The role of novel COQ8B mutations in glomerulopathy and related kidney defects.

Asmaa S AbuMaziadTarjani M ThakerThomas M TomasiakChyi Chyi ChongMaureen K GalindoH Eugene Hoyme

Published in: American journal of medical genetics. Part A (2020)

Novel mutations in COQ8B present promising biomarkers for the early detection and therapeutic targeting of mitochondrial glomerulopathy. Insights from structural modeling suggest roles of mutation-dependent alterations in COQ8B allosteric regulation, protein folding, or stability in renal pathogenesis.

Keyphrases

small molecule
oxidative stress
single molecule
protein protein
cancer therapy
molecular dynamics simulations
drug induced