Linsey Stiles

This paper identifies that truncating variants in KAT6A cause two distinct neurodevelopmental disorders with opposing gene regulatory and metabolic effects, highlighting the need for variant-level stratification in therapy development.

This paper shows that truncating ASXL1 variants disrupt mitochondrial pyruvate transport, leading to metabolic changes and Wnt signaling dysregulation in Bohring-Opitz syndrome and myeloid leukemia.

This study shows that UCP1-deficient mice adapt to cold by increasing mitochondrial calcium uptake via MCU, enhancing thermogenesis without UCP1.

This study shows the malate aspartate shuttle supports lipid mobilization in brown adipocytes by regulating lipid homeostasis and thermogenesis.

This study shows that the gut microbiome increases mitochondrial respiration and oxidative stress in the brain of a Parkinson's disease mouse model, worsening motor symptoms.

This study shows TRAF6 regulates glucose homeostasis via mitophagy in islets, with both Parkin-dependent and -independent pathways involved.

This study shows IGF2BP3 regulates RNA methylation by altering cellular metabolism to increase SAM production, enhancing m6A modifications and gene expression in leukemia.

The paper identifies LPCAT3 as a cold-regulated enzyme that generates AA-PE in BAT mitochondria, enhancing ETC efficiency and thermogenesis.

The paper creates a brain-wide map of mitochondrial phenotypes by combining physical voxelization with biochemical profiling, revealing regional differences in mitochondrial density and function.

The paper identifies the pentose phosphate pathway's role in regulating radial glia cell fate during human cortical development using metabolic assays and genetic manipulations.

This study shows that reduced oxidative phosphorylation is not required for pro-inflammatory macrophage activation, challenging the conventional model of mitochondrial reprogramming.

This study shows CNTF treatment in degenerating mouse retinas enhances glycolysis and anabolism, improving neuronal viability through metabolic changes.

The paper compares gene expression and stress responses in human and mouse astrocytes, finding conserved and divergent features that may explain differences in disease models.