Research Background and Problem Statement Primary Familial Brain Calcification (PFBC) is a rare neurological disorder characterized by microvascular calcification in the basal ganglia and other brain regions. Although at least six genes associated with PFBC have been identified (including SLC20A2, XPR1, PDGFB, PDGFRB, MYORG, and JAM2), the pathogen...

Systematic Analysis of NDUFAF6 in Complex I Assembly and Mitochondrial Disease Background Mitochondrial complex I (CI) is a crucial component of the respiratory chain, playing an essential role in oxidative phosphorylation (OXPHOS) by introducing electrons into the mitochondrial respiratory chain and, together with complexes II-IV, generating and m...