An updated inventory of about 150 human DNA repair genes is described. The compilation
includes genes encoding DNA repair enzymes, some genes associated with cellular …

Ataxia telangiectasia (AT) is one of a group of autosomal recessive cerebellar ataxias.
Presentation is usually by the age of 2 years and ataxia of both upper and lower limbs …

Tyrosyl‐DNA phosphodiesterase (Tdp1) catalyzes the hydrolysis of the tyrosyl‐3′
phosphate linkage found in topoisomerase I–DNA covalent complexes. The inherited …

Primary muscle coenzyme Q10 (CoQ10) deficiency is an apparently autosomal recessive
condition with heterogeneous clinical presentations. Patients with these disorders improve …

Base excision repair (BER) averts the cytotoxic and mutagenic effects of most endogenously
produced DNA damage, including lesions that arise spontaneously due to the intrinsic …

Pontin and Reptin previously were identified as nuclear β-catenin interaction partners that
antagonistically modulate β-catenin transcriptional activity. In this study, Hint1/PKCI, a …

Cyclin-dependent kinase 5 (cdk5) is a member of the cyclin-dependent kinase family whose
activity is localized mainly to postmitotic neurons attributable to the selective expression of …

Senataxin recently was identified as the mutated gene in ataxia‐oculomotor apraxia 2,
which is characterized by ataxia, oculomotor apraxia, and increased α‐fetoprotein levels. In …

Ataxia telangiectasia (AT) is a rare human disease characterized by extreme cellular
sensitivity to radiation and a predisposition to cancer, with a hallmark of onset in early …

The cells of an ataxia-oculomotor apraxia type 1 (AOA1) patient, homozygous for a new
aprataxin mutation (T739C), were treated with camptothecin, an inhibitor of DNA …