EC Number   |
Application |
Reference |
|---|
   3.6.1.71 | medicine |
ataxia-oculomotor apraxia, AOA1, is a neurological disorder with symptoms that overlap those of ataxiatelangiectasia, characterized by abnormal responses to double-strand DNA breaks and genome instability. The gene mutated in AOA1, APTX, codes for aprataxin which contains domains of homology with proteins involved in DNA damage signalling and repair. Cells from AOA1 show enhanced sensitivity to agents that cause single-strand breaks in DNA but there is no evidence for a gross defect in single-strand break repair |
740518 |
| 3.6.1.71 | medicine |
cells from patients with ataxia oculomotor apraxia AOA1 show reduced expression of poly-ADP ribose polymerase PARP-1, apurinic endonuclease APE1 and N-glycosylase/DNA lyase OGG1. AOA1 cells exhibit elevated levels of oxidative DNA damage coupled with reduced base excision and gap filling repair efficiencies |
703960 |
| 3.6.1.71 | medicine |
cells of an ataxia-oculomotor apraxia type 1 patient, homozygous for aprataxin mutation T739C, treated with camptothecin, inhibitor of DNA topoisomerase I which induces DNA single-strand breaks, show marked and dose-related increases in induced chromosomal aberrations compared to the intrafamilial wild-type control |
740277 |
| 3.6.1.71 | medicine |
in bone marrow of patients from a phase 2 study of the farnesyltransferase inhibitor tipifarnib in older adults with previously untreated acute myeloid leukemia, the RASGRP1/APTX gene expression ratio predicts response to tipifarnib with the greatest accuracy. RASGRP1 is a guanine nucleotide exchange factor that activates RAS, while APTX (aprataxin) is involved in DNA excision repair |
753064 |
| 3.6.1.71 | medicine |
in cells from patients with ataxia with oculomotor apraxia type 1, AOA1, lacking aprataxin, the stability of nucleolin is significantly reduced |
740519 |
| 3.6.1.71 | medicine |
mutations in aprataxin cause ataxia-ocular apraxia 1, leading to early onset ataxia, oculomotor apraxia and cerebellar atrophy as well as axonal motor neuropathy and the later decrease of serum albumin levels and elevation of total cholesterol |
741055 |
