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Mitochondrial deficiency in Cockayne syndrome.
Mechanisms of Ageing and Development ( IF 5.3 ) Pub Date : 2013-02-26 , DOI: 10.1016/j.mad.2013.02.007
Morten Scheibye-Knudsen 1 , Deborah L Croteau , Vilhelm A Bohr
Affiliation  

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.

中文翻译:

Cockayne 综合征中的线粒体缺乏症。

Cockayne 综合征是一种罕见的遗传性疾病,其特征是衰老加速、恶病质侏儒症和许多其他特征。最近的研究表明,线粒体功能障碍与这种疾病的发病机制有关。这是特别有趣的,因为线粒体缺陷被认为在衰老过程中很重要。在这篇综述中,我们讨论了 Cockayne 综合征线粒体病理学的最新发现,并提出了线粒体功能障碍的可能机制。
更新日期:2013-02-19
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