[HTML][HTML] Accumulation of DNA damage and reduced levels of nicotine adenine dinucleotide in the brains of Atm-deficient mice
N Stern, A Hochman, N Zemach, N Weizman… - Journal of Biological …, 2002 - ASBMB
Ataxia-telangiectasia (AT) is a human genetic disorder caused by mutational inactivation of
the ATM gene. AT patients display a pleiotropic phenotype, in which a major neurological
feature is progressive ataxia due to degeneration of cerebellar Purkinje and granule
neurons. Disruption of the mouseAtm locus creates a murine model of AT that exhibits most
of the clinical and cellular features of the human disease, but the neurological phenotype is
barely expressed. We present evidence for the accumulation of DNA strand breaks in the …
the ATM gene. AT patients display a pleiotropic phenotype, in which a major neurological
feature is progressive ataxia due to degeneration of cerebellar Purkinje and granule
neurons. Disruption of the mouseAtm locus creates a murine model of AT that exhibits most
of the clinical and cellular features of the human disease, but the neurological phenotype is
barely expressed. We present evidence for the accumulation of DNA strand breaks in the …