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Contribution of defective mitophagy to the neurodegeneration in DNA repair-deficient disorders

12 Jun 2014

Abstract excerpt

DNA repair is a prerequisite for life as we know it, and defects in DNA repair lead to accelerated aging. Xeroderma pigmentosum group A (XPA) is a classic DNA repair-deficient disorder with patients displaying sun sensitivity and cancer susceptibility. XPA patients also exhibit neurodegeneration, leading to cerebellar atrophy, neuropathy, and hearing loss, through a mechanism that has remained elusive. Using in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24991831
DOI: 10.4161/auto.29321

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