Jukka Kallijärvi

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: It is suggested that TRIM37 acts as a TRIM domain-dependent E3 ubiquitin ligase and imply defective ubiquit in-dependent degradation of an as-yet-unidentified target protein in the pathogenesis of mulibrey nanism.

TL;DR: Molecular evidence unequivocally indicates that TRIM37 is located in the peroxisomes, and mulibrey nanism thus can be classified as a newPeroxisomal disorder.

TL;DR: Several currently known dFoxO regulators were found in the screening, confirming the validity of the approach and several interesting new regulators were identified, including protein kinase C and glycogen synthase kinase 3β, two proteins with important roles in insulin signaling.

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.