Article
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
Brain : a journal of neurology - 3 Oct 2023
Rebelo Adriana P, Tomaselli Pedro J, Medina Jessica, Wang Ying, Dohrn Maike F, Nyvltova Eva, Danzi Matt C, Garrett Mark, Smith Sean E, Pestronk Alan, Li Chengcheng, Ruiz Ariel, Jacobs Elizabeth, Feely Shawna M E, França Marcondes C, Gomes Marcus V, Santos Diogo F, Kumar Surinder, Lombard David B, Saporta Mario, Hekimi Siegfried, Barrientos Antoni, Weihl Conrad, Shy Michael E, Marques Wilson, Zuchner Stephan
Abstract excerpt
COQ7 encodes a hydroxylase responsible for the penultimate step of coenzyme Q10 (CoQ10) biosynthesis in mitochondria. CoQ10 is essential for multiple cellular functions, including mitochondrial oxidative phosphorylation, lipid metabolism, and reactive oxygen species homeostasis. Mutations in COQ7 have been previously associated with primary CoQ10 deficiency, a clinically heterogeneous multisystemic mitochondrial...
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