Janne Purhonen

TL;DR: A simple non-radioactive microplate assay for the quantification of dNTPs with a minimum requirement of 4–12 mg of biopsy material based on long synthetic single-stranded DNA templates, an inhibitor-resistant high-fidelity DNA polymerase, and the double-strander-DNA-binding EvaGreen dye that quantified reliably and discriminated well against ribonucleotides.

TL;DR: The value of AOX is demonstrated, both as a mechanistic tool and a potential therapeutic strategy, for cIII deficiencies, showing that the restored electron flow upstream of cIII was sufficient to prevent cardiac energetic crisis and detrimental decompensation.

TL;DR: A striking beneficial hepatic response to KD is revealed in mice with mitochondrial hepatopathy and warrant further investigations of dietary modification in the management of these conditions in patients.

TL;DR: The role of the CoQ-linked metabolism in the pathogenesis of human diseases of oxidative phosphorylation (OXPHOS) is discussed in this paper, in which the coq homeostasis is directly or indirectly affected.

TL;DR: Novel manifestations in brain, skeletal muscle and liver, including abnormality in specialized resident macrophages (microglia and Kupffer cells) are shown, which forward the understanding of CIII deficiencies caused by BCS1L mutations.