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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Detaylı Bibliyografya
Yayımlandı:Hum Mutat
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2017
Konular:
Research Articles
Online Erişim: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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