CellWell record HH-12765
Neurodevelopmental disease-causing variants in choline kinase CHKA gene couple phosphatidylcholine synthesis to oxidative stress damage and disease etiology.
Tavasoli M; Alkandari M; Dorighello G; McPhee M; Ridgway ND; Isaac K; Sokolenko S; Maroofian R; Shukla A; Zaki MS; Houlden H; McMaster CR
The Journal of biological chemistry ยท 2026
In plain language
Biallelic CHKA gene variants impair phosphatidylcholine synthesis and cause epilepsy, microcephaly, and intellectual disability, with patient fibroblasts showing mitochondrial dysfunction and elevated oxidative lipid damage reversible by a mitochondrial uncoupler.
- Studied in
- Human
Cite this record: https://thecellwell.org/studies/HH-12765
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