Ontology highlight
ABSTRACT:
SUBMITTER: van Waardenburg RC
PROVIDER: S-EPMC5064944 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
van Waardenburg Robert C A M RC
Journal of neurology & neuromedicine 20160101 5
Tyrosyl-DNA phosphodiesterase I (TDP1), like most DNA repair associated proteins, is not essential for cell viability. However, dysfunctioning TDP1 or ATM (ataxia telangiectasia mutated) results in autosomal recessive neuropathology with similar phenotypes, including cerebellar atrophy. Dual inactivation of TDP1 and ATM causes synthetic lethality. A TDP1H<sup>493</sup>R catalytic mutant is associated with spinocerebellar ataxia with axonal neuropathy (SCAN1), and stabilizes the TDP1 catalytic ob ...[more]