Cross‐talk between DNA damage response and the central carbon metabolic network underlies selective vulnerability of Purkinje neurons in ataxia‐telangiectasia
Abstract:Cerebellar ataxia is often the first and irreversible outcome in the disease of ataxia‐telangiectasia (A‐T), as a consequence of selective cerebellar Purkinje neuronal degeneration. A‐T is an autosomal recessive disorder resulting from the loss‐of‐function mutations of the ataxia‐telangiectasia–mutated ATM gene. Over years of research, it now becomes clear that functional ATM—a serine/threonine kinase protein product of the ATM gene—plays critical roles in regulating both cellular DNA damage response and centr… Show more
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