Olga Goldberger

TL;DR: Genome phylogenetic profiling, genome-wide RNA co-expression analysis and organelle-wide protein coexpression analysis are used to predict proteins functionally related to MICU1, establishing MCU as an essential component of the mitochondrial Ca2+ uniporter.

TL;DR: Sancak et al. complete the molecular characterization of the mitochondrial calcium uniporter (MCU), the multicomponent channel that allows concentration of calcium within the organelle, and identify a small protein termed “essential MCU regulator”—or EMRE—which was required for calcium transport activity of the fully assembled uniporters.

TL;DR: This study illustrates how large-scale sequencing, coupled with functional prediction and experimental validation, can be used to identify causal mutations in individual cases.

TL;DR: By identifying candidate genes for eight mitochondrial disorders, this work expands the collection to 1,080 genes, which includes 368 novel predictions with a 10% estimated false prediction rate, and identifies mutations in MPV17 that result in hepatic mtDNA depletion syndrome.

TL;DR: Two lines of evidence are provided that mitochondrial respiratory chain dysfunction leads to alterations in one-carbon metabolism pathways and that lesioning the respiratory chain impairs mitochondrial production of formate from serine, and that in some cells, respiratory chain inhibition leads to growth defects upon serine withdrawal that are rescuable with purine or formate supplementation.