Cell Lines
AOA1
Publication
FD105
Identification
- Causal gene(s)
- APTX
- Repeat size or mutation
- pW279X/pW279X; sibling of FD106
- Cell type
- Fibroblast
Source & Publications
- Links to publications or public resources
-
- The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4 - PubMed
- Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage - PubMed
- Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin - PubMed
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