Mutations in COQ8B (ADCK4) found in patients with steroid‐resistant nephrotic syndrome alter COQ8B function

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...

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Bibliografiske detaljer
Udgivet i:Hum Mutat
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2017
Fag:
Research Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5838795/
https://ncbi.nlm.nih.gov/pubmed/29194833
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23376
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