David J. Pagliarini

The paper identifies dynamic mitochondrial phosphoisoforms through genetic perturbations and shows their functional impact on catalysis, import, and cristae architecture.

This study maps the interactomes of pathogenic SCO1 and SCO2 variants using BioID, revealing their roles in copper delivery and phospholipid metabolism disruption.

The paper investigates mitochondrial proteome homeostasis through multiomic analyses of gene perturbations, revealing post-transcriptional regulation and new protein functions.

This study identifies ACAD10 as encoding two enzymes involved in ether lipid biosynthesis and salvage, linking them to type 2 diabetes risk.

This study shows RTN4IP1 is critical for mitochondrial complex I assembly and coenzyme Q biosynthesis, with mutations causing defects in both processes in patient cells.

The paper identifies Fmp30 as a phosphatidylinositol hydrolase that negatively regulates CoQ biosynthesis in yeast by affecting lipid metabolism.

The paper identifies genes and metabolic regulators of nucleotide synthesis using uridine salvage and CRISPR-Cas9 screening, revealing NUDT5's role in maintaining nucleotide balance and its impact on chemotherapy resistance.

This study identifies DFCP1 as a regulator of ATGL-mediated lipid droplet lipolysis by directly modulating ATGL activity and stabilizing its association with lipid droplets.

The paper introduces a method using the Orbitrap Astral mass spectrometer with DIA to rapidly analyze phosphoproteomes, detecting over 80,000 phosphorylation sites in mice.

The paper identifies fedratinib as a drug that increases endoplasmic reticulum-mitochondria contact sites by inhibiting BRD4, revealing a novel epigenetic pathway linking ERMCS to cellular metabolism.

The paper investigates missense mutations in PREPL in CMS22 patients, showing they affect non-hydrolytic functions without impairing hydrolase activity.

The paper identifies C2orf69 deficiency as a cause of a fatal auto-inflammatory syndrome in humans and zebrafish, affecting mitochondrial function and immune/cNS development.