FD104 – National Ataxia Foundation

National Ataxia Foundation

Identification

Causal gene(s): APTX
Repeat size or mutation: pW279X/pW279X
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

Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin - PubMed

National Ataxia Foundation

Twenty Twenty-Five

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