Cell Lines
AOA1
Publication
P1657
Identification
- Causal gene(s)
- APTX
- Repeat size or mutation
- pR306X/pR306X
- Cell type
- Fibroblast
Donor Information
- Donor gender
- male
- Age at disease onset (years)
- 7
- Age at collection (years)
- 28
Source & Publications
- Originating lab / institution
- Istituto Neurologico Carlo Besta
- Links to publications or public resources
-
- Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients - PubMed
- Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway - PubMed
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