Nature, Published online: 09 July 2025; doi:10.1038/s41586-025-09246-x
Decreased brain coenzyme Q10 levels cause encephalopathy and are associated with neurodegeneration; supplementation with 4-HMA or 4-HB restores coenzyme Q10 synthesis in mice and humans with HPDL variants, improving survival and neurological symptoms in HPDL-driven mitochondrial encephalopathy.
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