Article
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.
Human mutation - 1 Mar 2018
Vazquez Fonseca Luis, Doimo Mara, Calderan Cristina, Desbats Maria Andrea, Acosta Manuel J, Cerqua Cristina, Cassina Matteo, Ashraf Shazia, Hildebrandt Friedhelm, Sartori Geppo, Navas Placido, Trevisson Eva, Salviati Leonardo
Abstract excerpt
Mutations in COQ8B cause steroid-resistant nephrotic syndrome with variable neurological involvement. In yeast, COQ8 encodes a protein required for coenzyme Q (CoQ) biosynthesis, whose precise role is not clear. Humans harbor two paralog genes: COQ8A and COQ8B (previously termed ADCK3 and ADCK4). We have found that COQ8B is a mitochondrial matrix protein peripherally associated with the inner membrane. COQ8B can...
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