Valeria Tiranti

TL;DR: A novel mitochondrial protein, Twinkle, with structural similarity to phage T7 gene 4 primase/helicase and other hexameric ring helicases is reported, inferred to be critical for lifetime maintenance of human mtDNA integrity.

TL;DR: It is shown that a small interfering RNA (siRNA) against the Rieske iron-sulfur protein of mitochondrial complex III prevents the hypoxic stabilization of HIF-1 alpha protein.

TL;DR: The identified two heterozygous missense mutations in the nuclear gene encoding the heart/skeletal muscle isoform of the adenine nucleotide translocator (ANT1) in five families and one sporadic patient indicate that ANT has a role in mtDNA maintenance and that a mitochondrial disease can be caused by a dominant mechanism.

TL;DR: Sequence analysis of SURF-1 revealed mutations in numerous DNA samples from LD(COX-) patients, indicating that this gene is responsible for the major complementation group in this important mitochondrial disorder.

TL;DR: The power of transcriptome sequencing is demonstrated to molecularly diagnose 10% of mitochondriopathy patients and identify candidate genes for the remainder, and examples of intronic loss-of-function variants with pathological relevance are provided.