Vamsi Krishna Mootha

This paper shows that a second-generation hypoxia-in-a-pill treatment rescues neurodegenerative phenotypes in multiple mouse models.

This paper identifies a genetic bottleneck in the G3P shuttle that limits human developmental rate by constraining metabolic flux and the segmentation clock.

The paper identifies MMADHC as a mitochondrial protein that stabilizes in the cytosol upon PMF collapse, increasing MTR activity and one-carbon metabolism.

This study shows hydrogen sulfide increases copper uptake and localization in cells, with copper primarily in the Cu2+ state, using the ZNT1 transporter for import and ATP7A for export.

This paper identifies 4,5-dihydroxyhexanoic acid as a biomarker for mitochondrial disease severity and links it to GABA metabolism.

The paper shows that the proton motive force (PMF) balances mtDNA replication and cell proliferation to maintain stable mtDNA copy numbers during cell divisions.

The paper investigates the mechanism of age-related mtDNA mutation accumulation in human blood using whole genome sequences, revealing a two-step process involving cryptic mutations and clonal expansion.

The paper identifies N6AMT1's role in cytosolic translation of mitochondrial RNAse P subunits, showing its necessity for mitochondrial RNA processing and function.

Blood whole genomes from 274,832 people yield 92 independent nuclear signals for mtDNA copy number and 42 for inherited heteroplasmy levels, implicating mtDNA replication machinery.

The paper presents a pipeline to call mitochondrial DNA variants in gnomAD, reporting population frequencies for 10,850 unique mtDNA variants across 56,434 individuals.

The paper investigates the genetic contribution of organelles to age-related traits and finds that nuclear transcription factors have a greater influence on disease risk than other organelles.

The paper identifies a metabolic shift involving amino acid availability and mitochondrial biogenesis as the mechanism underlying recovery in reversible infantile respiratory chain deficiency.

This study shows that mitochondrial Ca2+ clearance regulates insulin secretion by modulating plasma membrane Ca2+ entry in beta-cells.