Skip to main content Accessibility help
×
Hostname: page-component-848d4c4894-ttngx Total loading time: 0 Render date: 2024-05-14T03:55:34.832Z Has data issue: false hasContentIssue false

Chapter 1 - Mitochondria in Health and Disease

from Section 1 - Introduction to Mitochondrial Medicine

Published online by Cambridge University Press:  28 April 2018

Patrick F. Chinnery
Affiliation:
University of Cambridge
Michael J. Keogh
Affiliation:
University of Newcastle upon Tyne
Get access

Summary

Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2018

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Vafai, S. B., Mootha, V. K.. Mitochondrial disorders as windows into an ancient organelle, Nature 2012; 491: 374383.CrossRefGoogle ScholarPubMed
Wallace, D. C.. A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Annual Review of Genetics 2005; 39: 359407.CrossRefGoogle ScholarPubMed
Genova, M. L., Lenaz, G.. Functional role of mitochondrial respiratory supercomplexes. Biochimica et Biophysica Acta 2014; 1837: 427443.CrossRefGoogle ScholarPubMed
Hirst, J.. Mitochondrial complex. Annual Review of Biochemistry 2013; 82: 551575.Google Scholar
Kim, H. J., Khalimonchuk, O., Smith, P. M., et al. Structure, function, and assembly of heme centers in mitochondrial respiratory complexes. Biochimica et Biophysica Acta 2012; 1823: 16041616.Google Scholar
Smith, P. M., Fox, J. L., Winge, D. R.. Biogenesis of the cytochrome bc(1) complex and role of assembly factors. Biochimica et Biophysica Acta 2012; 1817: 276286.Google Scholar
Mick, D. U., Fox, T. D., Rehling, P., Inventory control: cytochrome c oxidase assembly regulates mitochondrial translation. Nature Reviews. Molecular Cell Biology 2011; 12: 1420.CrossRefGoogle ScholarPubMed
Walker, J. E.. The ATP synthase: the understood, the uncertain and the unknown. Biochemical Society Transactions 2013; 41: 116.Google Scholar
Scarpulla, R. C.. Transcriptional paradigms in mammalian mitochondrial biogenesis and function. Physiological Reviews 2008; 88: 611638.CrossRefGoogle ScholarPubMed
Mishra, P., Chan, D. C.. Mitochondrial dynamics and inheritance during cell division, development and disease. Nature Reviews. Molecular Cell Biology 2014; 15: 634646.Google Scholar
Youle, R. J., Narendra, D. P.. Mechanisms of mitophagy. Nature Reviews. Molecular Cell Biology 2011; 12: 914.CrossRefGoogle ScholarPubMed
Gomes, L. C., Scorrano, L.. Mitochondrial morphology in mitophagy and macroautophagy. Biochimica et Biophysica Acta 2013; 1833: 205212.Google Scholar
Schon, E. A., DiMauro, S., Hirano, M.. Human mitochondrial DNA: roles of inherited and somatic mutations. Nature Reviews. Genetics 2012; 13: 878890.CrossRefGoogle ScholarPubMed
Calvo, S. E., Mootha, V. K.. The mitochondrial proteome and human disease. Annual Review of Genomics and Human Genetics 2010; 11: 2544.Google Scholar
Copeland, W. C.. Inherited mitochondrial diseases of DNA replication. Annual Review of Medicine 2008; 5: 131146.Google Scholar
Zeviani, M., Di Donato, S.. Mitochondrial disorders. Brain 2004; 127: 21532172.Google Scholar
Koopman, W. J., Distelmaier, F., Smeitink, J. A., et al. OXPHOS mutations and neurodegeneration. The EMBO Journal 2013; 32: 929.CrossRefGoogle ScholarPubMed
Koopman, W. J., Willems, P. H., Smeitink, J. A.. Monogenic mitochondrial disorders. New England Journal of Medicine 2012; 366: 11321141.CrossRefGoogle ScholarPubMed
Chinnery, P., Majamaa, K., Turnbull, D., et al. Treatment for mitochondrial disorders. The Cochrane Database of Systematic Reviews 2006; CD004426.Google ScholarPubMed
Calvo, S. E., Compton, A. G., Hershman, S. G., et al. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Science Translational Medicine 2012; 4: 118ra110.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×