Paz Briones

TL;DR: The results indicate that Mfn2 triggers mitochondrial energization, at least in part, by regulating OXPHOS expression through signals that are independent of its role as a mitochondrial fusion protein.

TL;DR: International Society for Pediatric and Adolescent Diabetes 24th Annual Meeting, Zurich, Switzerland, September 14–17, 1998 Horm Res 1998;50:107–140 Abstracts Dr. Michael S. Harbuz Division of Medicine, Bristol Bristol Royal Infirmary, Marlborough Street Bristol BS2 8HW.

TL;DR: It is concluded that yeast Nfu1 functions as a late-acting maturation factor for a subset of mitochondrial Fe-S proteins, suggesting that NFU1 performs a specific function in mitochondrialFe-S cluster maturation.

TL;DR: Assays of cultured fibroblasts revealed decreased activities of complex II+III, complex III, and complex IV, reduced expression of mitochondrial proteins involved in oxidative phosphorylation, decreased mitochondrial membrane potential, increased production of reactive oxygen species (ROS), activation of mitochondrial permeability transition (MPT), and reduced growth rates which were partially restored by CoQ supplementation.

TL;DR: Evidence that a patient in this study has a primary genetic defect affecting both N- and O- glycosylation provides the first example of an inborn error of metabolism affecting the biosynthesis of core 1 mucin type O-glycans.