News items related to the Department of Pediatrics.
New mitochondrial DNA maintenance disease uncovered1 October 2019
The group of Hans Spelbrink, theme Mitochondrial diseases, and colleagues, has identified and characterized mutations in the mtDNA maintenance gene SSBP1 in families with optic atrophy and foveopathy. This paper is now online in The Journal of Clinical Investigation.
Implementation of single national warning system will make pediatric wards even safer25 July 2019
This fall, all Dutch hospitals with a pediatric ward will have the possibility to implement a single signaling system that provides early warnings to caretakers as soon as the vital functions of admitted children are in danger.
Mitochondrial DNA replication factors in mtRNA metabolism5 February 2019
Hans Spelbrink, theme Mitochondrial diseases, published in Nucleic Acids Research, that two factors in mitochondrial DNA replication, namely the mtDNA helicase Twinkle and the mtDNA single-stranded DNA-binding protein mtSSB, play an important role in mitochondrial RNA metabolism.
Tweaking the gearbox of mitochondrial complex I1 November 2018
Alfredo Cabrera-Orefice, Ulrich Brandt and colleagues, theme Mitochondrial Diseases, concluded in Nature Communications that the movement of a critical loop of subunit ND3 located at the ubiquinone-binding pocket of respiratory complex I is required to drive proton pumping.
Biodegradable nanoreactors demonstrate ROS shielding in human-complex-I-deficient fibroblasts9 July 2018
Researchers of the Radboudumc and colleagues have successfully developed enzyme-loaded polymersomal nanoreactors capable of undergoing cellular integration in a controlled fashion and, subsequently, function as synthetic organelles.
Decision-making in extreme prematurity awarded by ZonMW16 May 2018
Rosa Geurtzen was awarded as appreciation for her role in a project that contributes to making effective choices in healthcare. She received the scholarship for the PreCo study, in which prenatal counseling in extreme preterm birth is optimized.