DR: Characterization of the underlying molecular components of this machinery is providing insight into mechanisms regulating mitochondrial morphology and distribution.