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An overview of current mouse models recapitulating coenzyme q10 deficiency syndrome.
MedLine Citation:
PMID:  25126051     Owner:  NLM     Status:  PubMed-not-MEDLINE    
Abstract/OtherAbstract:
Coenzyme Q (CoQ), also known as ubiquinone, is an essential lipophilic molecule present in all cellular membranes and involved in a variety of cellular functions, in particular as an electron carrier in the mitochondrial respiratory chain and as a potent antioxidant. CoQ is synthesized endogenously through a complex metabolic pathway involving over 10 different components. Primary CoQ10 deficiency in humans, due to mutations in genes involved in CoQ biosynthesis, is a heterogeneous group of rare disorders presenting severe and complex clinical symptoms. The generation of mouse models deficient in CoQ is important to further clarify the cellular function of CoQ and to unravel the complexity in the pathophysiological consequences of CoQ deficiency. This review summarizes the current knowledge on mouse models of primary CoQ deficiency.
Authors:
Floriana Licitra; Hélène Puccio
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Molecular syndromology     Volume:  5     ISSN:  1661-8769     ISO Abbreviation:  Mol Syndromol     Publication Date:  2014 Jul 
Date Detail:
Created Date:  2014-08-15     Completed Date:  2014-08-15     Revised Date:  2014-08-18    
Medline Journal Info:
Nlm Unique ID:  101525192     Medline TA:  Mol Syndromol     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  180-6     Citation Subset:  -    
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