Cell Lines
AOA1
Publication
P3
Identification
- Causal gene(s)
- APTX
- Repeat size or mutation
- pW279X/*
- Cell type
- Fibroblast
Source & Publications
- Originating lab / institution
- Columbia University College of Physicians and Surgeons
- Links to publications or public resources
-
- Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation - PubMed
- Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway - PubMed
- Familial cerebellar ataxia with muscle coenzyme Q10 deficiency - PubMed
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