Document Detail

Mitochondrial deficiency in Cockayne syndrome.
MedLine Citation:
PMID:  23435289     Owner:  NLM     Status:  MEDLINE    
Cockayne syndrome is a rare inherited disorder characterized by accelerated aging, cachectic dwarfism and many other features. Recent work has implicated mitochondrial dysfunction in the pathogenesis of this disease. This is particularly interesting since mitochondrial deficiencies are believed to be important in the aging process. In this review, we discuss recent findings of mitochondrial pathology in Cockayne syndrome and suggest possible mechanisms for the mitochondrial dysfunction.
Morten Scheibye-Knudsen; Deborah L Croteau; Vilhelm A Bohr
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Intramural; Review     Date:  2013-02-19
Journal Detail:
Title:  Mechanisms of ageing and development     Volume:  134     ISSN:  1872-6216     ISO Abbreviation:  Mech. Ageing Dev.     Publication Date:    2013 May-Jun
Date Detail:
Created Date:  2013-05-22     Completed Date:  2013-12-31     Revised Date:  2014-05-07    
Medline Journal Info:
Nlm Unique ID:  0347227     Medline TA:  Mech Ageing Dev     Country:  Ireland    
Other Details:
Languages:  eng     Pagination:  275-83     Citation Subset:  IM    
Copyright Information:
Published by Elsevier Ireland Ltd.
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MeSH Terms
Cockayne Syndrome* / genetics,  metabolism,  pathology,  physiopathology
Mitochondria* / genetics,  metabolism,  pathology
Mitochondrial Diseases* / genetics,  metabolism,  pathology,  physiopathology
Grant Support
Z01 AG000733-12/AG/NIA NIH HHS

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