Article
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
Human mutation - 1 Jan 2018
Malicdan May Christine V, Vilboux Thierry, Ben-Zeev Bruria, Guo Jennifer, Eliyahu Aviva, Pode-Shakked Ben, Dori Amir, Kakani Sravan, Chandrasekharappa Settara C, Ferreira Carlos R, Shelestovich Natalia, Marek-Yagel Dina, Pri-Chen Hadass, Blatt Ilan, Niederhuber John E, He Langping, Toro Camilo, Taylor Robert W, Deeken John, Yardeni Tal, Wallace Douglas C, Gahl William A, Anikster Yair
Abstract excerpt
Primary coenzyme Q10 (CoQ10 ; MIM# 607426) deficiencies are an emerging group of inherited mitochondrial disorders with heterogonous clinical phenotypes. Over a dozen genes are involved in the biosynthesis of CoQ10 , and mutations in several of these are associated with human disease. However, mutations in COQ5 (MIM# 616359), catalyzing the only C-methylation in the CoQ10 synthetic pathway, have not been...
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