Nicole Lesko

TL;DR: The results thus show that TFB1M is a nonredundant dimethyltransferase in mammalian mitochondria and provide a possible explanation for the universal conservation of adenine dimethylation of rRNA by showing a critical role in ribosome maintenance.

TL;DR: Rec recessive loss-of-function SLC12A5 mutations in patients with a severe infantile-onset pharmacoresistant epilepsy syndrome, epilepsy of infancy with migrating focal seizures (EIMFS), contribute to loss of KCC2 activity, thereby impairing normal synaptic inhibition and promoting neuronal excitability in this early-ONSet epileptic encephalopathy.

TL;DR: ADK deficiency is a previously undescribed, severe IEM shedding light on a functional link between the methionine cycle and adenosine metabolism, and two siblings affected by severe developmental delay and liver dysfunction were studied.

TL;DR: It is demonstrated that the coenzyme Q analogue 2,4-dihydroxybensoic acid (2,4DHB) was able to specifically bypass the COQ7 deficiency, increase cellular coen enzyme Q levels and rescue the biochemical defect in patient fibroblasts.

TL;DR: In this article, the authors report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) since mid-2015.